Variant report

Variant	esv3323390
Chromosome Location	chr1:169074353-169076901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:817)
CpG islands
(count:611)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:169075043-169075796	HepG2	liver:	n/a	n/a
2	BACH1	chr1:169074410-169074663	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:169075028-169075304	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:169074631-169075173	K562	blood:	n/a	chr1:169075043-169075059 chr1:169074805-169074814 chr1:169074800-169074821
5	BHLHE40	chr1:169075478-169075640	K562	blood:	n/a	n/a
6	BHLHE40	chr1:169074545-169075781	HepG2	liver:	n/a	chr1:169075043-169075059 chr1:169075464-169075480 chr1:169075289-169075305 chr1:169074805-169074814 chr1:169075244-169075260 chr1:169074800-169074821
7	BHLHE40	chr1:169074635-169075218	GM12878	blood:	n/a	chr1:169074805-169074814 chr1:169074800-169074821 chr1:169075043-169075059
8	BHLHE40	chr1:169074640-169075095	A549	lung:	n/a	chr1:169075043-169075059 chr1:169074805-169074814 chr1:169074800-169074821
9	BHLHE40	chr1:169075506-169076112	GM12878	blood:	n/a	chr1:169076038-169076054 chr1:169075939-169075955
10	BRCA1	chr1:169075486-169075677	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:169074646-169075070	HepG2	liver:	n/a	n/a
12	BRCA1	chr1:169075531-169076651	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr1:169076320-169076332	HepG2	liver:	n/a	n/a
14	CBX3	chr1:169075382-169076180	K562	blood:	n/a	n/a
15	CCNT2	chr1:169074976-169076452	K562	blood:	n/a	chr1:169076363-169076372 chr1:169075730-169075739
16	CEBPB	chr1:169075926-169077249	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:169074848-169075137	Hela-S3	cervix:	n/a	chr1:169074898-169074909
18	CEBPB	chr1:169075409-169075687	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:169074792-169075092	A549	lung:	n/a	chr1:169074898-169074909
20	CEBPB	chr1:169074781-169075636	HepG2	liver:	n/a	chr1:169074898-169074909
21	CEBPB	chr1:169074743-169075725	HepG2	liver:	n/a	chr1:169074898-169074909
22	CEBPD	chr1:169075276-169075805	HepG2	liver:	n/a	n/a
23	CEBPD	chr1:169074811-169075839	HepG2	liver:	n/a	n/a
24	CHD1	chr1:169075808-169077012	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD1	chr1:169075598-169075779	GM12878	blood:	n/a	n/a
26	CHD1	chr1:169075831-169078461	IMR90	lung:	n/a	n/a
27	CHD2	chr1:169076041-169076177	K562	blood:	n/a	n/a
28	CHD2	chr1:169075394-169075705	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr1:169074799-169075782	HepG2	liver:	n/a	n/a
30	CHD2	chr1:169075917-169076114	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr1:169075547-169075762	K562	blood:	n/a	n/a
32	CHD2	chr1:169074867-169077276	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr1:169074893-169075186	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr1:169074964-169076520	GM12878	blood:	n/a	n/a
35	CREB1	chr1:169074826-169075747	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr1:169074671-169076108	A549	lung:	n/a	n/a
37	CREB1	chr1:169074714-169076584	HepG2	liver:	n/a	n/a
38	CREB1	chr1:169075396-169075747	A549	lung:	n/a	n/a
39	CTBP2	chr1:169074352-169076271	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:169075400-169075550	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr1:169075440-169075590	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr1:169074840-169074990	AG04449	skin:	n/a	n/a
43	CTCF	chr1:169075440-169075590	GM12865	blood:	n/a	n/a
44	CTCF	chr1:169075340-169075490	HCM	heart:	n/a	n/a
45	CTCF	chr1:169074860-169075010	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr1:169075427-169075532	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr1:169074860-169075010	NHEK	skin:	n/a	n/a
48	CTCF	chr1:169075440-169075590	GM12874	blood:	n/a	n/a
49	CTCF	chr1:169075440-169075590	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr1:169075860-169076010	AG04449	skin:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:169076014-169076064	ECC-1	luminal epithelium:	n/a
2	chr1:169076014-169076064	ECC-1	luminal epithelium:	n/a
3	chr1:169076388-169076438	ECC-1	luminal epithelium:	n/a
4	chr1:169076004-169076054	ovcar-3	ovarian:	n/a
5	chr1:169075671-169075721	HEEpiC	esophagus:	n/a
6	chr1:169074934-169074984	ProgFib	skin:	n/a
7	chr1:169076388-169076438	NHBE	bronchial:	n/a
8	chr1:169074934-169074984	HCM	heart:	n/a
9	chr1:169075578-169075628	HRCEpiC	kidney:	n/a
10	chr1:169076004-169076054	PrEC	prostate:	n/a
11	chr1:169075578-169075628	NT2-D1	testis:	n/a
12	chr1:169074608-169074658	GM12892	blood:	n/a
13	chr1:169074934-169074984	K562	blood:	n/a
14	chr1:169075671-169075721	HNPCEpiC	eye:	n/a
15	chr1:169075671-169075721	HAEpiC	amniotic membrane:	n/a
16	chr1:169075593-169075643	HAEpiC	amniotic membrane:	n/a
17	chr1:169075593-169075643	AG09309	skin:	n/a
18	chr1:169075400-169075450	GM12878	blood:	n/a
19	chr1:169075578-169075628	A549	lung:	n/a
20	chr1:169075578-169075628	BE2_C	brain:	n/a
21	chr1:169075578-169075628	HCPEpiC	choroid plexus:	n/a
22	chr1:169076076-169076126	PFSK-1	brain:	n/a
23	chr1:169075578-169075628	HRE	kidney:	n/a
24	chr1:169075671-169075721	LNCaP	prostate:	n/a
25	chr1:169074934-169074984	HNPCEpiC	eye:	n/a
26	chr1:169076014-169076064	AoSMC	blood vessel:	n/a
27	chr1:169074608-169074658	HNPCEpiC	eye:	n/a
28	chr1:169076076-169076126	HRCEpiC	kidney:	n/a
29	chr1:169074934-169074984	HCPEpiC	choroid plexus:	n/a
30	chr1:169076388-169076438	HCT-116	colon:	n/a
31	chr1:169075671-169075721	GM12892	blood:	n/a
32	chr1:169075400-169075450	NHDF-neo	bronchial:	n/a
33	chr1:169075593-169075643	MCF-7	breast:	n/a
34	chr1:169076076-169076126	T-47D	breast:	n/a
35	chr1:169074934-169074984	A549	lung:	n/a
