Variant report

Variant	nsv606006
Chromosome Location	chr7:6659509-6721661
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1469)
CpG islands
(count:2748)
Chromatin interactive
region (count:109)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1469 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

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	chr7:6676729-6677016	HepG2	liver:	n/a	n/a
5	ATF3	chr7:6676764-6677038	K562	blood:	n/a	n/a
6	ATF3	chr7:6676775-6677020	GM12878	blood:	n/a	n/a
7	ATF3	chr7:6676663-6677108	GM12878	blood:	n/a	n/a
8	BACH1	chr7:6676413-6677735	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:6677373-6677430	K562	blood:	n/a	n/a
10	BACH1	chr7:6676690-6676978	K562	blood:	n/a	n/a
11	BACH1	chr7:6703886-6703996	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr7:6679547-6679737	GM12878	blood:	n/a	n/a
13	BATF	chr7:6659295-6659530	GM12878	blood:	n/a	n/a
14	BCL3	chr7:6662073-6662402	GM12878	blood:	n/a	n/a
15	BCL3	chr7:6693271-6693492	GM12878	blood:	n/a	n/a
16	BCL3	chr7:6693791-6694049	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	BCL3	chr7:6676620-6677051	GM12878	blood:	n/a	chr7:6676897-6676906
19	BCLAF1	chr7:6676612-6677075	GM12878	blood:	n/a	chr7:6676897-6676906
20	BHLHE40	chr7:6679828-6680319	K562	blood:	n/a	n/a
21	BHLHE40	chr7:6676405-6676427	K562	blood:	n/a	n/a
22	BHLHE40	chr7:6663730-6663805	GM12878	blood:	n/a	n/a
23	BHLHE40	chr7:6679587-6679733	GM12878	blood:	n/a	n/a
24	BHLHE40	chr7:6698832-6699007	K562	blood:	n/a	n/a
25	BHLHE40	chr7:6677264-6677647	K562	blood:	n/a	chr7:6677407-6677423
26	BHLHE40	chr7:6676643-6677601	GM12878	blood:	n/a	chr7:6677407-6677423
27	BHLHE40	chr7:6676722-6677023	K562	blood:	n/a	n/a
28	BHLHE40	chr7:6698826-6699225	HepG2	liver:	n/a	n/a
29	BHLHE40	chr7:6685656-6685802	K562	blood:	n/a	n/a
30	BRCA1	chr7:6698867-6699045	H1-hESC	embryonic stem cell:	n/a	n/a
31	CBX3	chr7:6677286-6677693	K562	blood:	n/a	n/a
32	CBX3	chr7:6679531-6680589	K562	blood:	n/a	n/a
33	CBX3	chr7:6714585-6714947	K562	blood:	n/a	n/a
34	CBX3	chr7:6715528-6715998	K562	blood:	n/a	n/a
35	CBX3	chr7:6679776-6680216	K562	blood:	n/a	n/a
36	CBX3	chr7:6715451-6715881	K562	blood:	n/a	n/a
37	CBX3	chr7:6676642-6676930	K562	blood:	n/a	n/a
38	CCNT2	chr7:6694042-6694139	K562	blood:	n/a	n/a
39	CCNT2	chr7:6676308-6677623	K562	blood:	n/a	n/a
40	CEBPB	chr7:6699055-6699407	HepG2	liver:	n/a	chr7:6699226-6699237
41	CEBPB	chr7:6679421-6679645	A549	lung:	n/a	n/a
42	CEBPB	chr7:6679380-6679580	HepG2	liver:	n/a	n/a
43	CEBPB	chr7:6679892-6680277	K562	blood:	n/a	n/a
44	CEBPB	chr7:6661220-6661668	HepG2	liver:	n/a	n/a
45	CEBPB	chr7:6661217-6661676	HepG2	liver:	n/a	n/a
46	CEBPB	chr7:6679441-6679533	K562	blood:	n/a	n/a
47	CEBPB	chr7:6661168-6661656	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr7:6699127-6699332	HepG2	liver:	n/a	chr7:6699226-6699237
49	CEBPB	chr7:6699089-6699426	H1-hESC	embryonic stem cell:	n/a	chr7:6699226-6699237
50	CEBPB	chr7:6661397-6661453	A549	lung:	n/a	n/a

