Variant report

Variant	esv1821128
Chromosome Location	chr7:6656753-6698297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1204)
CpG islands
(count:2138)
Chromatin interactive
region (count:90)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6680032-6680221	K562	blood:	n/a	n/a
2	ATF2	chr7:6676670-6676974	GM12878	blood:	n/a	n/a
3	ATF3	chr7:6676764-6677038	K562	blood:	n/a	n/a
4	ATF3	chr7:6676729-6677016	HepG2	liver:	n/a	n/a
5	ATF3	chr7:6679904-6680092	K562	blood:	n/a	n/a
6	ATF3	chr7:6676663-6677108	GM12878	blood:	n/a	n/a
7	ATF3	chr7:6676775-6677020	GM12878	blood:	n/a	n/a
8	BACH1	chr7:6677373-6677430	K562	blood:	n/a	n/a
9	BACH1	chr7:6676690-6676978	K562	blood:	n/a	n/a
10	BACH1	chr7:6676413-6677735	H1-hESC	embryonic stem cell:	n/a	n/a
11	BATF	chr7:6679547-6679737	GM12878	blood:	n/a	n/a
12	BATF	chr7:6659295-6659530	GM12878	blood:	n/a	n/a
13	BCL3	chr7:6693791-6694049	GM12878	blood:	n/a	n/a
14	BCL3	chr7:6676620-6677051	GM12878	blood:	n/a	chr7:6676897-6676906
15	BCL3	chr7:6693271-6693492	GM12878	blood:	n/a	n/a
16	BCL3	chr7:6662073-6662402	GM12878	blood:	n/a	n/a
17	BCL3	chr7:6662021-6662558	GM12878	blood:	n/a	chr7:6662039-6662052 chr7:6662045-6662058 chr7:6662050-6662059 chr7:6662047-6662056 chr7:6662040-6662053 chr7:6662044-6662053 chr7:6662036-6662049
18	BCLAF1	chr7:6676612-6677075	GM12878	blood:	n/a	chr7:6676897-6676906
19	BHLHE40	chr7:6685656-6685802	K562	blood:	n/a	n/a
20	BHLHE40	chr7:6676643-6677601	GM12878	blood:	n/a	chr7:6677407-6677423
21	BHLHE40	chr7:6676405-6676427	K562	blood:	n/a	n/a
22	BHLHE40	chr7:6676722-6677023	K562	blood:	n/a	n/a
23	BHLHE40	chr7:6679828-6680319	K562	blood:	n/a	n/a
24	BHLHE40	chr7:6677264-6677647	K562	blood:	n/a	chr7:6677407-6677423
25	BHLHE40	chr7:6663730-6663805	GM12878	blood:	n/a	n/a
26	BHLHE40	chr7:6679587-6679733	GM12878	blood:	n/a	n/a
27	CBX3	chr7:6679776-6680216	K562	blood:	n/a	n/a
28	CBX3	chr7:6679531-6680589	K562	blood:	n/a	n/a
29	CBX3	chr7:6677286-6677693	K562	blood:	n/a	n/a
30	CBX3	chr7:6676642-6676930	K562	blood:	n/a	n/a
31	CCNT2	chr7:6676308-6677623	K562	blood:	n/a	n/a
32	CCNT2	chr7:6694042-6694139	K562	blood:	n/a	n/a
33	CEBPB	chr7:6658239-6658266	A549	lung:	n/a	n/a
34	CEBPB	chr7:6659050-6659078	A549	lung:	n/a	n/a
35	CEBPB	chr7:6661220-6661668	HepG2	liver:	n/a	n/a
36	CEBPB	chr7:6679441-6679533	K562	blood:	n/a	n/a
37	CEBPB	chr7:6679380-6679580	HepG2	liver:	n/a	n/a
38	CEBPB	chr7:6660916-6661830	MCF-7	breast:	n/a	n/a
39	CEBPB	chr7:6679421-6679645	A549	lung:	n/a	n/a
40	CEBPB	chr7:6659301-6659458	A549	lung:	n/a	n/a
41	CEBPB	chr7:6679964-6680434	K562	blood:	n/a	n/a
42	CEBPB	chr7:6679892-6680277	K562	blood:	n/a	n/a
43	CEBPB	chr7:6661168-6661656	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr7:6661397-6661453	A549	lung:	n/a	n/a
45	CEBPB	chr7:6661217-6661676	HepG2	liver:	n/a	n/a
46	CEBPD	chr7:6676684-6677078	K562	blood:	n/a	n/a
47	CEBPD	chr7:6676750-6677014	HepG2	liver:	n/a	n/a
48	CEBPD	chr7:6676694-6677135	HepG2	liver:	n/a	n/a
49	CHD1	chr7:6677295-6677418	GM12878	blood:	n/a	n/a
50	CHD1	chr7:6677773-6677776	GM12878	blood:	n/a	n/a

(count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6676001-6676051	HRE	kidney:	n/a
2	chr7:6691949-6691999	HepG2	liver:	n/a
3	chr7:6676630-6676680	H1-hESC	embryonic stem cell:	embryo
4	chr7:6676001-6676051	HRE	kidney:	n/a
5	chr7:6691949-6691999	HepG2	liver:	n/a
6	chr7:6676630-6676680	H1-hESC	embryonic stem cell:	embryo
7	chr7:6689218-6689268	SAEC	small airway:	n/a
8	chr7:6682784-6682834	RPTEC	kidney:	n/a
9	chr7:6662685-6662735	SKMC	muscle:	n/a
10	chr7:6676001-6676051	MCF10A-Er-Src	breast:	n/a
11	chr7:6661804-6661854	K562	blood:	n/a
12	chr7:6693838-6693888	HCT-116	colon:	n/a
13	chr7:6694735-6694785	AG10803	skin:	n/a
14	chr7:6680085-6680135	MCF10A-Er-Src	breast:	n/a
15	chr7:6694735-6694785	AG09309	skin:	n/a
16	chr7:6676001-6676051	NH-A	brain:	n/a
17	chr7:6666368-6666418	PFSK-1	brain:	n/a
18	chr7:6676784-6676834	NHBE	bronchial:	n/a
19	chr7:6676630-6676680	HRPEpiC	eye:	n/a
20	chr7:6676832-6676882	AG09319	gingival:	n/a
21	chr7:6677494-6677544	RPTEC	kidney:	n/a
22	chr7:6666368-6666418	IMR90	lung:	fetal
23	chr7:6682784-6682834	GM06990	blood:	n/a
24	chr7:6660095-6660145	HL-60	blood:	n/a
25	chr7:6676784-6676834	GM19239	blood:	n/a
26	chr7:6677606-6677656	CMK	blood:	n/a