36	chr1:169076076-169076126	Jurkat	blood:	n/a
37	chr1:169076076-169076126	HIPEpiC	eye:	n/a
38	chr1:169076076-169076126	Hepatocyte	liver:	n/a
39	chr1:169075578-169075628	IMR90	lung:	fetal
40	chr1:169075671-169075721	AoSMC	blood vessel:	n/a
41	chr1:169075593-169075643	AG04449	skin:	fetal
42	chr1:169075593-169075643	IMR90	lung:	fetal
43	chr1:169076004-169076054	HepG2	liver:	n/a
44	chr1:169076004-169076054	GM12878	blood:	n/a
45	chr1:169075593-169075643	ProgFib	skin:	n/a
46	chr1:169076004-169076054	AG04449	skin:	fetal
47	chr1:169075578-169075628	AG09319	gingival:	n/a
48	chr1:169075593-169075643	HRPEpiC	eye:	n/a
49	chr1:169076014-169076064	AG09309	skin:	n/a
50	chr1:169075593-169075643	Hepatocyte	liver:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169075323..169076076-chr11:108093263..108093829,2	NB4	blood:
2	chr1:169073988..169075864-chr6:26199270..26200811,2	MCF-7	breast:
3	chr1:169075238..169075823-chr12:49525054..49525857,2	NB4	blood:
4	chr1:169075211..169075952-chrX:110924329..110925163,2	Hela-S3	cervix:
5	chr1:169053133..169065213-chr1:169070028..169077898,15	MCF-7	breast:
6	chr1:169075800..169076779-chr12:53615044..53615856,2	Hela-S3	cervix:
7	chr1:169074990..169075671-chr5:40835294..40835996,2	Hela-S3	cervix:
8	chr1:169073666..169076222-chr8:146016630..146018644,2	MCF-7	breast:
9	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:
10	chr1:169075479..169078672-chr1:169335264..169338570,4	MCF-7	breast:
11	chr1:169075593..169076555-chr12:8179213..8180108,3	Hela-S3	cervix:
12	chr1:168907357..168910687-chr1:169076812..169079423,3	MCF-7	breast:
13	chr1:169075329..169076274-chr13:36919346..36920283,2	NB4	blood:
14	chr1:115300063..115300711-chr1:169075135..169075671,2	Hela-S3	cervix:
15	chr1:169073990..169076920-chr1:169277266..169279793,2	K562	blood:
16	chr1:169075130..169075749-chr17:39845054..39845686,2	NB4	blood:
17	chr1:169075020..169075902-chr19:58873810..58874406,2	HCT-116	colon:
18	chr1:169073561..169077593-chr1:169336088..169341683,7	K562	blood:
19	chr1:169055830..169060702-chr1:169073415..169077056,5	MCF-7	breast:
20	chr1:169075515..169076025-chr7:23221141..23222108,2	Hela-S3	cervix:
21	chr1:169075091..169075831-chr1:174967957..174968644,2	Hela-S3	cervix:
22	chr1:168865232..168870287-chr1:169075405..169077247,5	MCF-7	breast:
23	chr1:169075468..169076086-chr9:34048616..34049143,2	NB4	blood:
24	chr1:169071736..169074539-chr1:169075134..169076733,2	K562	blood:

No data

Variant related genes	Relation type
ATP1B1	TF binding region
ATP1B1	CpG island
ENSG00000269054	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000161016	chromatin interactions
ENSG00000137073	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000268230	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000133104	chromatin interactions
ENSG00000213063	chromatin interactions
ENSG00000117475	chromatin interactions
ENSG00000237707	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000203601	chromatin interactions
ENSG00000149311	chromatin interactions
ENSG00000149308	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000116161	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000101901	chromatin interactions
ENSG00000174586	chromatin interactions
ENSG00000143153	chromatin interactions
ENSG00000229612	chromatin interactions
ENSG00000143156	chromatin interactions
ENSG00000136243	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566824472	chr1:169074357-169074358	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs534056048	chr1:169074359-169074360	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs555783949	chr1:169074397-169074398	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs181540603	chr1:169074410-169074411	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs115270316	chr1:169074424-169074425	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs557322444	chr1:169074432-169074433	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs139827070	chr1:169074487-169074488	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs546046959	chr1:169074510-169074511	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs77937620	chr1:169074531-169074532	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs143836404	chr1:169074543-169074544	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs186014052	chr1:169074640-169074641	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs147257200	chr1:169074684-169074685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs375309821	chr1:169074727-169074728	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs561810301	chr1:169074729-169074730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs1534984	chr1:169074736-169074737	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567667671	chr1:169074778-169074779	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs550737032	chr1:169074823-169074824	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs16861904	chr1:169074854-169074855	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373139549	chr1:169074858-169074859	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs533461334	chr1:169074862-169074863	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs552022628	chr1:169074877-169074878	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs536378791	chr1:169074920-169074921	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs551634932	chr1:169075028-169075029	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs28362571	chr1:169075040-169075041	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566831367	chr1:169075128-169075129	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs369613504	chr1:169075146-169075147	