Variant report

Variant	rs7592281
Chromosome Location	chr2:234602641-234602642
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234599124..234606471-chr2:234613478..234621007,17	MCF-7	breast:
2	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:
3	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
4	chr2:234393680..234401613-chr2:234597738..234605139,18	MCF-7	breast:
5	chr2:234597435..234606028-chr2:234613419..234620116,22	MCF-7	breast:
6	chr2:234387197..234390730-chr2:234600088..234603557,3	MCF-7	breast:
7	chr2:234355853..234357392-chr2:234601737..234604100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224814	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10167119	0.86[ASN][1000 genomes]
rs10168155	0.82[ASN][1000 genomes]
rs10168333	0.82[ASN][1000 genomes]
rs10168416	0.87[ASN][1000 genomes]
rs10171367	0.82[ASN][1000 genomes]
rs10173355	0.87[ASN][1000 genomes]
rs10175809	0.82[ASN][1000 genomes]
rs10179094	0.87[ASN][1000 genomes]
rs10189426	1.00[CEU][hapmap];0.98[ASN][1000 genomes]
rs10197460	0.86[ASN][1000 genomes]
rs10203266	0.82[ASN][1000 genomes]
rs10445704	0.82[ASN][1000 genomes]
rs1105879	0.82[ASN][1000 genomes]
rs1105880	0.82[ASN][1000 genomes]
rs11680450	0.82[ASN][1000 genomes]
rs11692021	0.87[ASN][1000 genomes]
rs11692664	0.86[ASN][1000 genomes]
rs11902131	0.82[ASN][1000 genomes]
rs12615708	1.00[CEU][hapmap];0.98[ASN][1000 genomes]
rs12623271	0.82[ASN][1000 genomes]
rs13002774	0.82[ASN][1000 genomes]
rs13015720	0.82[ASN][1000 genomes]
rs2070959	0.87[ASN][1000 genomes]
rs3806598	0.98[ASN][1000 genomes]
rs4261716	0.82[ASN][1000 genomes]
rs4338954	0.82[ASN][1000 genomes]
rs4347832	0.82[ASN][1000 genomes]
rs4530361	0.86[ASN][1000 genomes]
rs4553819	0.82[ASN][1000 genomes]
rs45615240	0.82[ASN][1000 genomes]
rs6736508	0.82[ASN][1000 genomes]
rs6736743	0.82[ASN][1000 genomes]
rs6753320	0.82[ASN][1000 genomes]
rs6753569	0.82[ASN][1000 genomes]
rs6759892	0.82[ASN][1000 genomes]
rs7349250	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7563561	0.82[ASN][1000 genomes]
rs7571915	0.86[ASN][1000 genomes]
rs7577677	0.86[ASN][1000 genomes]
rs7586110	0.86[ASN][1000 genomes]
rs7608175	0.82[ASN][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr2:234597800-234608600	Weak transcription	Gastric	stomach
2	chr2:234599400-234608000	Weak transcription	HUVEC	blood vessel
3	chr2:234600400-234608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:234600800-234603000	Weak transcription	Right Atrium	heart
5	chr2:234601400-234603000	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:234601600-234602800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr2:234601600-234603600	Flanking Active TSS	Liver	Liver
8	chr2:234602000-234602800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:234602000-234602800	Enhancers	Esophagus	oesophagus
10	chr2:234602000-234603000	Transcr. at gene 5' and 3'	NHEK	skin
11	chr2:234602000-234603200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:234602200-234607600	Weak transcription	Pancreas	Pancrea
13	chr2:234602400-234602800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:234602400-234604200	Enhancers	HepG2	liver
15	chr2:234602400-234604400	Enhancers	Hela-S3	cervix
16	chr2:234602600-234602800	Flanking Active TSS	A549	lung
17	chr2:234602600-234603400	Enhancers	Stomach Mucosa	stomach

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