Variant report

Variant	rs13247631
Chromosome Location	chr7:84160718-84160719
allele	A/C
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	KAP1	chr7:84160607-84160813	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPL7P30	TF binding region
ENSG00000235139	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1014907	0.88[EUR][1000 genomes]
rs10252291	0.88[EUR][1000 genomes]
rs10252535	0.88[EUR][1000 genomes]
rs10263739	0.86[EUR][1000 genomes]
rs10265431	0.81[EUR][1000 genomes]
rs10278903	0.87[EUR][1000 genomes]
rs10808307	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10954757	0.84[EUR][1000 genomes]
rs10954758	0.81[EUR][1000 genomes]
rs11496186	0.88[EUR][1000 genomes]
rs11761298	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11765801	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs11974811	0.86[EUR][1000 genomes]
rs11976978	0.81[EUR][1000 genomes]
rs11980222	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154659	0.82[EUR][1000 genomes]
rs12668064	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12669783	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12670015	0.83[ASN][1000 genomes]
rs12674098	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12707656	0.83[EUR][1000 genomes]
rs12707657	0.88[EUR][1000 genomes]
rs13222404	0.87[EUR][1000 genomes]
rs13225152	0.83[ASN][1000 genomes]
rs13225742	0.86[EUR][1000 genomes]
rs13236772	0.81[EUR][1000 genomes]
rs13240278	0.86[EUR][1000 genomes]
rs1541356	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1981528	0.88[EUR][1000 genomes]
rs2023989	0.80[ASN][1000 genomes]
rs2051888	0.95[EUR][1000 genomes]
rs2188987	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2188988	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2190050	0.88[ASN][1000 genomes]
rs2214748	0.88[ASN][1000 genomes]
rs2372172	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2372175	0.88[EUR][1000 genomes]
rs2372399	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2372400	0.88[EUR][1000 genomes]
rs28672750	0.82[EUR][1000 genomes]
rs4130913	0.90[EUR][1000 genomes]
rs4132667	0.88[EUR][1000 genomes]
rs4275166	0.88[EUR][1000 genomes]
rs4291215	0.86[EUR][1000 genomes]
rs4385399	0.82[EUR][1000 genomes]
rs4397345	0.86[EUR][1000 genomes]
rs4416778	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4422706	0.86[EUR][1000 genomes]
rs4433073	0.84[EUR][1000 genomes]
rs4434564	0.96[EUR][1000 genomes]
rs4559166	0.86[EUR][1000 genomes]
rs4644185	0.82[EUR][1000 genomes]
rs4732558	0.95[EUR][1000 genomes]
rs4732570	0.88[EUR][1000 genomes]
rs4732571	0.87[EUR][1000 genomes]
rs4732576	0.81[EUR][1000 genomes]
rs62473016	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6952175	0.80[EUR][1000 genomes]
rs7777832	0.85[EUR][1000 genomes]
rs7780912	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7784312	0.86[EUR][1000 genomes]
rs7785116	0.88[EUR][1000 genomes]
rs7786412	0.86[EUR][1000 genomes]
rs7795440	0.82[EUR][1000 genomes]
rs7795496	0.80[ASN][1000 genomes]
rs7797033	0.82[EUR][1000 genomes]
rs7807002	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs882625	0.88[EUR][1000 genomes]
rs9640951	0.88[EUR][1000 genomes]
rs9642186	0.88[EUR][1000 genomes]
rs9642187	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv607710	chr7:84137622-84168615	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888637	chr7:84137622-84213008	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464620	chr7:84141077-84289915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv607711	chr7:84141077-84289915	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv5821	chr7:84159713-84204468	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84157400-84160800	Enhancers	Hela-S3	cervix
2	chr7:84157600-84162400	Enhancers	Fetal Intestine Small	intestine
3	chr7:84158000-84160800	Enhancers	NHDF-Ad	bronchial
4	chr7:84158200-84161000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:84158400-84162600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:84158600-84161200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr7:84159200-84161000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:84159200-84161000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:84159400-84161200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:84159400-84161400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:84159400-84161400	Enhancers	A549	lung
12	chr7:84159400-84165000	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:84159600-84161400	Weak transcription	Fetal Intestine Large	intestine
14	chr7:84160000-84161200	Weak transcription	NHEK	skin
15	chr7:84160000-84165400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:84160600-84160800	Enhancers	Rectal Smooth Muscle	rectum
17	chr7:84160600-84162200	Enhancers	HUES48 Cell Line	embryonic stem cell

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