Variant report

Variant	nsv890369
Chromosome Location	chr8:11671041-11840011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5985)
CpG islands
(count:4210)
Chromatin interactive
region (count:158)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5985 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11746984-11747236	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:11767366-11767469	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11801213-11801488	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:11720016-11720613	K562	blood:	n/a	n/a
5	ARID3A	chr8:11754879-11755097	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:11736830-11737436	K562	blood:	n/a	n/a
7	ARID3A	chr8:11743681-11743940	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:11722303-11722739	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:11711460-11711976	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:11799803-11800003	K562	blood:	n/a	n/a
11	ARID3A	chr8:11813783-11814113	HepG2	liver:	n/a	n/a
12	ARID3A	chr8:11741338-11742065	K562	blood:	n/a	n/a
13	ARID3A	chr8:11671599-11671984	HepG2	liver:	n/a	n/a
14	ARID3A	chr8:11758928-11760170	HepG2	liver:	n/a	n/a
15	ARID3A	chr8:11719967-11720499	HepG2	liver:	n/a	n/a
16	ARID3A	chr8:11769447-11769628	K562	blood:	n/a	n/a
17	ARID3A	chr8:11710564-11710991	HepG2	liver:	n/a	n/a
18	ATF1	chr8:11736841-11737531	K562	blood:	n/a	n/a
19	ATF1	chr8:11807083-11807365	K562	blood:	n/a	n/a
20	ATF1	chr8:11677780-11678103	K562	blood:	n/a	n/a
21	ATF1	chr8:11799573-11800081	K562	blood:	n/a	n/a
22	ATF1	chr8:11793688-11793744	K562	blood:	n/a	n/a
23	ATF1	chr8:11719934-11720561	K562	blood:	n/a	n/a
24	ATF2	chr8:11759720-11760180	GM12878	blood:	n/a	n/a
25	ATF2	chr8:11739306-11739735	GM12878	blood:	n/a	n/a
26	ATF2	chr8:11754354-11755726	GM12878	blood:	n/a	n/a
27	ATF2	chr8:11739202-11739721	GM12878	blood:	n/a	n/a
28	ATF2	chr8:11735207-11736519	GM12878	blood:	n/a	n/a
29	ATF2	chr8:11718234-11718663	GM12878	blood:	n/a	n/a
30	ATF2	chr8:11704572-11705318	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr8:11724806-11725122	GM12878	blood:	n/a	n/a
32	ATF2	chr8:11718117-11718791	GM12878	blood:	n/a	n/a
33	ATF2	chr8:11716064-11716683	GM12878	blood:	n/a	n/a
34	ATF2	chr8:11724597-11725205	GM12878	blood:	n/a	n/a
35	ATF2	chr8:11754279-11755628	GM12878	blood:	n/a	n/a
36	ATF3	chr8:11711440-11711869	K562	blood:	n/a	chr8:11711746-11711755
37	ATF3	chr8:11711524-11711774	K562	blood:	n/a	chr8:11711746-11711755
38	ATF3	chr8:11720050-11720523	K562	blood:	n/a	n/a
39	ATF3	chr8:11686227-11686415	K562	blood:	n/a	n/a
40	ATF3	chr8:11711190-11711884	A549	lung:	n/a	chr8:11711746-11711755
41	ATF3	chr8:11801205-11801445	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF3	chr8:11801205-11801436	K562	blood:	n/a	n/a
43	ATF3	chr8:11725467-11725700	K562	blood:	n/a	n/a
44	ATF3	chr8:11759787-11760027	K562	blood:	n/a	n/a
45	ATF3	chr8:11725482-11725723	HepG2	liver:	n/a	n/a
46	BACH1	chr8:11720086-11720270	K562	blood:	n/a	n/a
47	BACH1	chr8:11759765-11760312	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr8:11729699-11729701	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr8:11791553-11791787	K562	blood:	n/a	n/a
50	BACH1	chr8:11671211-11671244	K562	blood:	n/a	n/a

