Variant report

Variant	esv3384862
Chromosome Location	chr8:104511126-104513424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:612)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:104511924-104512119	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:104512668-104512965	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:104510832-104511723	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr8:104512515-104512607	H1-hESC	embryonic stem cell:	n/a	chr8:104512571-104512581
5	CHD1	chr8:104511567-104511613	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr8:104512813-104513160	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr8:104512827-104513021	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr8:104510982-104511610	H1-hESC	embryonic stem cell:	n/a	chr8:104511042-104511052
9	CTBP2	chr8:104510977-104513239	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:104511740-104511890	GM12869	blood:	n/a	n/a
11	CTCF	chr8:104511620-104511770	GM12866	blood:	n/a	n/a
12	CTCF	chr8:104511679-104511884	GM19239	blood:	n/a	n/a
13	CTCF	chr8:104511301-104511427	MCF-7	breast:	n/a	n/a
14	CTCF	chr8:104511240-104511390	MCF-7	breast:	n/a	n/a
15	CTCF	chr8:104511560-104511710	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr8:104511540-104511690	GM12871	blood:	n/a	n/a
17	CTCF	chr8:104511260-104511410	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr8:104511650-104511885	GM12892	blood:	n/a	n/a
19	CTCF	chr8:104511680-104511830	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr8:104511335-104511516	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:104511700-104511850	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr8:104511588-104511964	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr8:104511660-104511810	GM12868	blood:	n/a	n/a
24	CTCF	chr8:104511566-104511980	GM12891	blood:	n/a	n/a
25	CTCF	chr8:104511740-104511890	GM12871	blood:	n/a	n/a
26	CTCF	chr8:104511641-104511953	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:104511680-104511830	GM12875	blood:	n/a	n/a
28	CTCF	chr8:104511220-104511370	GM12873	blood:	n/a	n/a
29	CTCF	chr8:104511654-104511927	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr8:104511320-104511470	AG09319	gingival:	n/a	n/a
31	CTCF	chr8:104511659-104511833	Fibrobl	skin:	n/a	n/a
32	CTCF	chr8:104511300-104511450	AG04449	skin:	n/a	n/a
33	CTCF	chr8:104511260-104511410	GM12864	blood:	n/a	n/a
34	CTCF	chr8:104511220-104511370	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr8:104511557-104511559	GM12891	blood:	n/a	n/a
36	CTCF	chr8:104511500-104511650	MCF-7	breast:	n/a	n/a
37	CTCF	chr8:104511355-104511404	GM19238	blood:	n/a	n/a
38	CTCF	chr8:104511680-104511830	HMEC	breast:	n/a	n/a
39	CTCF	chr8:104511676-104511964	NHEK	skin:	n/a	n/a
40	CTCF	chr8:104511240-104511390	BE2_C	brain:	n/a	n/a
41	CTCF	chr8:104511329-104511458	A549	lung:	n/a	n/a
42	CTCF	chr8:104511260-104511410	GM12871	blood:	n/a	n/a
43	CTCF	chr8:104511621-104511983	MCF-7	breast:	n/a	n/a
44	CTCF	chr8:104511740-104511890	GM06990	blood:	n/a	n/a
45	CTCF	chr8:104511727-104511841	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr8:104511640-104511790	BE2_C	brain:	n/a	n/a
47	CTCF	chr8:104511632-104511945	GM19238	blood:	n/a	n/a
48	CTCF	chr8:104511680-104511830	GM12874	blood:	n/a	n/a
49	CTCF	chr8:104511720-104511870	HRE	kidney:	n/a	n/a
50	CTCF	chr8:104511000-104511150	SAEC	small airway:	n/a	chr8:104511046-104511059

