Variant report

Variant	rs839139
Chromosome Location	chr12:86532088-86532089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10776954	0.84[CEU][hapmap]
rs10779236	1.00[YRI][hapmap]
rs10858411	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10858412	0.84[CEU][hapmap]
rs10863164	1.00[YRI][hapmap]
rs1097997	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11117162	0.84[CEU][hapmap]
rs11117189	1.00[CHB][hapmap]
rs1389292	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs1389294	0.83[CEU][hapmap]
rs1463750	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs1493414	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs1493417	0.84[CEU][hapmap]
rs1493418	0.84[CEU][hapmap]
rs1532263	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs1628799	0.89[CEU][hapmap]
rs1689364	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs1698757	1.00[CHB][hapmap]
rs2405934	0.84[CEU][hapmap]
rs2406128	0.84[CEU][hapmap]
rs2452803	0.84[CEU][hapmap]
rs2452805	0.83[CEU][hapmap]
rs2452808	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2471565	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs6538021	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs6538023	0.88[CEU][hapmap]
rs6538027	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs7294859	1.00[YRI][hapmap]
rs7312245	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs7965726	1.00[YRI][hapmap]
rs839091	1.00[YRI][hapmap]
rs839094	0.86[EUR][1000 genomes]
rs839099	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs839100	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs839106	1.00[CHB][hapmap]
rs839107	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs839109	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs839112	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs839113	1.00[CHB][hapmap]
rs839114	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs839115	1.00[CHB][hapmap]
rs839116	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs839117	1.00[CEU][hapmap]
rs839119	1.00[CHB][hapmap]
rs839120	1.00[CHB][hapmap]
rs839124	1.00[CHB][hapmap]
rs839128	1.00[CHB][hapmap]
rs839134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs839138	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs839147	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs839162	0.84[CEU][hapmap]
rs839183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs839186	0.92[EUR][1000 genomes]
rs839187	0.92[EUR][1000 genomes]
rs839189	1.00[CHB][hapmap]
rs839191	1.00[CHB][hapmap]
rs844433	0.90[CEU][hapmap]
rs844437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs858213	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs866893	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv470311	chr12:86484366-86550783	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2753278	chr12:86522507-86555154	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86529800-86538800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:86530400-86538800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:86531000-86532800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:86531000-86532800	Enhancers	NHEK	skin
5	chr12:86531200-86532200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:86531200-86533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:86531200-86533000	Enhancers	HUVEC	blood vessel
8	chr12:86531400-86532200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:86531400-86532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:86531400-86532800	Enhancers	HMEC	breast
11	chr12:86531400-86532800	Enhancers	HSMM	muscle
12	chr12:86531600-86532200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:86531600-86533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:86531800-86532200	Enhancers	A549	lung
15	chr12:86531800-86534200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:86532000-86532400	Weak transcription	NH-A	brain
17	chr12:86532000-86532600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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