Variant report

Variant	nsv1033760
Chromosome Location	chr8:48852925-48961374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3231)
CpG islands
(count:1831)
Chromatin interactive
region (count:122)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:3231 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:48872565-48873634	HepG2	liver:	n/a	chr8:48873270-48873278
2	ARID3A	chr8:48909808-48910086	K562	blood:	n/a	n/a
3	ARID3A	chr8:48920792-48921191	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:48909809-48910128	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:48915966-48916230	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:48905475-48905861	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:48954659-48955530	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:48909052-48909241	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:48879708-48880140	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:48872863-48873605	K562	blood:	n/a	chr8:48873270-48873278
11	ARID3A	chr8:48895484-48895695	HepG2	liver:	n/a	n/a
12	ATF1	chr8:48920761-48921122	K562	blood:	n/a	n/a
13	ATF1	chr8:48911599-48911799	K562	blood:	n/a	n/a
14	ATF1	chr8:48873182-48873558	K562	blood:	n/a	n/a
15	ATF2	chr8:48872659-48873677	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr8:48872671-48873661	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr8:48872229-48873077	GM12878	blood:	n/a	n/a
18	ATF2	chr8:48873078-48873648	GM12878	blood:	n/a	n/a
19	ATF2	chr8:48920689-48921069	GM12878	blood:	n/a	n/a
20	ATF2	chr8:48872630-48873618	GM12878	blood:	n/a	n/a
21	ATF3	chr8:48920846-48921194	A549	lung:	n/a	n/a
22	ATF3	chr8:48920796-48921148	A549	lung:	n/a	n/a
23	ATF3	chr8:48873139-48873694	A549	lung:	n/a	chr8:48873579-48873588
24	ATF3	chr8:48920715-48921150	K562	blood:	n/a	n/a
25	ATF3	chr8:48872460-48872962	A549	lung:	n/a	chr8:48872766-48872775
26	ATF3	chr8:48872471-48872782	K562	blood:	n/a	chr8:48872766-48872775
27	ATF3	chr8:48873076-48873396	A549	lung:	n/a	n/a
28	BACH1	chr8:48920856-48921088	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr8:48892735-48892903	K562	blood:	n/a	n/a
30	BACH1	chr8:48873138-48874173	H1-hESC	embryonic stem cell:	n/a	chr8:48873984-48873998
31	BACH1	chr8:48874797-48874813	K562	blood:	n/a	n/a
32	BACH1	chr8:48872546-48872866	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr8:48872877-48873374	K562	blood:	n/a	n/a
34	BATF	chr8:48873803-48874147	GM12878	blood:	n/a	chr8:48873984-48873994 chr8:48873987-48873998
35	BATF	chr8:48949938-48950269	GM12878	blood:	n/a	n/a
36	BATF	chr8:48886372-48886721	GM12878	blood:	n/a	n/a
37	BATF	chr8:48947286-48947520	GM12878	blood:	n/a	n/a
38	BATF	chr8:48947249-48947622	GM12878	blood:	n/a	n/a
39	BATF	chr8:48886320-48886704	GM12878	blood:	n/a	n/a
40	BCL3	chr8:48872454-48873792	A549	lung:	n/a	chr8:48872767-48872776 chr8:48872461-48872474 chr8:48872755-48872768 chr8:48872460-48872473 chr8:48873581-48873594 chr8:48873624-48873637
41	BCLAF1	chr8:48920710-48921420	GM12878	blood:	n/a	chr8:48920936-48920949 chr8:48920951-48920960
42	BCLAF1	chr8:48920662-48921584	K562	blood:	n/a	chr8:48920936-48920949 chr8:48920951-48920960
43	BCLAF1	chr8:48872468-48873772	GM12878	blood:	n/a	chr8:48872767-48872776 chr8:48872755-48872768 chr8:48873581-48873594 chr8:48873624-48873637
44	BCLAF1	chr8:48872350-48874375	GM12878	blood:	n/a	chr8:48873810-48873819 chr8:48872767-48872776 chr8:48872461-48872474 chr8:48872755-48872768 chr8:48872460-48872473 chr8:48873581-48873594 chr8:48873624-48873637
45	BHLHE40	chr8:48886509-48886614	GM12878	blood:	n/a	n/a
46	BHLHE40	chr8:48920343-48921461	HepG2	liver:	n/a	chr8:48921081-48921097 chr8:48921092-48921108
47	BHLHE40	chr8:48872531-48874820	GM12878	blood:	n/a	chr8:48873449-48873465 chr8:48874352-48874361 chr8:48873801-48873817 chr8:48873882-48873898 chr8:48872698-48872714 chr8:48872787-48872803 chr8:48873825-48873841
48	BHLHE40	chr8:48909901-48910101	K562	blood:	n/a	n/a
49	BHLHE40	chr8:48920260-48921514	K562	blood:	n/a	chr8:48921081-48921097 chr8:48921092-48921108
50	BHLHE40	chr8:48872701-48873540	A549	lung:	n/a	chr8:48873449-48873465 chr8:48872787-48872803

(count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48889520-48889570	MCF-7	breast:	n/a
2	chr8:48889520-48889570	MCF-7	breast:	n/a
3	chr8:48869819-48869869	SK-N-MC	brain:	n/a
4	chr8:48920858-48920908	NT2-D1	testis:	n/a
5	chr8:48889520-48889570	K562	blood:	n/a
6	chr8:48873190-48873240	SK-N-MC	brain:	n/a
7	chr8:48920860-48920910	H1-hESC	embryonic stem cell:	embryo
8	chr8:48920777-48920827	HCT-116	colon:	n/a
9	chr8:48872876-48872926	PrEC	prostate:	n/a
10	chr8:48920860-48920910	Hepatocyte	liver:	n/a
11	chr8:48920860-48920910	HIPEpiC	eye:	n/a