(count:2748 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6676630-6676680	HRE	kidney:	n/a
2	chr7:6704074-6704124	PFSK-1	brain:	n/a
3	chr7:6680085-6680135	HCT-116	colon:	n/a
4	chr7:6676630-6676680	HRE	kidney:	n/a
5	chr7:6704074-6704124	PFSK-1	brain:	n/a
6	chr7:6680085-6680135	HCT-116	colon:	n/a
7	chr7:6676832-6676882	LNCaP	prostate:	n/a
8	chr7:6677433-6677483	BJ	skin:	n/a
9	chr7:6662329-6662379	H1-hESC	embryonic stem cell:	embryo
10	chr7:6680085-6680135	GM12892	blood:	n/a
11	chr7:6691949-6691999	HCF	heart:	n/a
12	chr7:6676832-6676882	SK-N-SH	brain:	n/a
13	chr7:6662789-6662839	HEK293	kidney:	embryo
14	chr7:6693838-6693888	GM12892	blood:	n/a
15	chr7:6696120-6696170	Jurkat	blood:	n/a
16	chr7:6702706-6702756	HIPEpiC	eye:	n/a
17	chr7:6693334-6693384	HNPCEpiC	eye:	n/a
18	chr7:6689218-6689268	AG10803	skin:	n/a
19	chr7:6676832-6676882	PrEC	prostate:	n/a
20	chr7:6677433-6677483	RPTEC	kidney:	n/a
21	chr7:6661804-6661854	SK-N-MC	brain:	n/a
22	chr7:6704194-6704244	HCM	heart:	n/a
23	chr7:6704045-6704095	NT2-D1	testis:	n/a
24	chr7:6704045-6704095	BE2_C	brain:	n/a
25	chr7:6693030-6693080	SK-N-MC	brain:	n/a
26	chr7:6703803-6703853	GM19239	blood:	n/a
27	chr7:6676168-6676218	NHDF-neo	bronchial:	n/a
28	chr7:6695121-6695171	HL-60	blood:	n/a
29	chr7:6676001-6676051	A549	lung:	n/a
30	chr7:6694978-6695028	HRPEpiC	eye:	n/a
31	chr7:6676630-6676680	Jurkat	blood:	n/a
32	chr7:6696120-6696170	HRCEpiC	kidney:	n/a
33	chr7:6666368-6666418	ovcar-3	ovarian:	n/a
34	chr7:6662329-6662379	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:6662789-6662839	ProgFib	skin:	n/a
36	chr7:6695121-6695171	ProgFib	skin:	n/a
37	chr7:6676832-6676882	SK-N-SH_RA	brain:	n/a
38	chr7:6695092-6695142	Caco-2	colon:	n/a
39	chr7:6662329-6662379	GM12891	blood:	n/a
40	chr7:6676832-6676882	HMEC	breast:	n/a
41	chr7:6660095-6660145	AG10803	skin:	n/a
42	chr7:6676630-6676680	HCF	heart:	n/a
43	chr7:6676001-6676051	AoSMC	blood vessel:	n/a
44	chr7:6681379-6681429	HL-60	blood:	n/a
45	chr7:6695092-6695142	A549	lung:	n/a
46	chr7:6693030-6693080	HAEpiC	amniotic membrane:	n/a
47	chr7:6696120-6696170	SK-N-SH	brain:	n/a
48	chr7:6704074-6704124	SK-N-MC	brain:	n/a
49	chr7:6677606-6677656	PANC-1	pancreas:	n/a
50	chr7:6662329-6662379	HUVEC	blood vessel:	n/a

