Variant report

Variant	esv3358595
Chromosome Location	chr1:113248454-113251002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:643)
CpG islands
(count:610)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:113249921-113250235	K562	blood:	n/a	n/a
2	ARID3A	chr1:113249874-113250202	HepG2	liver:	n/a	n/a
3	ATF2	chr1:113249858-113250295	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr1:113249906-113250314	A549	lung:	n/a	n/a
5	BACH1	chr1:113249971-113250168	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr1:113249821-113250296	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:113249701-113250319	K562	blood:	n/a	chr1:113250114-113250130 chr1:113250183-113250199
8	BHLHE40	chr1:113247299-113248604	K562	blood:	n/a	n/a
9	BHLHE40	chr1:113249607-113250268	GM12878	blood:	n/a	chr1:113250114-113250130 chr1:113250183-113250199 chr1:113249670-113249686
10	BRCA1	chr1:113249950-113250397	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr1:113247699-113248485	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:113249383-113249564	HepG2	liver:	n/a	n/a
13	BRCA1	chr1:113249962-113250291	GM12878	blood:	n/a	n/a
14	BRCA1	chr1:113249948-113250336	HepG2	liver:	n/a	n/a
15	BRCA1	chr1:113249906-113250575	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr1:113249844-113250305	K562	blood:	n/a	n/a
17	CCNT2	chr1:113247194-113248579	K562	blood:	n/a	chr1:113247801-113247810 chr1:113247629-113247638
18	CCNT2	chr1:113249182-113250249	K562	blood:	n/a	chr1:113249358-113249367
19	CEBPB	chr1:113250659-113250710	K562	blood:	n/a	n/a
20	CEBPB	chr1:113249958-113250288	Hela-S3	cervix:	n/a	n/a
21	CEBPD	chr1:113249532-113250179	HepG2	liver:	n/a	n/a
22	CEBPD	chr1:113249635-113249884	HepG2	liver:	n/a	n/a
23	CHD1	chr1:113249481-113249604	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr1:113249418-113249764	GM12878	blood:	n/a	n/a
25	CHD2	chr1:113249353-113249387	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr1:113249269-113249439	HepG2	liver:	n/a	chr1:113249390-113249400
27	CHD2	chr1:113249671-113249690	HepG2	liver:	n/a	n/a
28	CHD2	chr1:113247478-113248457	HepG2	liver:	n/a	n/a
29	CHD2	chr1:113249684-113250324	GM12878	blood:	n/a	chr1:113249970-113249980
30	CHD2	chr1:113249912-113250514	K562	blood:	n/a	chr1:113249970-113249980
31	CHD2	chr1:113249897-113250537	H1-hESC	embryonic stem cell:	n/a	chr1:113249970-113249980
32	CHD2	chr1:113249906-113250397	HepG2	liver:	n/a	chr1:113249970-113249980
33	CHD2	chr1:113249113-113250890	Hela-S3	cervix:	n/a	chr1:113249970-113249980 chr1:113249390-113249400
34	CREB1	chr1:113249495-113250217	A549	lung:	n/a	n/a
35	CTBP2	chr1:113249384-113250389	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:113249975-113250245	Hela-S3	cervix:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
37	CTCF	chr1:113249969-113250242	Kidney_OC	kidney:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
38	CTCF	chr1:113250040-113250190	HAc	cerebellar:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
39	CTCF	chr1:113250040-113250190	HepG2	liver:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
40	CTCF	chr1:113250040-113250190	GM06990	blood:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
41	CTCF	chr1:113249952-113250253	Spleen_OC	spleen:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
42	CTCF	chr1:113250020-113250170	Hela-S3	cervix:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
43	CTCF	chr1:113249980-113250241	ProgFib	skin:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
44	CTCF	chr1:113249940-113250090	GM12872	blood:	n/a	n/a
45	CTCF	chr1:113249972-113250240	MCF-7	breast:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
46	CTCF	chr1:113249970-113250252	MCF-7	breast:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
47	CTCF	chr1:113250020-113250170	AG09309	skin:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
48	CTCF	chr1:113249943-113250205	T-47D	breast:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
49	CTCF	chr1:113250020-113250170	HMEC	breast:	n/a	chr1:113250091-113250109 chr1:113250086-113250107
50	CTCF	chr1:113250400-113250550	AG09309	skin:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113249942-113249992	HRCEpiC	kidney:	n/a
2	chr1:113250088-113250138	HCM	heart:	n/a
3	chr1:113249994-113250044	PANC-1	pancreas:	n/a
4	chr1:113249667-113249717	HEK293	kidney:	embryo
5	chr1:113249974-113250024	MCF-7	breast:	n/a
6	chr1:113249989-113250039	PrEC	prostate:	n/a
7	chr1:113250088-113250138	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:113249942-113249992	SK-N-SH	brain:	n/a
9	chr1:113249942-113249992	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:113249974-113250024	AG09319	gingival:	n/a
11	chr1:113249942-113249992	AG10803	skin:	n/a
12	chr1:113250386-113250436	HRPEpiC	eye:	n/a
13	chr1:113249654-113249704	BJ	skin:	n/a
14	chr1:113249989-113250039	MCF10A-Er-Src	breast:	n/a
15	chr1:113249942-113249992	IMR90	lung:	fetal
16	chr1:113250120-113250170	BE2_C	brain:	n/a
17	chr1:113249667-113249717	HRPEpiC	eye:	n/a
18	chr1:113249654-113249704	HCF	heart:	n/a
19	chr1:113250448-113250498	NHDF-neo	bronchial:	n/a
20	chr1:113250448-113250498	AG04449	skin:	fetal
21	chr1:113249974-113250024	GM06990	blood:	n/a
22	chr1:113249974-113250024	BE2_C	brain:	n/a
23	chr1:113249994-113250044	AG09309	skin:	n/a
24	chr1:113249989-113250039	A549	lung:	n/a
25	chr1:113250088-113250138	HepG2	liver:	n/a
26	chr1:113250088-113250138	AG09309	skin:	n/a
27	chr1:113250448-113250498	HL-60	blood:	n/a
28	chr1:113250448-113250498	AG09319	gingival:	n/a
29	chr1:113250088-113250138	Hepatocyte	liver:	n/a
30	chr1:113250386-113250436	H1-hESC	embryonic stem cell:	embryo
31	chr1:113249667-113249717	AoSMC	blood vessel:	n/a