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:104511776-104511826	AG04450	lung:	fetal
2	chr8:104512168-104512218	K562	blood:	n/a
3	chr8:104511776-104511826	AG04450	lung:	fetal
4	chr8:104512168-104512218	K562	blood:	n/a
5	chr8:104512858-104512908	GM12891	blood:	n/a
6	chr8:104511281-104511331	NHBE	bronchial:	n/a
7	chr8:104511776-104511826	GM12891	blood:	n/a
8	chr8:104513024-104513074	GM06990	blood:	n/a
9	chr8:104513024-104513074	SK-N-SH	brain:	n/a
10	chr8:104512317-104512367	K562	blood:	n/a
11	chr8:104512423-104512473	H1-hESC	embryonic stem cell:	embryo
12	chr8:104513024-104513074	HRE	kidney:	n/a
13	chr8:104511281-104511331	BJ	skin:	n/a
14	chr8:104512168-104512218	HNPCEpiC	eye:	n/a
15	chr8:104511281-104511331	AG04449	skin:	fetal
16	chr8:104513186-104513236	PrEC	prostate:	n/a
17	chr8:104513024-104513074	HIPEpiC	eye:	n/a
18	chr8:104512423-104512473	PrEC	prostate:	n/a
19	chr8:104513083-104513133	HAEpiC	amniotic membrane:	n/a
20	chr8:104512858-104512908	H1-hESC	embryonic stem cell:	embryo
21	chr8:104513083-104513133	PFSK-1	brain:	n/a
22	chr8:104511281-104511331	ProgFib	skin:	n/a
23	chr8:104512423-104512473	HMEC	breast:	n/a
24	chr8:104511291-104511341	HRCEpiC	kidney:	n/a
25	chr8:104512858-104512908	AG09309	skin:	n/a
26	chr8:104511291-104511341	AG04449	skin:	fetal
27	chr8:104513024-104513074	AG04449	skin:	fetal
28	chr8:104511776-104511826	BE2_C	brain:	n/a
29	chr8:104511776-104511826	HIPEpiC	eye:	n/a
30	chr8:104511776-104511826	HCM	heart:	n/a
31	chr8:104512423-104512473	NHDF-neo	bronchial:	n/a
32	chr8:104511281-104511331	HRPEpiC	eye:	n/a
33	chr8:104513024-104513074	HRCEpiC	kidney:	n/a
34	chr8:104512317-104512367	NHBE	bronchial:	n/a
35	chr8:104511281-104511331	HUVEC	blood vessel:	n/a
36	chr8:104512858-104512908	HCM	heart:	n/a
37	chr8:104512168-104512218	GM06990	blood:	n/a
38	chr8:104511291-104511341	MCF-7	breast:	n/a
39	chr8:104512168-104512218	Hepatocyte	liver:	n/a
40	chr8:104512317-104512367	AoSMC	blood vessel:	n/a
41	chr8:104511281-104511331	Jurkat	blood:	n/a
42	chr8:104511281-104511331	HRCEpiC	kidney:	n/a
43	chr8:104512423-104512473	GM12878	blood:	n/a
44	chr8:104511776-104511826	NT2-D1	testis:	n/a
45	chr8:104511291-104511341	SK-N-SH_RA	brain:	n/a
46	chr8:104513083-104513133	Jurkat	blood:	n/a
47	chr8:104513024-104513074	Jurkat	blood:	n/a
48	chr8:104511281-104511331	MCF-7	breast:	n/a
49	chr8:104511776-104511826	SK-N-SH_RA	brain:	n/a
50	chr8:104512858-104512908	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104424987..104428689-chr8:104510615..104514344,5	MCF-7	breast:
2	chr20:52209323..52210926-chr8:104513157..104515748,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A32-3	chr8:104511198-104511722	XLOC_007177
2	lnc-SLC25A32-3	chr8:104511734-104511823	XLOC_007177
3	lnc-SLC25A32-3	chr8:104510404-104512975	NONHSAT128193
4	lnc-SLC25A32-3	chr8:104511115-104511783	NONHSAT128194

No data

Variant related genes	Relation type
RIMS2	TF binding region
ENSG00000253477	TF binding region
RIMS2	CpG island
ENSG00000253477	CpG island
ENSG00000171940	chromatin interactions
ENSG00000164933	chromatin interactions
ENSG00000164934	chromatin interactions
MEF2C	miRNA target sites