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:6661901..6664151-chr7:6670252..6671986,3	MCF-7	breast:
2	chr7:6718119..6720452-chr7:6726209..6729204,2	K562	blood:
3	chr7:6668744..6673941-chr7:6674951..6679228,16	MCF-7	breast:
4	chr7:6645170..6647656-chr7:6721647..6723270,2	K562	blood:
5	chr7:6682551..6684434-chr7:6694308..6696080,2	MCF-7	breast:
6	chr7:6675369..6676975-chr7:6698332..6700533,2	MCF-7	breast:
7	chr7:6688371..6689911-chr7:6696909..6698726,2	K562	blood:
8	chr7:6716360..6719322-chr7:6721448..6722993,2	K562	blood:
9	chr7:6656839..6659879-chr7:6661538..6663786,3	K562	blood:
10	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
11	chr7:6669640..6671625-chr7:6687041..6689974,2	MCF-7	breast:
12	chr7:6694849..6698438-chr7:6699530..6702045,3	K562	blood:
13	chr7:6614762..6617092-chr7:6682142..6684739,2	K562	blood:
14	chr7:6655297..6658106-chr7:6659491..6662615,3	K562	blood:
15	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
16	chr7:6656631..6659250-chr7:6667009..6671468,4	MCF-7	breast:
17	chr7:6685863..6688294-chr7:6688920..6690681,2	MCF-7	breast:
18	chr7:6629033..6631170-chr7:6716133..6717693,2	K562	blood:
19	chr7:6681267..6684799-chr7:6697447..6700610,3	MCF-7	breast:
20	chr7:6541950..6543739-chr7:6677071..6679453,2	K562	blood:
21	chr7:6641654..6643210-chr7:6674814..6676517,2	MCF-7	breast:
22	chr7:6615800..6617832-chr7:6677563..6680150,2	MCF-7	breast:
23	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
24	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
25	chr7:6677446..6679002-chr7:6745294..6747715,2	K562	blood:
26	chr7:6676518..6678447-chr7:6694438..6696514,2	MCF-7	breast:
27	chr7:6708183..6710954-chr7:6729478..6731044,2	K562	blood:
28	chr7:6706877..6708740-chr7:6715302..6717943,2	K562	blood:
29	chr7:6720927..6723913-chr7:6737715..6740062,2	K562	blood:
30	chr7:6669640..6671625-chr7:6687041..6689974,2	MCF-7	breast:
31	chr7:6652934..6655791-chr7:6675915..6678392,2	MCF-7	breast:
32	chr7:6570467..6572933-chr7:6675256..6676794,2	MCF-7	breast:
33	chr7:6668305..6670110-chr7:6679585..6681865,2	MCF-7	breast:
34	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
35	chr7:6661077..6664696-chr7:6667812..6669863,3	MCF-7	breast:
36	chr7:6629079..6630175-chr7:6676992..6678000,4	MCF-7	breast:
37	chr17:57920745..57921576-chr7:6676970..6677850,2	HCT-116	colon:
38	chr7:6706877..6708740-chr7:6715302..6717943,2	K562	blood:
39	chr7:6715429..6717492-chr7:6718379..6720782,3	K562	blood:
40	chr7:6672567..6674181-chr7:6688854..6690680,2	K562	blood:
41	chr7:6637338..6640081-chr7:6675258..6678566,5	MCF-7	breast:
42	chr7:6645718..6648142-chr7:6667020..6668593,2	K562	blood:
43	chr7:6668677..6671566-chr7:6683216..6685538,2	MCF-7	breast:
44	chr12:56510812..56512603-chr7:6677169..6678802,2	MCF-7	breast:
45	chr7:6689485..6692014-chr7:6722455..6725146,3	MCF-7	breast:
46	chr7:6698325..6700210-chr7:6703299..6704869,2	MCF-7	breast:
47	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
48	chr7:6675529..6677980-chr7:6768487..6770695,2	K562	blood:
49	chr7:6698245..6699981-chr7:6737287..6739036,2	MCF-7	breast:
50	chr7:6687023..6688997-chr7:6745010..6747605,2	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6712836-6714110	NONHSAT119055
2	lnc-AC073343.1-2	chr7:6694495-6696063	ENSG00000260054.1
3	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1
4	lnc-AC073343.1-3	chr7:6717086-6718009	NONHSAT119057
5	lnc-AC073343.1-1	chr7:6704675-6705152	NONHSAT119056
6	lnc-ZNF853-2	chr7:6679361-6680635	ucscGeneNc_uc003sqr_1
7	lnc-ZNF12-1	chr7:6708412-6708689	expReg_chr7_763_-
8	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
9	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
10	lnc-AC073343.1-1	chr7:6704675-6704739	NONHSAT119055
11	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119055
12	lnc-AC073343.1-1	chr7:6704675-6704739	ENSG00000228010.1
13	lnc-AC073343.1-1	chr7:6704675-6705152	ENSG00000228010.1
14	lnc-AC073343.1-1	chr7:6703605-6703674	NONHSAT119056
15	lnc-AC073343.1-1	chr7:6712836-6713232	ENSG00000228010.1
16	lnc-ZNF853-2	chr7:6670130-6670199	ucscGeneNc_uc003sqr_1
17	lnc-AC073343.1-1	chr7:6703605-6703674	ENSG00000228010.1
18	lnc-AC073343.1-1	chr7:6712836-6713398	NONHSAT119056
19	lnc-ZNF853-2	chr7:6671200-6671264	ucscGeneNc_uc003sqr_1

No data

Variant related genes	Relation type
ENSG00000198580	TF binding region
ZNF316	TF binding region
ENSG00000260054	TF binding region
ENSG00000228010	TF binding region
ENSG00000198580	CpG island
ZNF316	CpG island
ENSG00000260054	CpG island
ENSG00000228010	CpG island
ENSG00000188825	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000198580	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000187953	chromatin interactions
ENSG00000260054	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000146576	chromatin interactions
ENSG00000077150	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000228010	chromatin interactions
ENSG00000265245	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000236609	chromatin interactions
ENSG00000136247	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000215045	chromatin interactions

