Variant report

Variant	nsv539478
Chromosome Location	chr8:11679271-11858466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5977)
CpG islands
(count:4638)
Chromatin interactive
region (count:161)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5977 , 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	chr8:11736830-11737436	K562	blood:	n/a	n/a
2	ARID3A	chr8:11813783-11814113	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11758928-11760170	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:11743681-11743940	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:11720016-11720613	K562	blood:	n/a	n/a
6	ARID3A	chr8:11741338-11742065	K562	blood:	n/a	n/a
7	ARID3A	chr8:11801213-11801488	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:11746984-11747236	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:11711460-11711976	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:11767366-11767469	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:11722303-11722739	HepG2	liver:	n/a	n/a
12	ARID3A	chr8:11710564-11710991	HepG2	liver:	n/a	n/a
13	ARID3A	chr8:11769447-11769628	K562	blood:	n/a	n/a
14	ARID3A	chr8:11719967-11720499	HepG2	liver:	n/a	n/a
15	ARID3A	chr8:11754879-11755097	HepG2	liver:	n/a	n/a
16	ARID3A	chr8:11799803-11800003	K562	blood:	n/a	n/a
17	ATF1	chr8:11799573-11800081	K562	blood:	n/a	n/a
18	ATF1	chr8:11807083-11807365	K562	blood:	n/a	n/a
19	ATF1	chr8:11793688-11793744	K562	blood:	n/a	n/a
20	ATF1	chr8:11736841-11737531	K562	blood:	n/a	n/a
21	ATF1	chr8:11719934-11720561	K562	blood:	n/a	n/a
22	ATF2	chr8:11739306-11739735	GM12878	blood:	n/a	n/a
23	ATF2	chr8:11754354-11755726	GM12878	blood:	n/a	n/a
24	ATF2	chr8:11716064-11716683	GM12878	blood:	n/a	n/a
25	ATF2	chr8:11724597-11725205	GM12878	blood:	n/a	n/a
26	ATF2	chr8:11718117-11718791	GM12878	blood:	n/a	n/a
27	ATF2	chr8:11754279-11755628	GM12878	blood:	n/a	n/a
28	ATF2	chr8:11724806-11725122	GM12878	blood:	n/a	n/a
29	ATF2	chr8:11759720-11760180	GM12878	blood:	n/a	n/a
30	ATF2	chr8:11739202-11739721	GM12878	blood:	n/a	n/a
31	ATF2	chr8:11735207-11736519	GM12878	blood:	n/a	n/a
32	ATF2	chr8:11704572-11705318	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr8:11718234-11718663	GM12878	blood:	n/a	n/a
34	ATF3	chr8:11720050-11720523	K562	blood:	n/a	n/a
35	ATF3	chr8:11725467-11725700	K562	blood:	n/a	n/a
36	ATF3	chr8:11759787-11760027	K562	blood:	n/a	n/a
37	ATF3	chr8:11801205-11801445	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF3	chr8:11711190-11711884	A549	lung:	n/a	chr8:11711746-11711755
39	ATF3	chr8:11801205-11801436	K562	blood:	n/a	n/a
40	ATF3	chr8:11725482-11725723	HepG2	liver:	n/a	n/a
41	ATF3	chr8:11711524-11711774	K562	blood:	n/a	chr8:11711746-11711755
42	ATF3	chr8:11686227-11686415	K562	blood:	n/a	n/a
43	ATF3	chr8:11711440-11711869	K562	blood:	n/a	chr8:11711746-11711755
44	BACH1	chr8:11766653-11766839	K562	blood:	n/a	n/a
45	BACH1	chr8:11759765-11760312	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr8:11791553-11791787	K562	blood:	n/a	n/a
47	BACH1	chr8:11815300-11815374	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr8:11816433-11816692	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr8:11720086-11720270	K562	blood:	n/a	n/a
50	BACH1	chr8:11729699-11729701	H1-hESC	embryonic stem cell:	n/a	n/a