27	chr7:6677494-6677544	ProgFib	skin:	n/a
28	chr7:6694735-6694785	T-47D	breast:	n/a
29	chr7:6694373-6694423	IMR90	lung:	fetal
30	chr7:6694735-6694785	HMEC	breast:	n/a
31	chr7:6695092-6695142	NB4	blood:	n/a
32	chr7:6662789-6662839	A549	lung:	n/a
33	chr7:6676001-6676051	Jurkat	blood:	n/a
34	chr7:6659785-6659835	BE2_C	brain:	n/a
35	chr7:6661876-6661926	NB4	blood:	n/a
36	chr7:6690313-6690363	LNCaP	prostate:	n/a
37	chr7:6695121-6695171	SK-N-SH_RA	brain:	n/a
38	chr7:6662685-6662735	Hela-S3	cervix:	n/a
39	chr7:6662789-6662839	MCF10A-Er-Src	breast:	n/a
40	chr7:6692445-6692495	MCF10A-Er-Src	breast:	n/a
41	chr7:6661876-6661926	HCM	heart:	n/a
42	chr7:6666368-6666418	K562	blood:	n/a
43	chr7:6694735-6694785	RPTEC	kidney:	n/a
44	chr7:6676630-6676680	HPAEpiC	pulmonary alveolar:	n/a
45	chr7:6676630-6676680	ECC-1	luminal epithelium:	n/a
46	chr7:6691949-6691999	AG04449	skin:	fetal
47	chr7:6676168-6676218	ovcar-3	ovarian:	n/a
48	chr7:6661804-6661854	Caco-2	colon:	n/a
49	chr7:6676784-6676834	ECC-1	luminal epithelium:	n/a
50	chr7:6680085-6680135	Caco-2	colon:	n/a

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:6615800..6617832-chr7:6677563..6680150,2	MCF-7	breast:
2	chr7:6661901..6664151-chr7:6670252..6671986,3	MCF-7	breast:
3	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
4	chr7:6674043..6676883-chr7:6677067..6680291,5	K562	blood:
5	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
6	chr7:6656631..6659250-chr7:6667009..6671468,4	MCF-7	breast:
7	chr7:6661077..6664696-chr7:6667812..6669863,3	MCF-7	breast:
8	chr7:6675529..6677980-chr7:6768487..6770695,2	K562	blood:
9	chr7:6659549..6661363-chr7:6670073..6672008,2	K562	blood:
10	chr7:6660007..6662837-chr7:6675219..6677958,3	K562	blood:
11	chr7:6659409..6665689-chr7:6670317..6679304,11	MCF-7	breast:
12	chr7:6628457..6631267-chr7:6660090..6662894,2	K562	blood:
13	chr7:6680149..6683134-chr7:6689202..6690780,2	K562	blood:
14	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
15	chr7:6694849..6698438-chr7:6699530..6702045,3	K562	blood:
16	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
17	chr7:6521808..6524278-chr7:6666674..6668575,2	K562	blood:
18	chr7:6692466..6696366-chr7:6696714..6698992,3	MCF-7	breast:
19	chr7:6683480..6686518-chr7:6689197..6691289,3	MCF-7	breast:
20	chr7:6541950..6543739-chr7:6677071..6679453,2	K562	blood:
21	chr7:6661901..6664151-chr7:6670252..6671986,3	MCF-7	breast:
22	chr7:6675838..6678415-chr7:6696567..6699140,4	MCF-7	breast:
23	chr7:6685863..6688294-chr7:6688920..6690681,2	MCF-7	breast:
24	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
25	chr7:6659549..6661363-chr7:6670073..6672008,2	K562	blood:
26	chr7:6677446..6679002-chr7:6745294..6747715,2	K562	blood:
27	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
28	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
29	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
30	chr7:6680998..6682837-chr7:6692889..6695214,2	MCF-7	breast:
31	chr7:6652934..6655791-chr7:6675915..6678392,2	MCF-7	breast:
32	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
33	chr7:6660564..6662217-chr7:6683757..6686361,2	MCF-7	breast:
34	chr7:6683480..6686518-chr7:6689197..6691289,3	MCF-7	breast:
35	chr7:6675427..6681659-chr7:6684293..6688490,10	MCF-7	breast:
36	chr7:6626891..6631453-chr7:6677284..6679167,4	K562	blood:
37	chr7:6668744..6673941-chr7:6674951..6679228,16	MCF-7	breast:
38	chr7:6629079..6630175-chr7:6676992..6678000,4	MCF-7	breast:
39	chr7:6688371..6689911-chr7:6696909..6698726,2	K562	blood:
40	chr7:6669484..6671433-chr7:6744514..6747927,3	MCF-7	breast:
41	chr7:6669640..6671625-chr7:6687041..6689974,2	MCF-7	breast:
42	chr7:6661077..6664696-chr7:6667812..6669863,3	MCF-7	breast:
43	chr7:6689485..6692014-chr7:6722455..6725146,3	MCF-7	breast:
44	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
45	chr7:6682551..6684434-chr7:6694308..6696080,2	MCF-7	breast:
46	chr7:6681267..6684799-chr7:6697447..6700610,3	MCF-7	breast:
47	chr7:6674043..6676883-chr7:6677067..6680291,5	K562	blood:
48	chr7:6650218..6651893-chr7:6687593..6690254,2	K562	blood:
49	chr7:6637338..6640081-chr7:6675258..6678566,5	MCF-7	breast:
50	chr7:6615703..6619364-chr7:6676501..6679314,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF853-2	chr7:6670130-6670199	ucscGeneNc_uc003sqr_1
