Variant report

Variant	rs7315186
Chromosome Location	chr12:40840435-40840436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:40840275-40840508	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr12:40840320-40840470	NHEK	skin:	n/a	n/a
3	CTCF	chr12:40840320-40840470	AoAF	blood vessel:	n/a	n/a
4	CTCF	chr12:40840340-40840490	HRE	kidney:	n/a	n/a
5	CTCF	chr12:40840340-40840490	GM12864	blood:	n/a	n/a
6	CTCF	chr12:40840300-40840450	AG09309	skin:	n/a	n/a
7	CTCF	chr12:40840300-40840450	HL-60	blood:	n/a	n/a
8	SMC3	chr12:40840183-40840574	GM12878	blood:	n/a	n/a
9	CTCF	chr12:40840211-40840478	HepG2	liver:	n/a	n/a
10	CTCF	chr12:40840281-40840451	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:40840295-40840472	GM20000	blood:	n/a	n/a
12	RAD21	chr12:40840236-40840548	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:40840286-40840484	LNCaP	prostate:	n/a	n/a
14	CTCF	chr12:40840400-40840550	NB4	blood:	n/a	n/a
15	CTCF	chr12:40840320-40840470	GM12866	blood:	n/a	n/a
16	CTCF	chr12:40840211-40840461	A549	lung:	n/a	n/a
17	CTCF	chr12:40840202-40840518	SK-N-SH_RA	brain:	n/a	n/a
18	RAD21	chr12:40840235-40840485	GM12878	blood:	n/a	n/a
19	CTCF	chr12:40840291-40840476	K562	blood:	n/a	n/a
20	RAD21	chr12:40840236-40840541	GM12878	blood:	n/a	n/a
21	CTCF	chr12:40840320-40840470	HEK293	kidney:	n/a	n/a
22	CTCF	chr12:40840380-40840530	HMEC	breast:	n/a	n/a
23	CTCF	chr12:40840300-40840450	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr12:40840101-40840731	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr12:40840251-40840451	K562	blood:	n/a	n/a
26	CTCF	chr12:40840356-40840440	Lung_OC	lung:	n/a	n/a
27	CTCF	chr12:40840340-40840490	HMF	breast:	n/a	n/a
28	CTCF	chr12:40840300-40840450	HEK293	kidney:	n/a	n/a
29	CTCF	chr12:40840300-40840450	HMEC	breast:	n/a	n/a
30	CTCF	chr12:40840340-40840490	HA-sp	spinal cord:	n/a	n/a
31	SMC3	chr12:40840220-40840523	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr12:40840291-40840465	HepG2	liver:	n/a	n/a
33	CTCF	chr12:40840323-40840452	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr12:40840360-40840510	GM12872	blood:	n/a	n/a
35	CTCF	chr12:40840300-40840450	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr12:40840320-40840470	GM12865	blood:	n/a	n/a
37	CTCF	chr12:40840300-40840450	GM12873	blood:	n/a	n/a
38	CTCF	chr12:40840274-40840445	A549	lung:	n/a	n/a
39	ZNF143	chr12:40840247-40840557	GM12878	blood:	n/a	chr12:40840261-40840276
40	CTCF	chr12:40840320-40840470	GM12874	blood:	n/a	n/a
41	RAD21	chr12:40840243-40840534	GM12878	blood:	n/a	n/a
42	CTCF	chr12:40840300-40840450	BJ	skin:	n/a	n/a
43	CTCF	chr12:40840300-40840450	GM12872	blood:	n/a	n/a
44	JUN	chr12:40840228-40840490	HepG2	liver:	n/a	chr12:40840376-40840389
45	CTCF	chr12:40840320-40840470	Caco-2	colon:	n/a	n/a
46	RAD21	chr12:40840280-40840443	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr12:40840300-40840450	HCT-116	colon:	n/a	n/a
48	CTCF	chr12:40840292-40840483	LNCaP	prostate:	n/a	n/a
49	CTCF	chr12:40840320-40840470	Hela-S3	cervix:	n/a	n/a
50	RAD21	chr12:40840225-40840500	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:40719158..40719845-chr12:40839913..40840458,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258167	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1122621	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1122863	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11564109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829565	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835808	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1427262	1.00[JPT][hapmap]
rs1492328	1.00[ASN][1000 genomes]
rs1492329	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1492337	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492338	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128391	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17128401	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17128416	1.00[ASN][1000 genomes]
rs17444709	1.00[JPT][hapmap]
rs17529964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17533153	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17533321	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17589334	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17598093	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17598156	1.00[ASN][1000 genomes]
rs17599001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17600388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1844979	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844982	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873674	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767980	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767983	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4768261	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768265	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768276	0.80[EUR][1000 genomes]
rs4768287	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768288	1.00[ASN][1000 genomes]
rs4768291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55642775	1.00[ASN][1000 genomes]
rs55649806	1.00[ASN][1000 genomes]
rs55818225	1.00[ASN][1000 genomes]
rs56036709	1.00[ASN][1000 genomes]
rs56211973	1.00[ASN][1000 genomes]
rs56226314	1.00[ASN][1000 genomes]
rs56952712	1.00[ASN][1000 genomes]
rs57161116	1.00[ASN][1000 genomes]
rs59005564	1.00[ASN][1000 genomes]
rs59095251	1.00[ASN][1000 genomes]
rs59367732	1.00[ASN][1000 genomes]
rs7309042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs73094611	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100423	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73100426	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73100438	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73106618	1.00[ASN][1000 genomes]
rs73106620	1.00[ASN][1000 genomes]
rs73106623	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110070	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73110091	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73112007	1.00[ASN][1000 genomes]
rs73112026	1.00[ASN][1000 genomes]
rs73114284	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116206	1.00[ASN][1000 genomes]
rs73119908	0.89[ASN][1000 genomes]
rs7959536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7960976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1039272	chr12:40817585-40841318	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv558606	chr12:40837331-40863052	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40839000-40841000	Enhancers	Fetal Heart	heart

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