(count:4638 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11735419-11735469	NH-A	brain:	n/a
2	chr8:11726094-11726144	HCT-116	colon:	n/a
3	chr8:11735419-11735469	NH-A	brain:	n/a
4	chr8:11726094-11726144	HCT-116	colon:	n/a
5	chr8:11835607-11835657	AG04450	lung:	fetal
6	chr8:11717853-11717903	AG04450	lung:	fetal
7	chr8:11831823-11831873	HMEC	breast:	n/a
8	chr8:11853121-11853171	AG09319	gingival:	n/a
9	chr8:11839764-11839814	AG04450	lung:	fetal
10	chr8:11843971-11844021	HRE	kidney:	n/a
11	chr8:11679319-11679369	HEK293	kidney:	embryo
12	chr8:11760342-11760392	ECC-1	luminal epithelium:	n/a
13	chr8:11813211-11813261	HEK293	kidney:	embryo
14	chr8:11725596-11725646	HEEpiC	esophagus:	n/a
15	chr8:11835607-11835657	HUVEC	blood vessel:	n/a
16	chr8:11763828-11763878	GM12892	blood:	n/a
17	chr8:11772119-11772169	HIPEpiC	eye:	n/a
18	chr8:11801365-11801415	K562	blood:	n/a
19	chr8:11755993-11756043	SK-N-SH	brain:	n/a
20	chr8:11760136-11760186	HCT-116	colon:	n/a
21	chr8:11790326-11790376	NHDF-neo	bronchial:	n/a
22	chr8:11843807-11843857	H1-hESC	embryonic stem cell:	embryo
23	chr8:11795273-11795323	A549	lung:	n/a
24	chr8:11725596-11725646	HEK293	kidney:	embryo
25	chr8:11772215-11772265	NH-A	brain:	n/a
26	chr8:11790559-11790609	HCT-116	colon:	n/a
27	chr8:11772343-11772393	HEEpiC	esophagus:	n/a
28	chr8:11724777-11724827	HCM	heart:	n/a
29	chr8:11839780-11839830	HUVEC	blood vessel:	n/a
30	chr8:11843807-11843857	HRPEpiC	eye:	n/a
31	chr8:11838843-11838893	GM06990	blood:	n/a
32	chr8:11772734-11772784	HCPEpiC	choroid plexus:	n/a
33	chr8:11721826-11721876	HEK293	kidney:	embryo
34	chr8:11755993-11756043	IMR90	lung:	fetal
35	chr8:11771498-11771548	HRCEpiC	kidney:	n/a
36	chr8:11832565-11832615	GM19239	blood:	n/a
37	chr8:11813211-11813261	HRCEpiC	kidney:	n/a
38	chr8:11790326-11790376	PFSK-1	brain:	n/a
39	chr8:11735419-11735469	HepG2	liver:	n/a
40	chr8:11843816-11843866	U87	brain:	n/a
41	chr8:11726043-11726093	Jurkat	blood:	n/a
42	chr8:11839138-11839188	NHDF-neo	bronchial:	n/a
43	chr8:11719367-11719417	HRE	kidney:	n/a
44	chr8:11843971-11844021	BJ	skin:	n/a
45	chr8:11773969-11774019	SK-N-SH_RA	brain:	n/a
46	chr8:11763828-11763878	NHBE	bronchial:	n/a
47	chr8:11839844-11839894	MCF-7	breast:	n/a
48	chr8:11759930-11759980	Hepatocyte	liver:	n/a
49	chr8:11838532-11838582	GM12891	blood:	n/a
50	chr8:11772343-11772393	Hela-S3	cervix:	n/a

