Variant report

Variant	rs12700012
Chromosome Location	chr7:18933520-18933521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10228341	0.87[EUR][1000 genomes]
rs10235695	1.00[EUR][1000 genomes]
rs10252839	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10253169	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10265632	0.87[EUR][1000 genomes]
rs10266268	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10268296	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10268558	1.00[EUR][1000 genomes]
rs10277107	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10281987	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10282165	1.00[EUR][1000 genomes]
rs10441036	1.00[EUR][1000 genomes]
rs10441039	0.87[EUR][1000 genomes]
rs10486312	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12113191	0.87[EUR][1000 genomes]
rs12699997	1.00[EUR][1000 genomes]
rs12700004	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12700005	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12700006	1.00[EUR][1000 genomes]
rs12700009	1.00[EUR][1000 genomes]
rs12700011	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13221164	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13224263	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13224833	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13234557	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13235810	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13237090	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13238305	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13238702	1.00[EUR][1000 genomes]
rs13239170	1.00[EUR][1000 genomes]
rs13241140	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13438582	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16872130	1.00[EUR][1000 genomes]
rs17140149	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17140158	1.00[EUR][1000 genomes]
rs17140170	1.00[EUR][1000 genomes]
rs17140193	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17140198	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17140227	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34018423	1.00[EUR][1000 genomes]
rs34098679	1.00[EUR][1000 genomes]
rs34302776	1.00[EUR][1000 genomes]
rs34790980	1.00[EUR][1000 genomes]
rs34896059	1.00[EUR][1000 genomes]
rs35057182	1.00[EUR][1000 genomes]
rs35074349	1.00[EUR][1000 genomes]
rs35334608	1.00[EUR][1000 genomes]
rs35692319	1.00[EUR][1000 genomes]
rs4445123	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs71524253	1.00[EUR][1000 genomes]
rs71524257	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7808375	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7809412	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7811828	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv523497	chr7:18896011-18959381	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2756248	chr7:18911960-18977760	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1030062	chr7:18915874-18943409	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887815	chr7:18931219-18958942	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18903000-18940000	Weak transcription	Aorta	Aorta
2	chr7:18930000-18934400	Weak transcription	Osteobl	bone
3	chr7:18930000-18934800	Weak transcription	HUVEC	blood vessel
4	chr7:18930200-18934800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:18930800-18934600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:18931000-18934600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:18931200-18934400	Weak transcription	NHLF	lung
8	chr7:18931200-18943400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:18931400-18934200	Weak transcription	NHDF-Ad	bronchial
10	chr7:18931400-18934600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:18931400-18940000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:18931600-18934400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:18932600-18935200	Enhancers	NHEK	skin
14	chr7:18932800-18935200	Enhancers	HMEC	breast
15	chr7:18933400-18933800	Enhancers	Fetal Heart	heart

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