Extended variants
information (count: 3144 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3144 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2346263	chr7:6659509-6659510	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552157659	chr7:6659519-6659520	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374485793	chr7:6659541-6659542	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541130843	chr7:6659550-6659551	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2881361	chr7:6659617-6659618	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2881360	chr7:6659619-6659620	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571169794	chr7:6659636-6659637	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538915859	chr7:6659645-6659646	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549104298	chr7:6659661-6659662	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7790928	chr7:6659708-6659709	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs572566645	chr7:6659715-6659716	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186511479	chr7:6659773-6659774	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374114135	chr7:6659795-6659796	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536092138	chr7:6659830-6659831	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34416191	chr7:6659852-6659853	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10239018	chr7:6659940-6659941	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572977942	chr7:6659962-6659963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370620345	chr7:6659966-6659967	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540193039	chr7:6659992-6659993	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542763824	chr7:6660002-6660003	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576958836	chr7:6660020-6660021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564661697	chr7:6660037-6660038	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550024319	chr7:6660038-6660039	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530282280	chr7:6660071-6660072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs36097274	chr7:6660079-6660080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548524583	chr7:6660096-6660097	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs531588282	chr7:6660129-6660130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs571432578	chr7:6660146-6660147	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs138713861	chr7:6660196-6660197	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369554569	chr7:6660197-6660198	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201414209	chr7:6660218-6660219	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs58809570	chr7:6660219-6660220	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs112867462	chr7:6660225-6660226	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs2248127	chr7:6660233-6660234	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201947716	chr7:6660239-6660240	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs371927667	chr7:6660265-6660266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs565837578	chr7:6660281-6660282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs552294424	chr7:6660348-6660349	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs372814453	chr7:6660428-6660429	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570510977	chr7:6660442-6660443	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs531636396	chr7:6660473-6660474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs550837794	chr7:6660487-6660488	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs191379678	chr7:6660525-6660526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs141071524	chr7:6660553-6660554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs554812862	chr7:6660563-6660564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs940872	chr7:6660576-6660577	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs554066026	chr7:6660606-6660607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs566713522	chr7:6660607-6660608	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs533866882	chr7:6660628-6660629	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs558712032	chr7:6660629-6660630	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2126 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6655800-6663200	Weak transcription	Liver	Liver
2	chr7:6656000-6659800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:6656000-6659800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:6656000-6660600	Weak transcription	Aorta	Aorta
5	chr7:6656000-6660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:6656000-6660800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:6656000-6661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:6656000-6661000	Weak transcription	Esophagus	oesophagus
9	chr7:6656000-6661000	Weak transcription	Left Ventricle	heart
10	chr7:6656000-6663200	Weak transcription	Fetal Kidney	kidney
11	chr7:6656000-6666600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:6656000-6676000	Weak transcription	Psoas Muscle	Psoas
13	chr7:6656200-6659800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:6656200-6660600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:6656200-6660600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:6656200-6660600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:6656200-6660600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:6656200-6660800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:6656200-6660800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:6656200-6660800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:6656200-6660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:6656200-6660800	Weak transcription	Fetal Intestine Large	intestine
23	chr7:6656200-6661000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:6656200-6661000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:6656200-6661000	Weak transcription	Right Ventricle	heart
26	chr7:6656200-6661200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:6656200-6661200	Weak transcription	Right Atrium	heart
28	chr7:6656200-6662800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:6656200-6669200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:6656200-6675800	Weak transcription	HSMM	muscle
31	chr7:6656400-6660600	Weak transcription	Gastric	stomach
32	chr7:6656400-6660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:6656600-6660400	Weak transcription	Brain Angular Gyrus	brain
34	chr7:6656600-6660600	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:6656600-6660800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:6656600-6669200	Weak transcription	Fetal Heart	heart
37	chr7:6656800-6660600	Weak transcription	HepG2	liver
38	chr7:6656800-6661000	Weak transcription	Pancreas	Pancrea
39	chr7:6656800-6661000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:6656800-6667000	Strong transcription	Fetal Stomach	stomach
41	chr7:6656800-6675800	Weak transcription	Fetal Brain Male	brain
42	chr7:6657000-6660000	Weak transcription	Brain Germinal Matrix	brain
43	chr7:6657000-6660800	Weak transcription	Adipose Nuclei	Adipose
44	chr7:6657000-6660800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:6657000-6661000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:6657000-6664200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:6657000-6665000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:6657000-6665400	Strong transcription	Fetal Muscle Leg	muscle
49	chr7:6657000-6665800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:6657000-6666000	Strong transcription	Fetal Brain Female	brain

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