(count:161 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr8:11734290..11736871-chr8:11743194..11744743,2	K562	blood:
2	chr8:11710197..11714536-chr8:11724997..11727273,4	K562	blood:
3	chr8:11732515..11734330-chr8:11735926..11737604,2	K562	blood:
4	chr8:11710836..11712408-chr8:11724380..11726355,2	MCF-7	breast:
5	chr8:11701711..11703998-chr8:11723479..11725596,2	K562	blood:
6	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
7	chr8:11662566..11665636-chr8:11705504..11707081,3	K562	blood:
8	chr8:11835676..11838476-chr8:11840654..11843385,2	K562	blood:
9	chr8:11200722..11203684-chr8:11734586..11737466,2	K562	blood:
10	chr8:11666673..11669607-chr8:11678720..11681322,2	K562	blood:
11	chr8:11718467..11721222-chr8:11754378..11756104,3	K562	blood:
12	chr8:11752267..11756149-chr8:11756562..11759200,3	MCF-7	breast:
13	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
14	chr8:11699877..11702780-chr8:11758303..11760780,3	K562	blood:
15	chr8:11701610..11705224-chr8:11724505..11726759,3	MCF-7	breast:
16	chr8:11727352..11730707-chr8:11734493..11737265,3	K562	blood:
17	chr8:11732515..11734330-chr8:11735926..11737604,2	K562	blood:
18	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
19	chr8:11820183..11822422-chr8:11827376..11829261,2	K562	blood:
20	chr8:11717376..11719253-chr8:11741735..11744320,2	K562	blood:
21	chr8:11724192..11726313-chr8:11753136..11754724,2	MCF-7	breast:
22	chr20:58672783..58673686-chr8:11698085..11698795,2	NB4	blood:
23	chr8:11701711..11703998-chr8:11723479..11725596,2	K562	blood:
24	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:
25	chr8:11699877..11702780-chr8:11758303..11760780,3	K562	blood:
26	chr8:11718857..11721432-chr8:11753489..11755957,2	K562	blood:
27	chr8:11759912..11760480-chr8:11816112..11816711,2	K562	blood:
28	chr8:11686947..11689897-chr8:11691622..11693319,2	K562	blood:
29	chr8:11710201..11712259-chr8:11713212..11714755,2	MCF-7	breast:
30	chr8:11706290..11708186-chr8:11724044..11726922,3	MCF-7	breast:
31	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:
32	chr8:11725495..11727126-chr8:11727465..11729533,2	MCF-7	breast:
33	chr8:11622652..11623752-chr8:11800899..11801806,5	MCF-7	breast:
34	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
35	chr8:11695667..11699183-chr8:11720606..11722768,3	K562	blood:
36	chr8:11833455..11835537-chr8:11843531..11845955,2	K562	blood:
37	chr8:11603020..11605526-chr8:11757590..11759777,2	K562	blood:
38	chr8:11682570..11685131-chr8:11702411..11705156,2	K562	blood:
39	chr8:11718826..11720544-chr8:11749993..11751511,2	MCF-7	breast:
40	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
41	chr8:11622903..11623629-chr8:11815893..11817036,5	K562	blood:
42	chr8:11697890..11700465-chr8:11711516..11714369,2	K562	blood:
43	chr8:11619764..11620442-chr8:11816053..11817012,3	K562	blood:
44	chr8:11678607..11680636-chr8:11724388..11726584,2	MCF-7	breast:
45	chr8:11742257..11745256-chr8:11747591..11749952,2	K562	blood:
46	chr8:11851923..11853652-chr8:11853797..11856578,2	K562	blood:
47	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
48	chr8:11717376..11719253-chr8:11741735..11744320,2	K562	blood:
49	chr8:11819737..11820672-chr8:11872272..11872975,3	MCF-7	breast:
50	chr8:11724109..11726850-chr8:11734821..11736918,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTSB-1	chr8:11754271-11754379	NONHSAT125100
2	lnc-DEFB135-1	chr8:11856596-11856977	NONHSAT125105
3	lnc-FDFT1-1	chr8:11701603-11702070	expReg_chr8_457_+
4	lnc-RP11-297N6.4.1-2	chr8:11703663-11703900	ENSG00000269899.1
5	lnc-CTSB-2	chr8:11777409-11778318	NONHSAT125102
6	lnc-CTSB-1	chr8:11753359-11753626	NONHSAT125100

No data

Variant related genes	Relation type
DEFB134	TF binding region
DEFB136	TF binding region
CTSB	TF binding region
FDFT1	TF binding region
DEFB135	TF binding region
OR7E161P	TF binding region
ENSG00000255174	TF binding region
ENSG00000269899	TF binding region
OR7E158P	TF binding region
ENSG00000255144	TF binding region
DEFB134	CpG island
DEFB136	CpG island
CTSB	CpG island
FDFT1	CpG island
DEFB135	CpG island
OR7E161P	CpG island
ENSG00000255174	CpG island
ENSG00000269899	CpG island
OR7E158P	CpG island
ENSG00000255144	CpG island
ENSG00000154328	chromatin interactions
ENSG00000269899	chromatin interactions
ENSG00000103257	chromatin interactions
ENSG00000070961	chromatin interactions
ENSG00000205883	chromatin interactions
ENSG00000205882	chromatin interactions
ENSG00000205884	chromatin interactions
ENSG00000079459	chromatin interactions
ENSG00000164733	chromatin interactions
ENSG00000255046	chromatin interactions
ENSG00000255144	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 11409 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:11409 , 50 per page) page: 1 2 3 4 5 6 7 ... 229