Extended variants
information (count: 82 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115591035	chr8:104511150-104511151	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs377116717	chr8:104511165-104511166	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs564584878	chr8:104511198-104511199	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs200966940	chr8:104511200-104511201	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs7005300	chr8:104511208-104511209	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541817585	chr8:104511253-104511254	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs377398361	chr8:104511259-104511260	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs374773699	chr8:104511289-104511290	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs182755089	chr8:104511291-104511292	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs573016930	chr8:104511359-104511360	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs557327716	chr8:104511364-104511365	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs529891338	chr8:104511386-104511387	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs548005316	chr8:104511401-104511402	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs533389631	chr8:104511407-104511408	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs34294578	chr8:104511409-104511410	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114776419	chr8:104511493-104511494	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs78695281	chr8:104511540-104511541	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs1865856	chr8:104511594-104511595	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs191339437	chr8:104511667-104511668	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs556153416	chr8:104511674-104511675	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs145861998	chr8:104511683-104511684	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs184533210	chr8:104511702-104511703	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs554433886	chr8:104511749-104511750	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs572583175	chr8:104511755-104511756	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs546377379	chr8:104511779-104511780	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs564465913	chr8:104511863-104511864	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs71520819	chr8:104511978-104511979	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs543415948	chr8:104511983-104511984	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs561718947	chr8:104511993-104511994	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs529952141	chr8:104512053-104512054	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs548222114	chr8:104512078-104512079	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs113699868	chr8:104512103-104512104	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	mRNA abundance
33	rs553473547	chr8:104512114-104512115	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs527538600	chr8:104512142-104512143	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs552338181	chr8:104512184-104512185	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs377327050	chr8:104512273-104512274	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs570461507	chr8:104512282-104512283	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs537890399	chr8:104512392-104512393	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs113717816	chr8:104512396-104512397	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs376673458	chr8:104512425-104512426	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs189013343	chr8:104512428-104512429	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs541902123	chr8:104512454-104512455	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs377147431	chr8:104512465-104512466	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs115132834	chr8:104512476-104512477	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	mRNA abundance
45	rs138700593	chr8:104512477-104512478	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs539655437	chr8:104512507-104512508	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs547295867	chr8:104512523-104512524	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs2437765	chr8:104512524-104512525	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs543477226	chr8:104512571-104512572	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs370957888	chr8:104512641-104512642	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Autism	20531469	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104510400-104511400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:104510400-104514200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:104510400-104514400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:104510400-104514600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:104510400-104514800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:104510400-104515000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr8:104510600-104511200	Bivalent Enhancer	Fetal Brain Male	brain
8	chr8:104510600-104511200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr8:104510600-104511200	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr8:104510600-104511400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr8:104510600-104511400	Flanking Bivalent TSS/Enh	NH-A	brain
12	chr8:104510600-104511400	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr8:104510600-104511600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:104510600-104511600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
15	chr8:104510600-104511800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:104510600-104511800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:104510600-104512600	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:104510600-104513200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:104510600-104514200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:104510600-104514200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:104510600-104514200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:104510600-104514200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:104510600-104514400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:104510600-104514400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:104510600-104514600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:104510600-104514600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr8:104510600-104514800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:104510800-104511200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:104510800-104511200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
30	chr8:104510800-104511200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr8:104510800-104511200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:104510800-104511200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:104510800-104511200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr8:104510800-104511200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:104510800-104511200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr8:104510800-104511200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr8:104510800-104511200	Bivalent Enhancer	Placenta	Placenta
38	chr8:104510800-104511200	Enhancers	Gastric	stomach
39	chr8:104510800-104511200	Bivalent Enhancer	Left Ventricle	heart
40	chr8:104510800-104511400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
41	chr8:104510800-104511400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr8:104510800-104511400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr8:104510800-104511400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:104510800-104511400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:104510800-104511400	Bivalent Enhancer	Liver	Liver
46	chr8:104510800-104511400	Active TSS	Brain Angular Gyrus	brain
47	chr8:104510800-104511400	Active TSS	Esophagus	oesophagus
48	chr8:104510800-104511400	Bivalent Enhancer	Fetal Heart	heart
49	chr8:104510800-104511400	Bivalent/Poised TSS	Fetal Kidney	kidney
50	chr8:104510800-104511600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum

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