12	chr8:48921337-48921387	AG04449	skin:	fetal
13	chr8:48889520-48889570	Caco-2	colon:	n/a
14	chr8:48920860-48920910	SAEC	small airway:	n/a
15	chr8:48910636-48910686	NH-A	brain:	n/a
16	chr8:48873951-48874001	GM12878	blood:	n/a
17	chr8:48920460-48920510	HAEpiC	amniotic membrane:	n/a
18	chr8:48872876-48872926	Hela-S3	cervix:	n/a
19	chr8:48873190-48873240	MCF10A-Er-Src	breast:	n/a
20	chr8:48872801-48872851	AG09309	skin:	n/a
21	chr8:48889520-48889570	GM12891	blood:	n/a
22	chr8:48873358-48873408	BJ	skin:	n/a
23	chr8:48873951-48874001	HCM	heart:	n/a
24	chr8:48920860-48920910	HNPCEpiC	eye:	n/a
25	chr8:48889520-48889570	LNCaP	prostate:	n/a
26	chr8:48920818-48920868	T-47D	breast:	n/a
27	chr8:48873358-48873408	AG10803	skin:	n/a
28	chr8:48889520-48889570	GM12878	blood:	n/a
29	chr8:48920838-48920888	HepG2	liver:	n/a
30	chr8:48872822-48872872	MCF10A-Er-Src	breast:	n/a
31	chr8:48873358-48873408	HCF	heart:	n/a
32	chr8:48872801-48872851	H1-hESC	embryonic stem cell:	embryo
33	chr8:48873951-48874001	SK-N-SH_RA	brain:	n/a
34	chr8:48910778-48910828	H1-hESC	embryonic stem cell:	embryo
35	chr8:48910636-48910686	AG09309	skin:	n/a
36	chr8:48872801-48872851	HRPEpiC	eye:	n/a
37	chr8:48924348-48924398	HL-60	blood:	n/a
38	chr8:48910636-48910686	HRPEpiC	eye:	n/a
39	chr8:48872865-48872915	GM12891	blood:	n/a
40	chr8:48920761-48920811	Jurkat	blood:	n/a
41	chr8:48920858-48920908	NHBE	bronchial:	n/a
42	chr8:48854968-48855018	GM19239	blood:	n/a
43	chr8:48910778-48910828	NT2-D1	testis:	n/a
44	chr8:48873906-48873956	GM19239	blood:	n/a
45	chr8:48920777-48920827	RPTEC	kidney:	n/a
46	chr8:48921062-48921112	AG10803	skin:	n/a
47	chr8:48920860-48920910	HCM	heart:	n/a
48	chr8:48921337-48921387	ProgFib	skin:	n/a
49	chr8:48872822-48872872	Caco-2	colon:	n/a
50	chr8:48871883-48871933	H1-hESC	embryonic stem cell:	embryo

(count:122 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:48854339..48856156-chr8:48856276..48857926,2	MCF-7	breast:
2	chr8:48854376..48857161-chr8:48889369..48891262,2	MCF-7	breast:
3	chr8:48878812..48881751-chr8:48883436..48885898,2	MCF-7	breast:
4	chr8:48877125..48879672-chr8:48915015..48917737,2	MCF-7	breast:
5	chr8:48900497..48902093-chr8:48902216..48905127,2	MCF-7	breast:
6	chr8:48872462..48875163-chr8:48911695..48914343,2	K562	blood:
7	chr8:48957775..48961134-chr8:48963246..48966717,4	K562	blood:
8	chr8:48838333..48840946-chr8:48864623..48866486,2	K562	blood:
9	chr8:48900431..48902138-chr8:48907383..48908901,2	MCF-7	breast:
10	chr1:231376337..231376897-chr8:48920964..48921687,2	Hela-S3	cervix:
11	chr8:48949897..48951407-chr8:48952676..48954247,2	MCF-7	breast:
12	chr11:75273252..75273856-chr8:48873481..48874356,2	NB4	blood:
13	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:
14	chr8:48880651..48882181-chr8:48887317..48888822,2	MCF-7	breast:
15	chr8:48853605..48856725-chr8:48865845..48868250,3	MCF-7	breast:
16	chr8:48872465..48875841-chr8:48908901..48912776,4	MCF-7	breast:
17	chr8:48852455..48853957-chr8:48859458..48861403,2	K562	blood:
18	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
19	chr8:48938195..48942344-chr8:48943305..48947689,4	K562	blood:
20	chr8:48868410..48871024-chr8:48887533..48889835,2	MCF-7	breast:
21	chr8:48906937..48908708-chr8:48918974..48921656,2	K562	blood:
22	chr8:48871644..48875335-chr8:48903503..48906313,3	MCF-7	breast:
23	chr8:48896074..48898394-chr8:48900447..48902848,3	K562	blood:
24	chr8:48878812..48881751-chr8:48883436..48885898,2	MCF-7	breast:
25	chr8:48924342..48926810-chr8:48928221..48931397,3	K562	blood:
26	chr8:48896074..48898394-chr8:48900447..48902848,3	K562	blood:
27	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:
28	chr8:48909455..48910993-chr8:49046960..49049925,2	K562	blood:
29	chr8:48872215..48874076-chr8:48929910..48932503,2	MCF-7	breast:
30	chr8:48915545..48918522-chr8:48918892..48921377,2	MCF-7	breast:
31	chr8:48835669..48838188-chr8:48855543..48858142,2	K562	blood:
32	chr8:48885569..48887967-chr8:48920138..48922569,2	K562	blood:
33	chr8:48854634..48856669-chr8:48858159..48861110,3	MCF-7	breast:
34	chr8:48909845..48912339-chr8:48920798..48922536,2	MCF-7	breast:
35	chr8:48919638..48923031-chr8:48924229..48928095,7	MCF-7	breast:
36	chr7:87505419..87506040-chr8:48873108..48873913,2	NB4	blood:
37	chr8:48933639..48936147-chr8:48936317..48938492,2	K562	blood:
38	chr8:48869236..48871124-chr8:48909959..48911972,2	K562	blood:
39	chr8:48881714..48884143-chr8:48924954..48927887,2	MCF-7	breast:
40	chr8:48907169..48911737-chr8:48918914..48922421,4	K562	blood:
41	chr8:48858446..48860800-chr8:48864491..48866014,2	K562	blood:
42	chr8:48873301..48875713-chr8:48914847..48916375,2	K562	blood:
43	chr8:48854634..48856669-chr8:48858159..48861110,3	MCF-7	breast:
44	chr8:48878378..48881135-chr8:48887828..48890847,3	MCF-7	breast:
45	chr8:48882454..48885228-chr8:48899510..48901069,2	K562	blood:
46	chr8:48871876..48875068-chr8:48914519..48916969,3	MCF-7	breast:
47	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
48	chr8:48872462..48875713-chr8:48912843..48916347,3	K562	blood:
49	chr8:48845787..48848384-chr8:48854733..48856494,2	MCF-7	breast:
50	chr8:48871178..48874087-chr8:48899526..48903049,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MCM4-1	chr8:48855141-48855324	NONHSAT126462
2	lnc-MCM4-2	chr8:48854790-48855069	NONHSAT126461
3	lnc-MCM4-1	chr8:48857309-48857338	NONHSAT126462
4	lnc-MCM4-2	chr8:48854048-48854246	NONHSAT126461

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MCM4	hsa-miR-183-5p	chr8:48889872-48889892
2	MCM4	hsa-miR-24-3p	chr8:48875505-48875525
3	MCM4	hsa-miR-24-3p	chr8:48875419-48875419

Variant related genes	Relation type
PRKDC	TF binding region
MCM4	TF binding region
UBE2V2	TF binding region
RNU6-519P	TF binding region
PRKDC	CpG island
MCM4	CpG island
UBE2V2	CpG island
RNU6-519P	CpG island
ENSG00000101213	chromatin interactions
ENSG00000253729	chromatin interactions
ENSG00000199568	chromatin interactions
ENSG00000131408	chromatin interactions
ENSG00000104738	chromatin interactions
ENSG00000169139	chromatin interactions
ENSG00000006634	chromatin interactions
ENSG00000222522	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000075303	chromatin interactions
ENSG00000128915	chromatin interactions
ENSG00000157557	chromatin interactions
ENSG00000174442	chromatin interactions
ENSG00000245534	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000143633	chromatin interactions

Extended variants
information (count: 4058 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:4058 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116649159	chr8:48852941-48852942	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs148674517	chr8:48852944-48852945	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567666089	chr8:48853004-48853005	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537192253	chr8:48853066-48853067	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377763470	chr8:48853078-48853079	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183887829	chr8:48853160-48853161	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553562324	chr8:48853236-48853237	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs34375266	chr8:48853251-48853252	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs113995558	chr8:48853278-48853279	Strong transcription Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs34591391	chr8:48853298-48853299	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545904171	chr8:48853301-48853302	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78774456	chr8:48853377-48853378	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186093090	chr8:48853421-48853422	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs543399679	chr8:48853426-48853427	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371275139	chr8:48853430-48853431	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs190553324	chr8:48853433-48853434	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs529245710	chr8:48853441-48853442	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs541318004	chr8:48853448-48853449	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs182778114	chr8:48853453-48853454	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532956470	chr8:48853466-48853467	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs551861222	chr8:48853477-48853478	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570357197	chr8:48853527-48853528	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs187288205	chr8:48853555-48853556	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs557072729	chr8:48853598-48853599	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192767824	chr8:48853613-48853614	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs567304000	chr8:48853617-48853618	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs535010470	chr8:48853634-48853635	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs374020276	chr8:48853640-48853641	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs553361292	chr8:48853646-48853647	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs183250612	chr8:48853659-48853660	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs538817881	chr8:48853694-48853695	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs187780216	chr8:48853701-48853702	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs567805649	chr8:48853702-48853703	