(count:4210 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11790639-11790689	HPAEpiC	pulmonary alveolar:	n/a
2	chr8:11790639-11790689	HPAEpiC	pulmonary alveolar:	n/a
3	chr8:11724777-11724827	U87	brain:	n/a
4	chr8:11835607-11835657	NHDF-neo	bronchial:	n/a
5	chr8:11726286-11726336	CMK	blood:	n/a
6	chr8:11839764-11839814	K562	blood:	n/a
7	chr8:11759665-11759715	AoSMC	blood vessel:	n/a
8	chr8:11833039-11833089	GM12878	blood:	n/a
9	chr8:11839138-11839188	BE2_C	brain:	n/a
10	chr8:11763828-11763878	HCT-116	colon:	n/a
11	chr8:11725492-11725542	HIPEpiC	eye:	n/a
12	chr8:11839138-11839188	NB4	blood:	n/a
13	chr8:11835607-11835657	HMEC	breast:	n/a
14	chr8:11832565-11832615	MCF-7	breast:	n/a
15	chr8:11756069-11756119	SK-N-SH_RA	brain:	n/a
16	chr8:11839780-11839830	CMK	blood:	n/a
17	chr8:11794716-11794766	H1-hESC	embryonic stem cell:	embryo
18	chr8:11772568-11772618	AG09309	skin:	n/a
19	chr8:11696232-11696282	HCT-116	colon:	n/a
20	chr8:11772119-11772169	NT2-D1	testis:	n/a
21	chr8:11725599-11725649	SK-N-MC	brain:	n/a
22	chr8:11717853-11717903	MCF10A-Er-Src	breast:	n/a
23	chr8:11725596-11725646	K562	blood:	n/a
24	chr8:11760136-11760186	AG04450	lung:	fetal
25	chr8:11790559-11790609	AG10803	skin:	n/a
26	chr8:11726043-11726093	BJ	skin:	n/a
27	chr8:11772215-11772265	RPTEC	kidney:	n/a
28	chr8:11831823-11831873	HCPEpiC	choroid plexus:	n/a
29	chr8:11760342-11760392	NH-A	brain:	n/a
30	chr8:11833039-11833089	HCT-116	colon:	n/a
31	chr8:11774336-11774386	GM12892	blood:	n/a
32	chr8:11839780-11839830	AG09309	skin:	n/a
33	chr8:11790559-11790609	SAEC	small airway:	n/a
34	chr8:11701719-11701769	HCM	heart:	n/a
35	chr8:11710911-11710961	HRPEpiC	eye:	n/a
36	chr8:11756069-11756119	CMK	blood:	n/a
37	chr8:11774497-11774547	NHDF-neo	bronchial:	n/a
38	chr8:11726286-11726336	MCF-7	breast:	n/a
39	chr8:11831823-11831873	HMEC	breast:	n/a
40	chr8:11696232-11696282	GM06990	blood:	n/a
41	chr8:11725104-11725154	AG04450	lung:	fetal
42	chr8:11773969-11774019	NT2-D1	testis:	n/a
43	chr8:11763828-11763878	GM19239	blood:	n/a
44	chr8:11774497-11774547	PFSK-1	brain:	n/a
45	chr8:11794716-11794766	SK-N-MC	brain:	n/a
46	chr8:11771244-11771294	GM06990	blood:	n/a
47	chr8:11813211-11813261	MCF10A-Er-Src	breast:	n/a
48	chr8:11772343-11772393	GM19239	blood:	n/a
49	chr8:11794716-11794766	PFSK-1	brain:	n/a
50	chr8:11715284-11715334	HCF	heart:	n/a