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201713766	chr8:11679273-11679274	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs551636128	chr8:11679274-11679275	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs150867299	chr8:11679299-11679300	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200465082	chr8:11679302-11679303	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373449722	chr8:11679309-11679310	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138781417	chr8:11679319-11679320	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201022112	chr8:11679320-11679321	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139354492	chr8:11679336-11679337	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200916527	chr8:11679365-11679366	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146968242	chr8:11679366-11679367	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199864384	chr8:11679368-11679369	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545547539	chr8:11679378-11679379	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199577543	chr8:11679405-11679406	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539919508	chr8:11679410-11679411	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375652985	chr8:11679420-11679421	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370562067	chr8:11679429-11679430	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374015675	chr8:11679438-11679439	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145714111	chr8:11679443-11679444	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546761457	chr8:11679444-11679445	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189285587	chr8:11679445-11679446	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147321316	chr8:11679456-11679457	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs73663013	chr8:11679464-11679465	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs71518538	chr8:11679472-11679473	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs370641317	chr8:11679485-11679486	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs569528511	chr8:11679522-11679523	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs567142937	chr8:11679524-11679525	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73663014	chr8:11679531-11679532	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528936681	chr8:11679532-11679533	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139471417	chr8:11679558-11679559	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs534745610	chr8:11679564-11679565	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182132664	chr8:11679565-11679566	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574137360	chr8:11679575-11679576	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535043973	chr8:11679577-11679578	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10465005	chr8:11679602-11679603	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200483485	chr8:11679618-11679619	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535527963	chr8:11679625-11679626	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144998800	chr8:11679627-11679628	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs545694372	chr8:11679650-11679651	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187256504	chr8:11679665-11679666	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs147891726	chr8:11679675-11679676	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191733145	chr8:11679682-11679683	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs376870851	chr8:11679707-11679708	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs56693888	chr8:11679710-11679711	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370204503	chr8:11679713-11679714	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562152690	chr8:11679744-11679745	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529312462	chr8:11679757-11679758	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs370197831	chr8:11679774-11679775	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201434098	chr8:11679782-11679783	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34809309	chr8:11679783-11679784	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533706623	chr8:11679787-11679788	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:149)

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
Osteosarcoma	21215367	CNVD

Chromatin state (count:4531 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11667200-11683800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:11669400-11708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:11670000-11689200	Weak transcription	Fetal Heart	heart
5	chr8:11671400-11701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:11671800-11679600	Weak transcription	Brain Germinal Matrix	brain
7	chr8:11675200-11707000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:11675800-11712600	Strong transcription	Dnd41	blood
9	chr8:11676000-11690600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:11676200-11704800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:11676800-11680400	Genic enhancers	HepG2	liver
12	chr8:11676800-11681200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:11677000-11685800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:11677000-11705200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:11677200-11690600	Strong transcription	HMEC	breast
16	chr8:11677200-11690800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:11677200-11704400	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr8:11677400-11682200	Strong transcription	Thymus	Thymus
19	chr8:11677400-11690400	Strong transcription	NHEK	skin
20	chr8:11677600-11679400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:11677600-11680600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:11677600-11681400	Strong transcription	Aorta	Aorta
23	chr8:11677600-11682400	Strong transcription	Fetal Intestine Large	intestine
24	chr8:11677600-11682400	Strong transcription	Fetal Muscle Leg	muscle
25	chr8:11677600-11688600	Strong transcription	Fetal Intestine Small	intestine
26	chr8:11677600-11691800	Strong transcription	Osteobl	bone
27	chr8:11677600-11702000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:11677600-11702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:11677600-11703200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:11677600-11708200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:11677600-11710600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:11677600-11711800	Strong transcription	Fetal Brain Female	brain
33	chr8:11677800-11679400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:11677800-11682200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:11677800-11682400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr8:11677800-11690600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:11677800-11706600	Strong transcription	NHLF	lung
38	chr8:11678000-11679400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:11678000-11679400	Weak transcription	Fetal Lung	lung
40	chr8:11678000-11680000	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr8:11678000-11680400	Strong transcription	Hela-S3	cervix
42	chr8:11678000-11681800	Strong transcription	HSMM	muscle
43	chr8:11678000-11682400	Strong transcription	NH-A	brain
44	chr8:11678000-11693400	Strong transcription	A549	lung
45	chr8:11678000-11707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:11678200-11679400	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr8:11678200-11679600	Genic enhancers	K562	blood
48	chr8:11678200-11681000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:11678200-11681000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:11678200-11681200	Strong transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links