Variant report

Variant	nsv606005
Chromosome Location	chr7:6656897-6698905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1251)
CpG islands
(count:2136)
Chromatin interactive
region (count:92)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1251 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

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	chr7:6679904-6680092	K562	blood:	n/a	n/a
4	ATF3	chr7:6676764-6677038	K562	blood:	n/a	n/a
5	ATF3	chr7:6676663-6677108	GM12878	blood:	n/a	n/a
6	ATF3	chr7:6676729-6677016	HepG2	liver:	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	chr7:6676413-6677735	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:6676690-6676978	K562	blood:	n/a	n/a
11	BATF	chr7:6659295-6659530	GM12878	blood:	n/a	n/a
12	BATF	chr7:6679547-6679737	GM12878	blood:	n/a	n/a
13	BCL3	chr7:6676620-6677051	GM12878	blood:	n/a	chr7:6676897-6676906
14	BCL3	chr7:6662073-6662402	GM12878	blood:	n/a	n/a
15	BCL3	chr7:6693791-6694049	GM12878	blood:	n/a	n/a
16	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
17	BCL3	chr7:6693271-6693492	GM12878	blood:	n/a	n/a
18	BCLAF1	chr7:6676612-6677075	GM12878	blood:	n/a	chr7:6676897-6676906
19	BHLHE40	chr7:6676722-6677023	K562	blood:	n/a	n/a
20	BHLHE40	chr7:6679828-6680319	K562	blood:	n/a	n/a
21	BHLHE40	chr7:6676643-6677601	GM12878	blood:	n/a	chr7:6677407-6677423
22	BHLHE40	chr7:6679587-6679733	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:6698832-6699007	K562	blood:	n/a	n/a
24	BHLHE40	chr7:6685656-6685802	K562	blood:	n/a	n/a
25	BHLHE40	chr7:6676405-6676427	K562	blood:	n/a	n/a
26	BHLHE40	chr7:6677264-6677647	K562	blood:	n/a	chr7:6677407-6677423
27	BHLHE40	chr7:6663730-6663805	GM12878	blood:	n/a	n/a
28	BHLHE40	chr7:6698826-6699225	HepG2	liver:	n/a	n/a
29	BRCA1	chr7:6698867-6699045	H1-hESC	embryonic stem cell:	n/a	n/a
30	CBX3	chr7:6679776-6680216	K562	blood:	n/a	n/a
31	CBX3	chr7:6676642-6676930	K562	blood:	n/a	n/a
32	CBX3	chr7:6677286-6677693	K562	blood:	n/a	n/a
33	CBX3	chr7:6679531-6680589	K562	blood:	n/a	n/a
34	CCNT2	chr7:6694042-6694139	K562	blood:	n/a	n/a
35	CCNT2	chr7:6676308-6677623	K562	blood:	n/a	n/a
36	CEBPB	chr7:6661217-6661676	HepG2	liver:	n/a	n/a
37	CEBPB	chr7:6679964-6680434	K562	blood:	n/a	n/a
38	CEBPB	chr7:6659050-6659078	A549	lung:	n/a	n/a
39	CEBPB	chr7:6661168-6661656	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr7:6659301-6659458	A549	lung:	n/a	n/a
41	CEBPB	chr7:6679441-6679533	K562	blood:	n/a	n/a
42	CEBPB	chr7:6679380-6679580	HepG2	liver:	n/a	n/a
43	CEBPB	chr7:6698891-6699407	HepG2	liver:	n/a	chr7:6699226-6699237
44	CEBPB	chr7:6661397-6661453	A549	lung:	n/a	n/a
45	CEBPB	chr7:6660916-6661830	MCF-7	breast:	n/a	n/a
46	CEBPB	chr7:6679421-6679645	A549	lung:	n/a	n/a
47	CEBPB	chr7:6679892-6680277	K562	blood:	n/a	n/a
48	CEBPB	chr7:6658239-6658266	A549	lung:	n/a	n/a
49	CEBPB	chr7:6661220-6661668	HepG2	liver:	n/a	n/a
50	CEBPD	chr7:6676684-6677078	K562	blood:	n/a	n/a

(count:2136 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6677433-6677483	HRE	kidney:	n/a
2	chr7:6677433-6677483	HRE	kidney:	n/a
3	chr7:6694978-6695028	HepG2	liver:	n/a
4	chr7:6696120-6696170	NH-A	brain:	n/a
5	chr7:6660095-6660145	AG09319	gingival:	n/a
6	chr7:6662329-6662379	ProgFib	skin:	n/a
7	chr7:6693030-6693080	PFSK-1	brain:	n/a
8	chr7:6680085-6680135	GM19239	blood:	n/a
9	chr7:6694373-6694423	HIPEpiC	eye:	n/a
10	chr7:6694735-6694785	ECC-1	luminal epithelium:	n/a
11	chr7:6666368-6666418	AG10803	skin:	n/a
12	chr7:6693334-6693384	HIPEpiC	eye:	n/a
13	chr7:6677265-6677315	BE2_C	brain:	n/a
14	chr7:6682784-6682834	PFSK-1	brain:	n/a
15	chr7:6674031-6674081	AoSMC	blood vessel:	n/a
16	chr7:6695092-6695142	GM12891	blood:	n/a
17	chr7:6696120-6696170	HUVEC	blood vessel:	n/a
18	chr7:6682784-6682834	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:6695092-6695142	HMEC	breast:	n/a
20	chr7:6676832-6676882	NB4	blood:	n/a