(count:158 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr8:11695667..11699183-chr8:11720606..11722768,3	K562	blood:
2	chr8:11801089..11802817-chr8:11804319..11806900,3	K562	blood:
3	chr8:11798435..11800299-chr8:11803537..11805187,2	K562	blood:
4	chr8:11827300..11830194-chr8:11832454..11834607,2	K562	blood:
5	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
6	chr8:11706290..11708186-chr8:11724044..11726922,3	MCF-7	breast:
7	chr8:11746436..11748896-chr8:11754900..11757322,2	K562	blood:
8	chr8:11658317..11661287-chr8:11697246..11700186,2	K562	blood:
9	chr8:11835676..11838476-chr8:11840654..11843385,2	K562	blood:
10	chr8:11699877..11702780-chr8:11758303..11760780,3	K562	blood:
11	chr8:11702698..11703665-chr8:11759456..11760160,2	MCF-7	breast:
12	chr8:11727352..11730707-chr8:11734493..11737265,3	K562	blood:
13	chr8:11701711..11703998-chr8:11723479..11725596,2	K562	blood:
14	chr8:11689387..11691686-chr8:11696731..11698715,2	K562	blood:
15	chr8:11734290..11736871-chr8:11743194..11744743,2	K562	blood:
16	chr8:11686947..11689897-chr8:11691622..11693319,2	K562	blood:
17	chr8:11693196..11696107-chr8:11696780..11702016,6	K562	blood:
18	chr8:11718826..11720544-chr8:11749993..11751511,2	MCF-7	breast:
19	chr8:11658864..11661745-chr8:11724576..11726431,3	MCF-7	breast:
20	chr8:11724650..11727565-chr8:11758155..11761309,4	MCF-7	breast:
21	chr8:11662802..11665653-chr8:11685244..11688002,2	K562	blood:
22	chr8:11619764..11620442-chr8:11816053..11817012,3	K562	blood:
23	chr8:11723128..11726794-chr8:11729764..11731890,4	MCF-7	breast:
24	chr8:11689387..11691686-chr8:11696731..11698715,2	K562	blood:
25	chr8:11682570..11685131-chr8:11702411..11705156,2	K562	blood:
26	chr8:11723911..11726339-chr8:11798413..11801274,2	K562	blood:
27	chr8:11701610..11705224-chr8:11724505..11726759,3	MCF-7	breast:
28	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
29	chr8:11816060..11816951-chr8:11827752..11828579,2	MCF-7	breast:
30	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
31	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
32	chr8:11725495..11727126-chr8:11727465..11729533,2	MCF-7	breast:
33	chr8:11729883..11732100-chr8:11739868..11741394,2	K562	blood:
34	chr8:11798435..11800299-chr8:11803537..11805187,2	K562	blood:
35	chr8:11816131..11817071-chr8:11827985..11828641,3	K562	blood:
36	chr8:11816131..11817071-chr8:11827985..11828641,3	K562	blood:
37	chr8:11683203..11685176-chr8:11688978..11690552,2	K562	blood:
38	chr8:11658805..11661004-chr8:11802756..11805427,2	K562	blood:
39	chr8:11744571..11746987-chr8:11757045..11759456,2	MCF-7	breast:
40	chr8:11622652..11623752-chr8:11800899..11801806,5	MCF-7	breast:
41	chr8:11717778..11719934-chr8:11735920..11738113,2	MCF-7	breast:
42	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
43	chr10:124484205..124484883-chr8:11688873..11689373,2	MCF-7	breast:
44	chr8:11715679..11717977-chr8:11719165..11721934,2	MCF-7	breast:
45	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
46	chr8:11768991..11769997-chr8:11800815..11801744,4	MCF-7	breast:
47	chr8:11663591..11666285-chr8:11668539..11672798,5	K562	blood:
48	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
49	chr8:11659426..11661474-chr8:11724613..11726870,3	MCF-7	breast:
50	chr16:87902576..87903306-chr8:11724748..11725674,2	Hela-S3	cervix:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTSB-1	chr8:11753359-11753626	NONHSAT125100
2	lnc-RP11-297N6.4.1-2	chr8:11703663-11703900	ENSG00000269899.1
3	lnc-CTSB-1	chr8:11754271-11754379	NONHSAT125100
4	lnc-FDFT1-1	chr8:11701603-11702070	expReg_chr8_457_+
5	lnc-CTSB-2	chr8:11777409-11778318	NONHSAT125102

No data

Variant related genes	Relation type
DEFB136	TF binding region
CTSB	TF binding region
OR7E161P	TF binding region
ENSG00000269899	TF binding region
FDFT1	TF binding region
DEFB135	TF binding region
OR7E158P	TF binding region
ENSG00000255144	TF binding region
DEFB136	CpG island
CTSB	CpG island
OR7E161P	CpG island
ENSG00000269899	CpG island
FDFT1	CpG island
DEFB135	CpG island
OR7E158P	CpG island
ENSG00000255144	CpG island
ENSG00000154328	chromatin interactions
ENSG00000079459	chromatin interactions
ENSG00000205884	chromatin interactions
ENSG00000255046	chromatin interactions
ENSG00000164733	chromatin interactions
ENSG00000255144	chromatin interactions
ENSG00000070961	chromatin interactions
ENSG00000269899	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000103257	chromatin interactions

Extended variants
information (count: 11150 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:11150 , 50 per page) page: 1 2 3 4 5 6 7 ... 223