32	chr1:113249994-113250044	AG09319	gingival:	n/a
33	chr1:113250386-113250436	Hela-S3	cervix:	n/a
34	chr1:113250120-113250170	HCT-116	colon:	n/a
35	chr1:113250088-113250138	NT2-D1	testis:	n/a
36	chr1:113249654-113249704	GM12892	blood:	n/a
37	chr1:113250120-113250170	NH-A	brain:	n/a
38	chr1:113250088-113250138	NHDF-neo	bronchial:	n/a
39	chr1:113249654-113249704	BE2_C	brain:	n/a
40	chr1:113249654-113249704	PANC-1	pancreas:	n/a
41	chr1:113249994-113250044	RPTEC	kidney:	n/a
42	chr1:113250088-113250138	MCF-7	breast:	n/a
43	chr1:113249942-113249992	SKMC	muscle:	n/a
44	chr1:113249974-113250024	HepG2	liver:	n/a
45	chr1:113249989-113250039	ECC-1	luminal epithelium:	n/a
46	chr1:113249942-113249992	AG04449	skin:	fetal
47	chr1:113250088-113250138	LNCaP	prostate:	n/a
48	chr1:113250120-113250170	NT2-D1	testis:	n/a
49	chr1:113250088-113250138	GM19239	blood:	n/a
50	chr1:113250088-113250138	RPTEC	kidney:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112933576..112940137-chr1:113246857..113251993,14	MCF-7	breast:
2	chr1:113214002..113222947-chr1:113236890..113251579,47	MCF-7	breast:
3	chr1:113159779..113171222-chr1:113238237..113251191,41	K562	blood:
4	chr1:113214866..113222565-chr1:113237012..113253952,54	K562	blood:
5	chr1:112938761..112941761-chr1:113247568..113249753,3	MCF-7	breast:
6	chr1:113246571..113250786-chr1:113261233..113263716,3	K562	blood:
7	chr1:113167944..113171007-chr1:113245720..113249508,3	MCF-7	breast:
8	chr1:113249874..113250660-chr8:22298604..22299508,2	Hela-S3	cervix:
9	chr1:113193696..113198407-chr1:113243250..113250056,8	K562	blood:
10	chr1:113008643..113012570-chr1:113247176..113250622,4	MCF-7	breast:
11	chr1:113247889..113248665-chr2:21021883..21022878,2	Hela-S3	cervix:
12	chr1:113216344..113217082-chr1:113249756..113250432,2	MCF-7	breast:
13	chr1:113160834..113162243-chr1:113249295..113250445,3	MCF-7	breast:
14	chr1:113160723..113165170-chr1:113245654..113250392,12	K562	blood:
15	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:
16	chr1:113167976..113172227-chr1:113246480..113250465,5	K562	blood:
17	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
18	chr1:113249608..113250370-chr1:167522484..167523006,2	HCT-116	colon:
19	chr1:113216859..113217827-chr1:113249275..113250031,2	MCF-7	breast:
20	chr1:113248698..113251078-chr1:113932422..113935147,2	MCF-7	breast:
21	chr1:113214590..113222957-chr1:113244863..113253590,39	MCF-7	breast:
22	chr1:113250102..113252042-chr1:113500329..113503036,2	K562	blood:
23	chr1:112936910..112939069-chr1:113249610..113251300,2	K562	blood:
24	chr1:113193696..113195497-chr1:113246337..113249077,2	K562	blood:
25	chr1:113157493..113160120-chr1:113249713..113252199,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST7L-6	chr1:113249700-113249749	NONHSAT005278

No data

Variant related genes	Relation type
RHOC	TF binding region
RHOC	CpG island
ENSG00000116489	chromatin interactions
ENSG00000155363	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000143162	chromatin interactions
ENSG00000120910	chromatin interactions
ENSG00000238975	chromatin interactions
ENSG00000118961	chromatin interactions
ENSG00000184599	chromatin interactions
ENSG00000081026	chromatin interactions
ENSG00000134245	chromatin interactions
ENSG00000235299	chromatin interactions
ENSG00000143079	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144900302	chr1:113248471-113248472	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs115298625	chr1:113248507-113248508	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs190798471	chr1:113248539-113248540	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs573909501	chr1:113248735-113248736	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs182123473	chr1:113248759-113248760	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs12750077	chr1:113248760-113248761	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs12144044	chr1:113248791-113248792	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572808783	chr1:113248807-113248808	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs545088223	chr1:113248816-113248817	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs565019022	chr1:113248954-113248955	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs533556541	chr1:113248966-113248967	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs544062862	chr1:113248974-113248975	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs140664024	chr1:113248985-113248986	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs563947985	chr1:113248995-113248996	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs545011105	chr1:113249004-113249005	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs552739244	chr1:113249012-113249013	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs549069203	chr1:113249021-113249022	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs564679027	chr1:113249032-113249033	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs533417679	chr1:113249033-113249034	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs538680398	chr1:113249053-113249054	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs566341483	chr1:113249075-113249076	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs533807270	chr1:113249077-113249078	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs370899656	chr1:113249086-113249087	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs77880585	chr1:113249092-113249093	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs78636879	chr1:113249094-113249095	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs570310378	chr1:113249104-113249105	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs71084489	