Variant report

Variant	rs10235592
Chromosome Location	chr7:3240468-3240469
allele	A/G
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	RAD21	chr7:3240094-3240498	H1-hESC	embryonic stem cell:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
2	RAD21	chr7:3240058-3240501	A549	lung:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
3	ZNF384	chr7:3240260-3240492	GM12878	blood:	n/a	n/a
4	RAD21	chr7:3240082-3240551	ECC-1	luminal epithelium:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
5	CTCF	chr7:3240117-3241119	A549	lung:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
6	ZNF143	chr7:3240169-3240482	GM12878	blood:	n/a	n/a
7	RAD21	chr7:3240140-3240481	IMR90	lung:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
8	JUND	chr7:3240165-3240524	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr7:3240185-3240517	ECC-1	luminal epithelium:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
10	CTCF	chr7:3240092-3240538	HepG2	liver:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
11	CTCF	chr7:3240139-3240517	K562	blood:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
12	RAD21	chr7:3240123-3240564	HepG2	liver:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
13	SMC3	chr7:3240197-3240480	K562	blood:	n/a	chr7:3240325-3240339 chr7:3240331-3240339
14	CTCF	chr7:3240140-3240600	HCT-116	colon:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
15	RAD21	chr7:3240061-3240508	H1-hESC	embryonic stem cell:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
16	CTCF	chr7:3240058-3240575	MCF-7	breast:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
17	RAD21	chr7:3240036-3240634	SK-N-SH	brain:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
18	RAD21	chr7:3240186-3240479	A549	lung:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
19	RAD21	chr7:3240134-3240498	HepG2	liver:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
20	RAD21	chr7:3240162-3240469	GM12878	blood:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
21	SMC3	chr7:3240109-3240561	HepG2	liver:	n/a	chr7:3240325-3240339 chr7:3240331-3240339
22	CTCF	chr7:3240208-3240469	HUVEC	blood vessel:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
23	RAD21	chr7:3240025-3240597	HCT-116	colon:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
24	CTCF	chr7:3240320-3240470	SK-N-SH_RA	brain:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
25	CTCF	chr7:3240142-3240513	GM12878	blood:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
26	RAD21	chr7:3239993-3240550	MCF-7	breast:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
27	ZNF143	chr7:3240154-3240497	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:3240062-3240544	K562	blood:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
29	RAD21	chr7:3240069-3240596	MCF-7	breast:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
30	ZNF384	chr7:3240171-3240576	K562	blood:	n/a	n/a
31	RAD21	chr7:3240172-3240493	Hela-S3	cervix:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
32	CTCF	chr7:3240082-3240553	A549	lung:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
33	CTCF	chr7:3240052-3240575	MCF-7	breast:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
34	RAD21	chr7:3240026-3240551	HCT-116	colon:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
35	RAD21	chr7:3240107-3240528	H1-hESC	embryonic stem cell:	n/a	chr7:3240321-3240340 chr7:3240324-3240337
36	CTCF	chr7:3240166-3240519	IMR90	lung:	n/a	chr7:3240325-3240338 chr7:3240329-3240338 chr7:3240323-3240341
37	SMC3	chr7:3240156-3240505	GM12878	blood:	n/a	chr7:3240325-3240339 chr7:3240331-3240339
38	RAD21	chr7:3240024-3240562	A549	lung:	n/a	chr7:3240321-3240340 chr7:3240324-3240337

No.	Distal block	Cell Line	Cell type
1	chr7:3128837..3129871-chr7:3239803..3240577,4	MCF-7	breast:
2	chr7:3201417..3202351-chr7:3240242..3240878,3	MCF-7	breast:
3	chr7:3104998..3105685-chr7:3239854..3240733,2	MCF-7	breast:
4	chr7:3240198..3242825-chr7:3445733..3447901,2	K562	blood:
5	chr7:2926249..2926927-chr7:3240062..3240775,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231892	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12700693	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952606	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv464265	chr7:3213851-3258801	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv605881	chr7:3213851-3258801	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv1023127	chr7:3216344-3466223	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv464266	chr7:3218524-3258801	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv605882	chr7:3218524-3258801	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv518354	chr7:3220990-3286425	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3234800-3240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:3237800-3241600	Weak transcription	Pancreas	Pancrea
3	chr7:3237800-3242000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:3240000-3240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:3240400-3240800	Enhancers	Fetal Intestine Small	intestine

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