Variant report

Variant	rs12501179
Chromosome Location	chr4:126323466-126323467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10014217	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10084892	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11939811	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11944077	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12498276	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12504612	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12511204	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12512105	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17009520	0.86[CHB][hapmap];0.85[CHD][hapmap]
rs17009618	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17009635	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17009673	0.93[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[ASN][1000 genomes]
rs2710557	0.86[CHB][hapmap]
rs2710562	0.85[CHB][hapmap]
rs2710563	0.86[CHB][hapmap]
rs2710593	0.89[EUR][1000 genomes]
rs4272024	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4833325	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58972262	0.93[ASN][1000 genomes]
rs59208392	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6830885	0.86[CHB][hapmap]
rs6840704	0.91[ASN][1000 genomes]
rs73849218	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73849222	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73849223	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs885271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9968420	1.00[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
2	chr4:126310800-126336000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:126311600-126336000	Weak transcription	Aorta	Aorta
4	chr4:126311800-126341800	Weak transcription	Fetal Heart	heart
5	chr4:126311800-126343600	Weak transcription	Fetal Stomach	stomach
6	chr4:126312000-126338200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:126312000-126354400	Weak transcription	HSMM	muscle
8	chr4:126312200-126342800	Weak transcription	NHLF	lung
9	chr4:126316000-126329200	Weak transcription	NHDF-Ad	bronchial
10	chr4:126316600-126354600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:126316800-126336200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:126318000-126336200	Weak transcription	Fetal Brain Male	brain
13	chr4:126319000-126338000	Weak transcription	Fetal Brain Female	brain
14	chr4:126319000-126343800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:126319800-126336200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:126320000-126332000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:126320000-126343400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:126320200-126328000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:126320200-126329200	Weak transcription	HUVEC	blood vessel
20	chr4:126320200-126336400	Weak transcription	Adipose Nuclei	Adipose
21	chr4:126320200-126354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:126320600-126344400	Weak transcription	Lung	lung
23	chr4:126320800-126330800	Weak transcription	Fetal Kidney	kidney
24	chr4:126323000-126323600	Enhancers	Stomach Smooth Muscle	stomach
25	chr4:126323000-126326000	Weak transcription	Fetal Lung	lung
26	chr4:126323200-126323600	Enhancers	Colon Smooth Muscle	Colon
27	chr4:126323200-126324000	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:126323200-126328600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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