Variant report

Variant	rs12083409
Chromosome Location	chr1:67137407-67137408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11208917	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs11208918	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11208919	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11208944	0.93[ASW][hapmap]
rs11208945	0.93[ASW][hapmap]
rs11810644	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11810679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11811511	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11811895	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11811921	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12058115	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12061081	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12061222	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12070181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12070427	0.82[GIH][hapmap]
rs12077193	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12079953	1.00[CHB][hapmap]
rs12092996	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs17129292	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17129327	0.81[YRI][hapmap]
rs17129329	0.94[GIH][hapmap]
rs6695490	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7535237	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs7550661	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
3	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
6	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:67114200-67142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:67114600-67142200	Weak transcription	NHLF	lung
10	chr1:67118800-67138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:67118800-67140400	Weak transcription	Aorta	Aorta
12	chr1:67121200-67145400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:67122000-67141200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:67131800-67141600	Weak transcription	NH-A	brain
15	chr1:67133200-67139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:67133200-67141800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:67135000-67137800	Enhancers	Fetal Brain Male	brain
18	chr1:67135200-67154200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:67135600-67155400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:67135800-67141800	Weak transcription	NHDF-Ad	bronchial
21	chr1:67136400-67137600	Enhancers	Primary B cells from cord blood	blood
22	chr1:67136600-67141600	Weak transcription	Osteobl	bone
23	chr1:67137000-67141800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:67137200-67137800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:67137200-67137800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:67137200-67138000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr1:67137200-67139600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr1:67137400-67140200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:67137400-67148000	Weak transcription	Fetal Brain Female	brain

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