21	chr7:6666368-6666418	HAEpiC	amniotic membrane:	n/a
22	chr7:6676630-6676680	H1-hESC	embryonic stem cell:	embryo
23	chr7:6662329-6662379	SK-N-MC	brain:	n/a
24	chr7:6676001-6676051	NH-A	brain:	n/a
25	chr7:6676832-6676882	HCF	heart:	n/a
26	chr7:6659785-6659835	HL-60	blood:	n/a
27	chr7:6676168-6676218	AG09319	gingival:	n/a
28	chr7:6682784-6682834	HAEpiC	amniotic membrane:	n/a
29	chr7:6693334-6693384	PANC-1	pancreas:	n/a
30	chr7:6693838-6693888	PFSK-1	brain:	n/a
31	chr7:6677265-6677315	LNCaP	prostate:	n/a
32	chr7:6676784-6676834	SK-N-MC	brain:	n/a
33	chr7:6695092-6695142	AG09319	gingival:	n/a
34	chr7:6662685-6662735	Hepatocyte	liver:	n/a
35	chr7:6693838-6693888	HRCEpiC	kidney:	n/a
36	chr7:6694735-6694785	PANC-1	pancreas:	n/a
37	chr7:6680085-6680135	K562	blood:	n/a
38	chr7:6676784-6676834	HRPEpiC	eye:	n/a
39	chr7:6693334-6693384	MCF-7	breast:	n/a
40	chr7:6662685-6662735	U87	brain:	n/a
41	chr7:6661804-6661854	HUVEC	blood vessel:	n/a
42	chr7:6676832-6676882	ECC-1	luminal epithelium:	n/a
43	chr7:6692445-6692495	HRE	kidney:	n/a
44	chr7:6661876-6661926	SK-N-SH_RA	brain:	n/a
45	chr7:6694735-6694785	HPAEpiC	pulmonary alveolar:	n/a
46	chr7:6694978-6695028	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:6695092-6695142	NB4	blood:	n/a
48	chr7:6677265-6677315	MCF-7	breast:	n/a
49	chr7:6674031-6674081	HepG2	liver:	n/a
50	chr7:6661876-6661926	NHBE	bronchial:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
2	chr17:41465185..41465700-chr7:6676633..6677215,2	Hela-S3	cervix:
3	chr7:6656631..6659250-chr7:6667009..6671468,4	MCF-7	breast:
4	chr7:6676518..6678447-chr7:6694438..6696514,2	MCF-7	breast:
5	chr7:6677446..6679002-chr7:6745294..6747715,2	K562	blood:
6	chr10:104155341..104155841-chr7:6676464..6677005,2	Hela-S3	cervix:
7	chr7:6680998..6682837-chr7:6692889..6695214,2	MCF-7	breast:
8	chr7:6679487..6682483-chr7:6695124..6696654,2	MCF-7	breast:
9	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
10	chr7:6652934..6655791-chr7:6675915..6678392,2	MCF-7	breast:
11	chr7:6660007..6662837-chr7:6675219..6677958,3	K562	blood:
12	chr7:6685863..6688294-chr7:6688920..6690681,2	MCF-7	breast:
13	chr7:6652722..6654943-chr7:6655850..6658545,2	K562	blood:
14	chr17:57920745..57921576-chr7:6676970..6677850,2	HCT-116	colon:
15	chr7:6692466..6696366-chr7:6696714..6698992,3	MCF-7	breast:
16	chr7:6674043..6676883-chr7:6677067..6680291,5	K562	blood:
17	chr7:6688371..6689911-chr7:6696909..6698726,2	K562	blood:
18	chr7:6661077..6664696-chr7:6667812..6669863,3	MCF-7	breast:
19	chr7:6645718..6648142-chr7:6667020..6668593,2	K562	blood:
20	chr7:6669484..6671433-chr7:6744514..6747927,3	MCF-7	breast:
21	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
22	chr7:6615703..6619364-chr7:6676501..6679314,4	K562	blood:
23	chr7:6675838..6678415-chr7:6696567..6699140,4	MCF-7	breast:
24	chr7:6637338..6640081-chr7:6675258..6678566,5	MCF-7	breast:
25	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
26	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
27	chr7:6696313..6698315-chr7:6745284..6746997,2	K562	blood:
28	chr7:6521808..6524278-chr7:6666674..6668575,2	K562	blood:
29	chr7:6687023..6688997-chr7:6745010..6747605,2	K562	blood:
30	chr7:6656839..6659879-chr7:6661538..6663786,3	K562	blood:
31	chr7:6654514..6658630-chr7:6675114..6678876,5	MCF-7	breast:
32	chr7:6660564..6662217-chr7:6683757..6686361,2	MCF-7	breast:
33	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
34	chr7:6669640..6671625-chr7:6687041..6689974,2	MCF-7	breast:
35	chr7:6661901..6664151-chr7:6670252..6671986,3	MCF-7	breast:
36	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
37	chr7:6657590..6663602-chr7:6673662..6680073,8	MCF-7	breast:
38	chr7:6698325..6700210-chr7:6703299..6704869,2	MCF-7	breast:
39	chr7:6541950..6543739-chr7:6677071..6679453,2	K562	blood:
40	chr7:6694849..6698438-chr7:6699530..6702045,3	K562	blood:
41	chr7:6628457..6631267-chr7:6660090..6662894,2	K562	blood:
42	chr7:6666562..6671587-chr7:6674314..6680724,9	MCF-7	breast:
43	chr7:6680149..6683134-chr7:6689202..6690780,2	K562	blood:
44	chr7:6698245..6699981-chr7:6737287..6739036,2	MCF-7	breast:
45	chr7:6659549..6661363-chr7:6670073..6672008,2	K562	blood:
46	chr12:56510812..56512603-chr7:6677169..6678802,2	MCF-7	breast:
47	chr7:6668744..6673941-chr7:6674951..6679228,16	MCF-7	breast:
48	chr7:6680998..6682837-chr7:6692889..6695214,2	MCF-7	breast:
49	chr7:6656631..6659250-chr7:6667009..6671468,4	MCF-7	breast:
50	chr7:6660093..6661828-chr7:6695492..6697100,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ZNF316	TF binding region
ENSG00000260054	TF binding region
ENSG00000228010	TF binding region
ZNF316	CpG island
ENSG00000260054	CpG island
ENSG00000228010	CpG island
ENSG00000164631	chromatin interactions
ENSG00000136247	chromatin interactions
ENSG00000228010	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000236609	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000146576	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000187953	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000077150	chromatin interactions
ENSG00000215045	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000260054	chromatin interactions
ENSG00000269781	chromatin interactions

Extended variants
information (count: 1895 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1895 , 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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	rs188215137	chr7:6657287-6657288	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529043928	chr7:6657292-6657293	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547210279	chr7:6657297-6657298	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558975045	chr7:6657315-6657316	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556383179	chr7:6657360-6657361	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532871116	chr7:6657368-6657369	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551098737	chr7:6657420-6657421	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545782435	chr7:6657431-6657432	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569303604	chr7:6657432-6657433	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79029245	chr7:6657486-6657487	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192082387	chr7:6657611-6657612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553721224	chr7:6657640-6657641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534879220	chr7:6657652-6657653	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143605778	chr7:6657683-6657684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370827836	chr7:6657699-6657700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571730618	chr7:6657704-6657705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539125594	chr7:6657725-6657726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs147223184	chr7:6657814-6657815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184432063	chr7:6657863-6657864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543022311	chr7:6657896-6657897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557697075	chr7:6657922-6657923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573880982	chr7:6657929-6657930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575962336	chr7:6657936-6657937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553506460	chr7:6657966-6657967	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189258169	chr7:6657988-6657989	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559110895	chr7:6657990-6657991	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181913535	chr7:6658004-6658005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117437632	