Variant report

Variant	rs7422739
Chromosome Location	chr2:189372265-189372266
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189366557..189368547-chr2:189369752..189373297,3	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10153688	0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs10185750	0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs10189197	1.00[JPT][hapmap]
rs10199260	1.00[JPT][hapmap]
rs10804021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10931363	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11685238	1.00[ASN][1000 genomes]
rs11695316	1.00[JPT][hapmap]
rs11902664	1.00[ASN][1000 genomes]
rs12463744	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12475894	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12476413	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12693497	1.00[JPT][hapmap]
rs12995727	1.00[JPT][hapmap]
rs12997039	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13005128	0.90[AFR][1000 genomes]
rs13025659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13032231	1.00[JPT][hapmap]
rs13386959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs13392850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[ASN][1000 genomes]
rs13393057	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13396968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs13397653	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs13412448	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13414327	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13418031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs1354902	1.00[JPT][hapmap]
rs1354904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1354910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1507551	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1567184	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs4128404	1.00[JPT][hapmap]
rs4453658	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4667219	1.00[JPT][hapmap]
rs4667220	1.00[JPT][hapmap]
rs4667229	1.00[JPT][hapmap]
rs4667231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55663622	1.00[ASN][1000 genomes]
rs6414119	1.00[ASN][1000 genomes]
rs6434277	1.00[JPT][hapmap]
rs6434285	1.00[ASN][1000 genomes]
rs6434286	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6707212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6709557	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6720983	1.00[JPT][hapmap]
rs6722940	1.00[ASN][1000 genomes]
rs6744275	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs6756504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7419798	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7420808	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7422239	0.84[AFR][1000 genomes]
rs7423554	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7424421	1.00[ASN][1000 genomes]
rs7571197	1.00[JPT][hapmap]
rs7571494	1.00[JPT][hapmap]
rs7582643	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs7587596	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7602180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8273	1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[MEX][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:189355800-189382400	Weak transcription	Gastric	stomach
4	chr2:189356400-189373600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:189359200-189382200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:189361800-189392000	Weak transcription	Ovary	ovary
7	chr2:189362800-189382200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:189367800-189382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:189368600-189376200	Weak transcription	Fetal Lung	lung
10	chr2:189370000-189373200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:189370400-189379400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:189371600-189376800	Weak transcription	Fetal Kidney	kidney
13	chr2:189371800-189380200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:189371800-189382200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:189371800-189394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:189372000-189374000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:189372000-189376000	Weak transcription	Aorta	Aorta
18	chr2:189372000-189380200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:189372000-189380800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:189372200-189375800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:189372200-189382200	Weak transcription	Colon Smooth Muscle	Colon

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