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs28362572	chr1:169075148-169075149	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567742359	chr1:169075152-169075153	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs535682166	chr1:169075157-169075158	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs557210057	chr1:169075159-169075160	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs575484285	chr1:169075186-169075187	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs140598179	chr1:169075222-169075223	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs557993468	chr1:169075223-169075224	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs1200126	chr1:169075244-169075245	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs561472154	chr1:169075260-169075261	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs573384132	chr1:169075306-169075307	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs543866190	chr1:169075309-169075310	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs191910483	chr1:169075313-169075314	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs12751588	chr1:169075336-169075337	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs12751593	chr1:169075348-169075349	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1200127	chr1:169075360-169075361	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs181926860	chr1:169075368-169075369	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs527713796	chr1:169075376-169075377	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs549344069	chr1:169075402-169075403	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs567630840	chr1:169075416-169075417	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
46	rs566843994	chr1:169075419-169075420	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
47	rs28362573	chr1:169075449-169075450	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534284859	chr1:169075491-169075492	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
49	rs370770001	chr1:169075527-169075528	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
50	rs552940632	chr1:169075537-169075538	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169068000-169074600	Enhancers	Fetal Heart	heart
2	chr1:169068800-169074600	Enhancers	Fetal Intestine Large	intestine
3	chr1:169068800-169074600	Enhancers	Fetal Intestine Small	intestine
4	chr1:169069200-169074400	Enhancers	HepG2	liver
5	chr1:169070600-169074400	Enhancers	A549	lung
6	chr1:169070600-169074600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:169071600-169074400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:169071600-169074400	Enhancers	Stomach Mucosa	stomach
9	chr1:169071600-169074600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:169072000-169074400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:169072000-169074400	Weak transcription	Fetal Lung	lung
12	chr1:169072200-169074800	Weak transcription	Right Atrium	heart
13	chr1:169072400-169074400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:169072400-169074600	Weak transcription	Fetal Brain Female	brain
15	chr1:169072400-169075000	Weak transcription	Aorta	Aorta
16	chr1:169072600-169074400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:169072600-169074400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr1:169072600-169074600	Enhancers	Pancreas	Pancrea
19	chr1:169072600-169074800	Enhancers	Brain Substantia Nigra	brain
20	chr1:169072800-169074400	Enhancers	Brain Hippocampus Middle	brain
21	chr1:169072800-169074400	Enhancers	Colonic Mucosa	Colon
22	chr1:169072800-169074400	Enhancers	Fetal Kidney	kidney
23	chr1:169072800-169074400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:169072800-169074600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:169072800-169074800	Enhancers	Esophagus	oesophagus
26	chr1:169073000-169074400	Weak transcription	Brain Angular Gyrus	brain
27	chr1:169073000-169074600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:169073000-169074600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:169073000-169074600	Weak transcription	Left Ventricle	heart
30	chr1:169073200-169074400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:169073200-169074400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:169073200-169074600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:169073200-169074800	Weak transcription	Ovary	ovary
34	chr1:169073200-169074800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:169073200-169075000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:169073400-169074800	Enhancers	Small Intestine	intestine
37	chr1:169073600-169074400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr1:169073600-169074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:169073800-169074400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:169073800-169074600	Enhancers	Gastric	stomach
41	chr1:169074000-169074400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr1:169074000-169074400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr1:169074000-169074400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr1:169074000-169074400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:169074000-169074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:169074000-169074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:169074000-169074400	Active TSS	Brain Germinal Matrix	brain
48	chr1:169074000-169074600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:169074000-169074600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:169074000-169074600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links