Variant report

Variant	rs2355107
Chromosome Location	chr7:11875137-11875138
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	SMC3	chr7:11875070-11875173	GM12878	blood:	n/a	n/a
2	CTCF	chr7:11874492-11875573	SK-N-SH	brain:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
3	RAD21	chr7:11874374-11875729	SK-N-SH	brain:	n/a	chr7:11875070-11875089
4	RAD21	chr7:11874973-11875319	H1-hESC	embryonic stem cell:	n/a	chr7:11875070-11875089
5	CTCF	chr7:11875060-11875210	SK-N-SH_RA	brain:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
6	CTCF	chr7:11874986-11875143	A549	lung:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
7	CTCF	chr7:11875013-11875190	MCF-7	breast:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
8	CTCF	chr7:11874959-11875256	MCF-7	breast:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
9	CTCF	chr7:11874982-11875176	LNCaP	prostate:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
10	RAD21	chr7:11874904-11875346	H1-hESC	embryonic stem cell:	n/a	chr7:11875070-11875089
11	RAD21	chr7:11874814-11875394	ECC-1	luminal epithelium:	n/a	chr7:11875070-11875089
12	CTCF	chr7:11875007-11875207	K562	blood:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
13	CTCF	chr7:11875000-11875150	HMF	breast:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
14	CTCF	chr7:11874949-11875178	H1-hESC	embryonic stem cell:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
15	CTCF	chr7:11874990-11875171	LNCaP	prostate:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
16	CTCF	chr7:11875000-11875150	MCF-7	breast:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
17	CTCF	chr7:11875020-11875170	HVMF	connective:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
18	CTCF	chr7:11875020-11875170	HCPEpiC	choroid plexus:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
19	CTCF	chr7:11875020-11875170	HPF	lung:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
20	RAD21	chr7:11874907-11875306	SK-N-SH_RA	brain:	n/a	chr7:11875070-11875089
21	RAD21	chr7:11874944-11875269	A549	lung:	n/a	chr7:11875070-11875089
22	CTCF	chr7:11874991-11875189	SK-N-SH_RA	brain:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
23	CTCF	chr7:11875032-11875147	GM12878	blood:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
24	SMC3	chr7:11874917-11875304	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr7:11875026-11875189	Gliobla	brain:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
26	CTCF	chr7:11874914-11875255	A549	lung:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
27	CTCF	chr7:11875040-11875190	HBMEC	blood vessel:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
28	CTCF	chr7:11875000-11875150	HPF	lung:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
29	RAD21	chr7:11874947-11875482	MCF-7	breast:	n/a	chr7:11875070-11875089
30	CTCF	chr7:11875027-11875137	Kidney_OC	kidney:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
31	CTCF	chr7:11875040-11875190	HCT-116	colon:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
32	RAD21	chr7:11874880-11875399	HCT-116	colon:	n/a	chr7:11875070-11875089
33	RAD21	chr7:11874901-11875333	IMR90	lung:	n/a	chr7:11875070-11875089
34	CTCF	chr7:11875040-11875190	HRPEpiC	eye:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
35	RAD21	chr7:11874838-11875239	HepG2	liver:	n/a	chr7:11875070-11875089
36	CTCF	chr7:11875080-11875230	BE2_C	brain:	n/a	n/a
37	CTCF	chr7:11875100-11875250	HCFaa	heart:	n/a	n/a
38	RAD21	chr7:11874999-11875157	GM12878	blood:	n/a	chr7:11875070-11875089
39	CTCF	chr7:11875020-11875170	HMF	breast:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
40	CTCF	chr7:11875050-11875162	MCF-7	breast:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
41	CTCF	chr7:11875020-11875170	AG09309	skin:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
42	CTCF	chr7:11874996-11875180	HepG2	liver:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
43	RAD21	chr7:11874972-11875138	GM12878	blood:	n/a	chr7:11875070-11875089
44	RAD21	chr7:11874857-11875382	ECC-1	luminal epithelium:	n/a	chr7:11875070-11875089
45	CTCF	chr7:11875000-11875150	HCM	heart:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
46	CTCF	chr7:11875023-11875145	K562	blood:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
47	CTCF	chr7:11875000-11875150	AG04449	skin:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
48	CTCF	chr7:11874997-11875192	Hela-S3	cervix:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087
49	RAD21	chr7:11874934-11875272	H1-hESC	embryonic stem cell:	n/a	chr7:11875070-11875089
50	CTCF	chr7:11875000-11875150	Caco-2	colon:	n/a	chr7:11875070-11875086 chr7:11875071-11875092 chr7:11875069-11875087

Variant related genes	Relation type
THSD7A	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10224053	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10228370	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10232241	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10241322	0.85[ASN][1000 genomes]
rs11979135	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13226381	0.81[EUR][1000 genomes]
rs2355106	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2355110	0.81[EUR][1000 genomes]
rs2355111	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2883596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35302727	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36083223	0.81[EUR][1000 genomes]
rs4721016	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6942789	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6943249	0.80[EUR][1000 genomes]
rs6966075	0.85[ASN][1000 genomes]
rs6978088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7458129	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv887614	chr7:11778424-12211198	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830905	chr7:11793513-11941594	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv606203	chr7:11870711-11915630	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv887615	chr7:11870711-11938060	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr7:11872200-11875200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:11873600-11876800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:11873800-11875200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:11873800-11875200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:11873800-11875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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