2	lnc-ZNF853-2	chr7:6679361-6680635	ucscGeneNc_uc003sqr_1
3	lnc-ZNF853-2	chr7:6671200-6671264	ucscGeneNc_uc003sqr_1
4	lnc-AC073343.1-2	chr7:6694495-6696063	ENSG00000260054.1

No data

Variant related genes	Relation type
ZNF316	TF binding region
ENSG00000260054	TF binding region
ZNF316	CpG island
ENSG00000260054	CpG island
ENSG00000269781	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000077150	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000146576	chromatin interactions
ENSG00000236609	chromatin interactions
ENSG00000187953	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000260054	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000215045	chromatin interactions
ENSG00000136247	chromatin interactions

Extended variants
information (count: 1891 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1891 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10270077	chr7:6656753-6656754	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2708613	chr7:6656763-6656764	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557184288	chr7:6656765-6656766	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545435774	chr7:6656769-6656770	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564345906	chr7:6656795-6656796	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192615351	chr7:6656813-6656814	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372481337	chr7:6656818-6656819	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2243563	chr7:6656830-6656831	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561723875	chr7:6656836-6656837	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529113777	chr7:6656846-6656847	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs184899761	chr7:6656857-6656858	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565451337	chr7:6656871-6656872	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368198120	chr7:6656883-6656884	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1806552	chr7:6656897-6656898	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371760729	chr7:6656922-6656923	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550963571	chr7:6656923-6656924	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375985939	chr7:6656928-6656929	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369026992	chr7:6656946-6656947	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569972290	chr7:6656949-6656950	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140522947	chr7:6656966-6656967	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572353453	chr7:6656973-6656974	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs556075149	chr7:6656984-6656985	Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114415314	chr7:6657012-6657013	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34431633	chr7:6657026-6657027	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147059512	chr7:6657032-6657033	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553471200	chr7:6657049-6657050	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138144755	chr7:6657106-6657107	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545376319	chr7:6657118-6657119	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs114963541	chr7:6657124-6657125	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373335015	chr7:6657131-6657132	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543329574	chr7:6657160-6657161	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188215137	chr7:6657287-6657288	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529043928	chr7:6657292-6657293	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547210279	chr7:6657297-6657298	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558975045	chr7:6657315-6657316	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556383179	chr7:6657360-6657361	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532871116	chr7:6657368-6657369	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551098737	chr7:6657420-6657421	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545782435	chr7:6657431-6657432	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569303604	chr7:6657432-6657433	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79029245	