Variant report

Variant	rs4423250
Chromosome Location	chr12:40715590-40715591
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	chr12:40715339..40716976-chr12:40720060..40722353,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10506152	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175766	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11175780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs11564129	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs11564149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs11564180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388599	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1491937	1.00[YRI][hapmap]
rs17444089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466080	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17466178	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs17466185	0.92[EUR][1000 genomes]
rs17466486	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17466521	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17466626	1.00[CHB][hapmap]
rs17519881	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2046928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs2404574	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2404834	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs41286474	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132073	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136434	1.00[YRI][hapmap]
rs73102746	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7971935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
2	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
3	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:40674400-40760400	Weak transcription	Lung	lung
5	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:40699600-40721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40704400-40723800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:40705600-40722400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:40706800-40722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:40707000-40719000	Weak transcription	A549	lung
16	chr12:40707800-40724400	Strong transcription	Primary B cells from cord blood	blood
17	chr12:40709600-40721400	Weak transcription	Ovary	ovary
18	chr12:40709800-40721600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:40709800-40722400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:40710000-40721200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:40712000-40736600	Weak transcription	Left Ventricle	heart
22	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
23	chr12:40712400-40721800	Weak transcription	Adipose Nuclei	Adipose
24	chr12:40714200-40716200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:40714400-40717000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:40715200-40718000	Strong transcription	Liver	Liver

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