chr1:113249105-113249106	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs370047091	chr1:113249112-113249113	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs374196383	chr1:113249114-113249115	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs569791625	chr1:113249116-113249117	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs555982263	chr1:113249120-113249121	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs377215235	chr1:113249130-113249131	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs57078670	chr1:113249133-113249134	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs112293823	chr1:113249136-113249137	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs528523716	chr1:113249137-113249138	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs66799001	chr1:113249139-113249140	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs147567103	chr1:113249176-113249177	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs189119325	chr1:113249220-113249221	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs373774387	chr1:113249241-113249242	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs536830158	chr1:113249260-113249261	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs556715273	chr1:113249265-113249266	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs550384716	chr1:113249395-113249396	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs3806443	chr1:113249486-113249487	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs3806442	chr1:113249504-113249505	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552645369	chr1:113249518-113249519	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs3806441	chr1:113249524-113249525	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs3806440	chr1:113249555-113249556	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs558669223	chr1:113249580-113249581	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs575437776	chr1:113249611-113249612	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs544002885	chr1:113249632-113249633	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113241600-113249200	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:113246400-113249000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:113246600-113249000	Flanking Active TSS	Hela-S3	cervix
4	chr1:113246800-113248600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:113246800-113248600	Flanking Active TSS	HMEC	breast
6	chr1:113246800-113248800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:113246800-113248800	Flanking Active TSS	Rectal Smooth Muscle	rectum
8	chr1:113246800-113249000	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr1:113246800-113249000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr1:113246800-113249000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:113246800-113249600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:113246800-113249600	Flanking Active TSS	Dnd41	blood
13	chr1:113247000-113248600	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr1:113247000-113248600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:113247000-113248800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:113247000-113248800	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr1:113247000-113248800	Flanking Active TSS	Left Ventricle	heart
18	chr1:113247000-113248800	Flanking Active TSS	Right Ventricle	heart
19	chr1:113247000-113248800	Flanking Active TSS	HUVEC	blood vessel
20	chr1:113247000-113248800	Flanking Active TSS	NH-A	brain
21	chr1:113247000-113249000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:113247000-113249000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr1:113247000-113249000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr1:113247000-113249000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr1:113247000-113249000	Flanking Active TSS	Fetal Lung	lung
26	chr1:113247000-113249000	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr1:113247000-113249000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:113247000-113249000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr1:113247000-113249600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:113247200-113248600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr1:113247200-113248800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:113247200-113248800	Flanking Active TSS	Osteobl	bone
33	chr1:113247200-113249000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:113247200-113249000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:113247200-113249000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:113247200-113249000	Flanking Active TSS	K562	blood
37	chr1:113247200-113249400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:113247200-113249400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:113247200-113250400	Active TSS	Aorta	Aorta
40	chr1:113247400-113248800	Flanking Active TSS	Fetal Stomach	stomach
41	chr1:113247400-113248800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:113247400-113249000	Flanking Active TSS	Liver	Liver
43	chr1:113247400-113249000	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr1:113247400-113249000	Flanking Active TSS	Placenta	Placenta
45	chr1:113247400-113249000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr1:113247400-113249600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr1:113247400-113250200	Active TSS	Psoas Muscle	Psoas
48	chr1:113247400-113250400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:113247400-113250400	Active TSS	Ovary	ovary
50	chr1:113247400-113250400	Active TSS	Right Atrium	heart

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