chr7:6657486-6657487	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192082387	chr7:6657611-6657612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553721224	chr7:6657640-6657641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534879220	chr7:6657652-6657653	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143605778	chr7:6657683-6657684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370827836	chr7:6657699-6657700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571730618	chr7:6657704-6657705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539125594	chr7:6657725-6657726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147223184	chr7:6657814-6657815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184432063	chr7:6657863-6657864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1705 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6655400-6656800	Enhancers	Fetal Brain Male	brain
2	chr7:6655800-6659400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:6655800-6663200	Weak transcription	Liver	Liver
4	chr7:6656000-6656800	Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr7:6656000-6656800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:6656000-6657200	Enhancers	Lung	lung
7	chr7:6656000-6657200	Enhancers	Spleen	Spleen
8	chr7:6656000-6659000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:6656000-6659200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:6656000-6659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:6656000-6659800	Weak transcription	Primary B cells from cord blood	blood
12	chr7:6656000-6659800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:6656000-6660600	Weak transcription	Aorta	Aorta
14	chr7:6656000-6660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:6656000-6660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:6656000-6661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:6656000-6661000	Weak transcription	Esophagus	oesophagus
18	chr7:6656000-6661000	Weak transcription	Left Ventricle	heart
19	chr7:6656000-6663200	Weak transcription	Fetal Kidney	kidney
20	chr7:6656000-6666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:6656000-6676000	Weak transcription	Psoas Muscle	Psoas
22	chr7:6656200-6656800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:6656200-6656800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:6656200-6656800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:6656200-6656800	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:6656200-6656800	Enhancers	Pancreas	Pancrea
27	chr7:6656200-6656800	Active TSS	HepG2	liver
28	chr7:6656200-6657000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:6656200-6657000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:6656200-6657000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:6656200-6657000	Enhancers	Brain Germinal Matrix	brain
32	chr7:6656200-6657000	Enhancers	Brain Hippocampus Middle	brain
33	chr7:6656200-6657000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:6656200-6657000	Enhancers	Fetal Muscle Trunk	muscle
35	chr7:6656200-6657000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr7:6656200-6657000	Weak transcription	Thymus	Thymus
37	chr7:6656200-6657200	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:6656200-6657400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:6656200-6659200	Weak transcription	Primary T cells from cord blood	blood
40	chr7:6656200-6659800	Weak transcription	Brain Anterior Caudate	brain
41	chr7:6656200-6660600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:6656200-6660600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:6656200-6660600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:6656200-6660600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:6656200-6660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:6656200-6660800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:6656200-6660800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:6656200-6660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:6656200-6660800	Weak transcription	Fetal Intestine Large	intestine
50	chr7:6656200-6661000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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