chr7:6658105-6658106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561794641	chr7:6658117-6658118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563434991	chr7:6658133-6658134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530393053	chr7:6658162-6658163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2248363	chr7:6658208-6658209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:1734 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6655800-6659400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:6655800-6663200	Weak transcription	Liver	Liver
3	chr7:6656000-6657200	Enhancers	Lung	lung
4	chr7:6656000-6657200	Enhancers	Spleen	Spleen
5	chr7:6656000-6659000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:6656000-6659200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:6656000-6659200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:6656000-6659800	Weak transcription	Primary B cells from cord blood	blood
9	chr7:6656000-6659800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:6656000-6660600	Weak transcription	Aorta	Aorta
11	chr7:6656000-6660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:6656000-6660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:6656000-6661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:6656000-6661000	Weak transcription	Esophagus	oesophagus
15	chr7:6656000-6661000	Weak transcription	Left Ventricle	heart
16	chr7:6656000-6663200	Weak transcription	Fetal Kidney	kidney
17	chr7:6656000-6666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:6656000-6676000	Weak transcription	Psoas Muscle	Psoas
19	chr7:6656200-6657000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:6656200-6657000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:6656200-6657000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:6656200-6657000	Enhancers	Brain Germinal Matrix	brain
23	chr7:6656200-6657000	Enhancers	Brain Hippocampus Middle	brain
24	chr7:6656200-6657000	Weak transcription	Brain Substantia Nigra	brain
25	chr7:6656200-6657000	Enhancers	Fetal Muscle Trunk	muscle
26	chr7:6656200-6657000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:6656200-6657000	Weak transcription	Thymus	Thymus
28	chr7:6656200-6657200	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:6656200-6657400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:6656200-6659200	Weak transcription	Primary T cells from cord blood	blood
31	chr7:6656200-6659800	Weak transcription	Brain Anterior Caudate	brain
32	chr7:6656200-6660600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:6656200-6660600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:6656200-6660600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:6656200-6660600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:6656200-6660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:6656200-6660800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:6656200-6660800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:6656200-6660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:6656200-6660800	Weak transcription	Fetal Intestine Large	intestine
41	chr7:6656200-6661000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:6656200-6661000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:6656200-6661000	Weak transcription	Right Ventricle	heart
44	chr7:6656200-6661200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:6656200-6661200	Weak transcription	Right Atrium	heart
46	chr7:6656200-6662800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:6656200-6669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:6656200-6675800	Weak transcription	HSMM	muscle
49	chr7:6656400-6657000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:6656400-6657000	Weak transcription	Fetal Brain Female	brain

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