Variant report

Variant	rs334037
Chromosome Location	chr2:179092195-179092196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179087693..179089366-chr2:179091753..179093741,2	K562	blood:
2	chr2:179090398..179094445-chr2:179099557..179102504,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs101266	0.88[JPT][hapmap]
rs10197166	0.82[JPT][hapmap]
rs10930827	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12185670	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs13029471	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13403689	0.80[JPT][hapmap]
rs147180	0.88[JPT][hapmap]
rs186736	0.87[JPT][hapmap]
rs2366157	0.87[JPT][hapmap]
rs333992	0.81[JPT][hapmap]
rs333993	0.81[JPT][hapmap]
rs333997	0.89[JPT][hapmap]
rs334024	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs334028	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs334029	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs334035	0.82[JPT][hapmap]
rs334040	0.80[JPT][hapmap]
rs334041	0.87[JPT][hapmap]
rs334042	0.80[JPT][hapmap]
rs334043	0.88[JPT][hapmap]
rs334044	0.87[JPT][hapmap]
rs334045	0.80[JPT][hapmap]
rs334102	0.80[JPT][hapmap]
rs334103	0.80[JPT][hapmap]
rs334110	0.80[JPT][hapmap]
rs551368	0.88[JPT][hapmap]
rs6719178	0.87[JPT][hapmap]
rs7419749	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7581504	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:179084600-179094800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:179088800-179095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:179089000-179092400	Enhancers	NH-A	brain
5	chr2:179089200-179092600	Enhancers	HSMM	muscle
6	chr2:179090200-179094200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:179090400-179092200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:179090600-179094200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:179090800-179095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:179091000-179106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:179091200-179092600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:179091200-179101200	Weak transcription	Psoas Muscle	Psoas
13	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
14	chr2:179091600-179092400	Enhancers	NHEK	skin
15	chr2:179091600-179092800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:179091800-179092200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:179091800-179092200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:179091800-179092200	Enhancers	NHDF-Ad	bronchial
19	chr2:179091800-179092400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:179091800-179092400	Enhancers	HUVEC	blood vessel
21	chr2:179091800-179092400	Enhancers	Osteobl	bone
22	chr2:179091800-179092600	Enhancers	HMEC	breast
23	chr2:179092000-179092800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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