Variant report

Variant	rs4667229
Chromosome Location	chr2:189339333-189339334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189336721..189339436-chr2:189342195..189344064,2	MCF-7	breast:
2	chr2:189338353..189340295-chr2:189347852..189349635,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10175838	1.00[JPT][hapmap]
rs10180000	1.00[JPT][hapmap]
rs10189197	1.00[JPT][hapmap]
rs10199260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10209424	1.00[JPT][hapmap]
rs10211141	0.84[EUR][1000 genomes]
rs10469734	1.00[JPT][hapmap]
rs10469735	1.00[JPT][hapmap]
rs10804021	1.00[JPT][hapmap]
rs10931363	1.00[JPT][hapmap]
rs11695316	1.00[JPT][hapmap]
rs12463744	1.00[JPT][hapmap]
rs12475894	1.00[JPT][hapmap]
rs12476413	1.00[JPT][hapmap]
rs12693490	1.00[JPT][hapmap]
rs12693491	1.00[JPT][hapmap]
rs12693493	1.00[JPT][hapmap]
rs12693497	1.00[JPT][hapmap]
rs12995727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13003972	1.00[JPT][hapmap]
rs13025659	1.00[JPT][hapmap]
rs13032231	1.00[JPT][hapmap]
rs13382200	1.00[JPT][hapmap]
rs13386959	1.00[JPT][hapmap]
rs13390401	1.00[JPT][hapmap]
rs13392850	1.00[JPT][hapmap]
rs13393057	1.00[JPT][hapmap]
rs13394232	1.00[JPT][hapmap]
rs13396968	1.00[JPT][hapmap]
rs13397653	1.00[JPT][hapmap]
rs13403228	1.00[JPT][hapmap]
rs13412448	1.00[JPT][hapmap]
rs13414327	1.00[JPT][hapmap]
rs13418031	1.00[JPT][hapmap]
rs13429075	1.00[JPT][hapmap]
rs1354902	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1354904	1.00[JPT][hapmap]
rs1354910	1.00[JPT][hapmap]
rs1507551	1.00[JPT][hapmap]
rs1567184	1.00[JPT][hapmap]
rs2004888	1.00[JPT][hapmap]
rs34353529	1.00[JPT][hapmap]
rs4128404	1.00[JPT][hapmap]
rs4423571	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453658	1.00[JPT][hapmap]
rs4667219	1.00[JPT][hapmap]
rs4667220	1.00[JPT][hapmap]
rs4667231	1.00[JPT][hapmap]
rs57943055	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58633000	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102741	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6434277	1.00[JPT][hapmap]
rs6707212	1.00[JPT][hapmap]
rs6709557	1.00[JPT][hapmap]
rs6718697	1.00[JPT][hapmap]
rs6720983	1.00[JPT][hapmap]
rs6744275	1.00[JPT][hapmap]
rs6756504	1.00[JPT][hapmap]
rs7419798	1.00[JPT][hapmap]
rs7420808	1.00[JPT][hapmap]
rs7422739	1.00[JPT][hapmap]
rs7423554	1.00[JPT][hapmap]
rs7569960	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571197	1.00[JPT][hapmap]
rs7571494	1.00[JPT][hapmap]
rs7573579	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582643	1.00[JPT][hapmap]
rs7587596	1.00[JPT][hapmap]
rs7602180	1.00[JPT][hapmap]
rs9288151	1.00[JPT][hapmap]
rs9288152	1.00[JPT][hapmap]
rs9288153	1.00[JPT][hapmap]
rs9808523	1.00[JPT][hapmap]
rs9808557	1.00[JPT][hapmap]

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	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189319400-189343400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189329000-189340600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:189330600-189346800	Weak transcription	Gastric	stomach
5	chr2:189330600-189356600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:189334600-189367600	Weak transcription	Fetal Lung	lung
7	chr2:189335800-189343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:189336600-189344000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:189337600-189339600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:189337800-189339800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:189338000-189339400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:189338000-189339400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:189338000-189339400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:189338000-189340600	Weak transcription	NHLF	lung
15	chr2:189338600-189339400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:189338600-189340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:189338600-189340800	Weak transcription	Pancreas	Pancrea
18	chr2:189338600-189360600	Weak transcription	Ovary	ovary
19	chr2:189338800-189339400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:189338800-189339400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:189339000-189339400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:189339000-189339400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:189339000-189339400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:189339000-189339400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:189339000-189341200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:189339000-189341200	Enhancers	HUVEC	blood vessel
27	chr2:189339000-189341600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:189339200-189349400	Weak transcription	Aorta	Aorta

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