Variant report

Variant	rs7801659
Chromosome Location	chr7:3202157-3202158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:3202020-3202170	HPAF	blood vessel:	n/a	chr7:3202038-3202045
2	CTCF	chr7:3202027-3202184	Gliobla	brain:	n/a	chr7:3202038-3202045
3	MAZ	chr7:3201983-3202243	K562	blood:	n/a	n/a
4	RAD21	chr7:3202000-3202160	GM12878	blood:	n/a	chr7:3202099-3202118
5	CTCF	chr7:3201938-3202191	HepG2	liver:	n/a	chr7:3202038-3202045
6	CTCF	chr7:3202040-3202190	RPTEC	kidney:	n/a	n/a
7	CTCF	chr7:3202080-3202230	HCT-116	colon:	n/a	n/a
8	CTCF	chr7:3202014-3202198	HUVEC	blood vessel:	n/a	chr7:3202038-3202045
9	CTCF	chr7:3202040-3202190	HEK293	kidney:	n/a	n/a
10	CTCF	chr7:3202040-3202190	BE2_C	brain:	n/a	n/a
11	RAD21	chr7:3201926-3202308	MCF-7	breast:	n/a	chr7:3202099-3202118
12	CTCF	chr7:3202060-3202210	K562	blood:	n/a	n/a
13	RAD21	chr7:3202014-3202298	A549	lung:	n/a	chr7:3202099-3202118
14	EGR1	chr7:3201965-3202230	K562	blood:	n/a	chr7:3202065-3202080 chr7:3202061-3202076
15	CTCF	chr7:3202040-3202190	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr7:3202009-3202173	HepG2	liver:	n/a	chr7:3202038-3202045
17	CTCF	chr7:3202057-3202169	GM19238	blood:	n/a	n/a
18	CTCF	chr7:3202019-3202209	MCF-7	breast:	n/a	chr7:3202038-3202045
19	CTCF	chr7:3202054-3202162	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:3202016-3202198	MCF-7	breast:	n/a	chr7:3202038-3202045
21	CTCF	chr7:3202037-3202180	MCF-7	breast:	n/a	chr7:3202038-3202045
22	CTCF	chr7:3202040-3202190	GM12875	blood:	n/a	n/a
23	CTCF	chr7:3202040-3202190	HPF	lung:	n/a	n/a
24	SMC3	chr7:3201983-3202256	HepG2	liver:	n/a	n/a
25	CTCF	chr7:3202020-3202170	HCPEpiC	choroid plexus:	n/a	chr7:3202038-3202045
26	RAD21	chr7:3201991-3202296	SK-N-SH_RA	brain:	n/a	chr7:3202099-3202118
27	CTCF	chr7:3201964-3202252	H1-hESC	embryonic stem cell:	n/a	chr7:3202038-3202045
28	CTCF	chr7:3202060-3202210	HVMF	connective:	n/a	n/a
29	RAD21	chr7:3202019-3202274	ECC-1	luminal epithelium:	n/a	chr7:3202099-3202118
30	RAD21	chr7:3201952-3202375	A549	lung:	n/a	chr7:3202099-3202118
31	RAD21	chr7:3201995-3202370	MCF-7	breast:	n/a	chr7:3202099-3202118
32	CTCF	chr7:3202060-3202210	GM12866	blood:	n/a	n/a
33	CTCF	chr7:3202040-3202190	GM12867	blood:	n/a	n/a
34	CTCF	chr7:3202042-3202172	GM12892	blood:	n/a	n/a
35	CTCF	chr7:3202020-3202170	AG04450	lung:	n/a	chr7:3202038-3202045
36	CTCF	chr7:3202020-3202170	HVMF	connective:	n/a	chr7:3202038-3202045
37	CTCF	chr7:3202100-3202250	HCT-116	colon:	n/a	n/a
38	CTCF	chr7:3202020-3202170	AoAF	blood vessel:	n/a	chr7:3202038-3202045
39	CTCF	chr7:3202040-3202190	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr7:3202040-3202192	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:3202020-3202170	GM12864	blood:	n/a	chr7:3202038-3202045
42	CTCF	chr7:3201986-3202202	K562	blood:	n/a	chr7:3202038-3202045
43	RAD21	chr7:3201843-3202504	SK-N-SH	brain:	n/a	chr7:3202099-3202118
44	CTCF	chr7:3202040-3202190	GM12872	blood:	n/a	n/a
45	CTCF	chr7:3202032-3202166	GM19240	blood:	n/a	chr7:3202038-3202045
46	CTCF	chr7:3202005-3202248	A549	lung:	n/a	chr7:3202038-3202045
47	RAD21	chr7:3201937-3202257	SK-N-SH_RA	brain:	n/a	chr7:3202099-3202118
48	CTCF	chr7:3202020-3202170	Hela-S3	cervix:	n/a	chr7:3202038-3202045
49	CTCF	chr7:3202020-3202170	GM12868	blood:	n/a	chr7:3202038-3202045
50	CTCF	chr7:3202020-3202170	HMF	breast:	n/a	chr7:3202038-3202045

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3201417..3202351-chr7:3240242..3240878,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000217455	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10755848	0.91[ASN][1000 genomes]
rs10807829	0.91[ASN][1000 genomes]
rs10951083	0.91[ASN][1000 genomes]
rs10951097	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10951110	0.86[CHB][hapmap]
rs11767606	0.82[ASN][1000 genomes]
rs12700653	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs12700660	0.91[ASN][1000 genomes]
rs12700661	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236481	0.90[ASN][1000 genomes]
rs4262241	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281028	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472420	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4722490	0.91[ASN][1000 genomes]
rs4722496	0.89[ASN][1000 genomes]
rs6946551	0.80[AFR][1000 genomes]
rs6949750	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970110	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6974216	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975098	0.91[ASN][1000 genomes]
rs6979217	0.91[ASN][1000 genomes]
rs7777422	0.90[ASN][1000 genomes]
rs7778334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7778341	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs7781201	0.91[ASN][1000 genomes]
rs7782275	0.91[ASN][1000 genomes]
rs7782623	0.91[ASN][1000 genomes]
rs7797132	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801306	0.91[ASN][1000 genomes]
rs7812211	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1020680	chr7:3125512-3204521	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1027945	chr7:3125512-3208071	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1015656	chr7:3131821-3321353	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1027009	chr7:3141609-3311344	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv538658	chr7:3141609-3311344	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv533533	chr7:3167411-3214077	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv967449	chr7:3167678-3271703	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv1018815	chr7:3185993-3220408	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1023477	chr7:3185993-3224102	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv464264	chr7:3194156-3349625	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv605880	chr7:3194156-3349625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1032915	chr7:3195628-3251756	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv518337	chr7:3196333-3240101	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv525011	chr7:3196333-3264728	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7801659	KIAA0415	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3178400-3204600	Weak transcription	Right Atrium	heart
2	chr7:3197800-3207000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:3201200-3203000	Weak transcription	Gastric	stomach
4	chr7:3201400-3202800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links