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs543536419	chr8:48853720-48853721	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs534406629	chr8:48853738-48853739	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs573658118	chr8:48853747-48853748	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs541341174	chr8:48853754-48853755	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs536460422	chr8:48853763-48853764	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs542639756	chr8:48853840-48853841	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs533153878	chr8:48853886-48853887	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs367904952	chr8:48853895-48853896	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs563133644	chr8:48853932-48853933	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs559683984	chr8:48853936-48853937	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs189505631	chr8:48853967-48853968	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs76507025	chr8:48853968-48853969	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs528432368	chr8:48854005-48854006	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs142217410	chr8:48854118-48854119	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs192534418	chr8:48854140-48854141	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs565394167	chr8:48854174-48854175	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs151222189	chr8:48854178-48854179	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
22q11 deletion syndrome	20357662	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3222 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:48800600-48854000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:48814000-48853800	Strong transcription	A549	lung
11	chr8:48820000-48857400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:48820000-48871000	Strong transcription	Fetal Intestine Large	intestine
13	chr8:48820200-48853400	Strong transcription	Fetal Thymus	thymus
14	chr8:48820400-48854800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:48820400-48870000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr8:48820400-48870000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:48822400-48870800	Strong transcription	Liver	Liver
18	chr8:48822600-48860000	Strong transcription	Hela-S3	cervix
19	chr8:48822600-48870600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:48822600-48870800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:48823200-48854600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:48823200-48870600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:48824200-48870200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:48824800-48870000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:48830600-48857400	Strong transcription	HSMM	muscle
26	chr8:48830800-48857200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:48831400-48859000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:48833800-48870800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:48833800-48870800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:48834000-48853400	Strong transcription	Placenta	Placenta
31	chr8:48834000-48856800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:48834000-48869200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:48834000-48869400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:48834000-48869400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:48834400-48870200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr8:48834600-48853200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:48835400-48870200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:48835800-48871600	Strong transcription	Primary B cells from cord blood	blood
39	chr8:48836000-48856800	Strong transcription	Osteobl	bone
40	chr8:48836400-48853800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:48836400-48854600	Weak transcription	Small Intestine	intestine
42	chr8:48836600-48853800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:48836800-48853800	Strong transcription	HMEC	breast
44	chr8:48837400-48860400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:48838800-48854000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:48838800-48854000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:48838800-48857600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:48838800-48871000	Strong transcription	Primary T cells from cord blood	blood
49	chr8:48839000-48860200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:48839000-48869400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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