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1736058	chr8:11671041-11671042	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543514443	chr8:11671056-11671057	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141609000	chr8:11671063-11671064	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs527271482	chr8:11671069-11671070	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs561646063	chr8:11671072-11671073	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529082412	chr8:11671090-11671091	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs117873906	chr8:11671108-11671109	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569355082	chr8:11671109-11671110	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs147060296	chr8:11671117-11671118	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560553832	chr8:11671121-11671122	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112955879	chr8:11671127-11671128	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141935490	chr8:11671141-11671142	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73547716	chr8:11671146-11671147	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556122559	chr8:11671161-11671162	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs150280197	chr8:11671163-11671164	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs180785896	chr8:11671165-11671166	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs35787288	chr8:11671168-11671169	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138926537	chr8:11671171-11671172	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575302913	chr8:11671179-11671180	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs186386465	chr8:11671186-11671187	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192279536	chr8:11671187-11671188	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs572551842	chr8:11671194-11671195	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183603534	chr8:11671220-11671221	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs149463799	chr8:11671221-11671222	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529122239	chr8:11671237-11671238	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550753734	chr8:11671243-11671244	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145924111	chr8:11671275-11671276	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188694351	chr8:11671312-11671313	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549679578	chr8:11671314-11671315	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533613109	chr8:11671322-11671323	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566932954	chr8:11671335-11671336	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569804344	chr8:11671347-11671348	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs3779663	chr8:11671362-11671363	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs551834220	chr8:11671364-11671365	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567983610	chr8:11671370-11671371	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538495469	chr8:11671394-11671395	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571688864	chr8:11671395-11671396	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs139807382	chr8:11671401-11671402	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545682825	chr8:11671410-11671411	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141758890	chr8:11671416-11671417	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539219161	chr8:11671419-11671420	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557596562	chr8:11671429-11671430	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377589258	chr8:11671439-11671440	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572588787	chr8:11671459-11671460	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539858420	chr8:11671463-11671464	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs565562315	chr8:11671465-11671466	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs56189101	chr8:11671466-11671467	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567681629	chr8:11671485-11671486	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs199688400	chr8:11671488-11671489	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191391850	chr8:11671534-11671535	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:148)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Honadal dysgenesis	21408189	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4736 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11666400-11671400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:11666600-11671200	Weak transcription	Small Intestine	intestine
3	chr8:11666800-11673000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:11666800-11673600	Strong transcription	Fetal Thymus	thymus
5	chr8:11667000-11671200	Strong transcription	Hela-S3	cervix
6	chr8:11667000-11671600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:11667000-11672000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:11667000-11672000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:11667000-11672000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:11667000-11672000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:11667000-11672000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:11667000-11672200	Strong transcription	A549	lung
13	chr8:11667000-11672200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:11667000-11672400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:11667000-11673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:11667200-11671200	Strong transcription	Placenta	Placenta
18	chr8:11667200-11671400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr8:11667200-11671600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:11667200-11671600	Strong transcription	Thymus	Thymus
21	chr8:11667200-11671600	Strong transcription	HSMM	muscle
22	chr8:11667200-11671800	Strong transcription	Primary B cells from cord blood	blood
23	chr8:11667200-11672200	Strong transcription	Primary hematopoietic stem cells	blood
24	chr8:11667200-11673000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:11667200-11673400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:11667200-11683800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:11667400-11671200	Strong transcription	Spleen	Spleen
28	chr8:11667400-11671600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:11667400-11671600	Strong transcription	HSMMtube	muscle
30	chr8:11667400-11671800	Strong transcription	Brain Germinal Matrix	brain
31	chr8:11667400-11672000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr8:11667400-11672000	Strong transcription	HUVEC	blood vessel
33	chr8:11667400-11672000	Strong transcription	Osteobl	bone
34	chr8:11667400-11672400	Strong transcription	NHDF-Ad	bronchial
35	chr8:11667400-11672400	Strong transcription	NHLF	lung
36	chr8:11667400-11672800	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:11667400-11679200	Weak transcription	Fetal Brain Male	brain
38	chr8:11667600-11671200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr8:11667600-11671600	Strong transcription	Fetal Brain Female	brain
40	chr8:11667600-11672000	Strong transcription	Primary T cells from cord blood	blood
41	chr8:11667600-11672200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:11668000-11671400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr8:11668000-11671800	Genic enhancers	Adipose Nuclei	Adipose
44	chr8:11668000-11671800	Enhancers	Colon Smooth Muscle	Colon
45	chr8:11668000-11672600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:11668000-11673400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:11668200-11671200	Strong transcription	HMEC	breast
48	chr8:11668200-11677800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:11668400-11672000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:11668800-11672000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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