Variant report

Variant	rs2346182
Chromosome Location	chr2:153388948-153388949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10168793	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10172230	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10180234	0.85[CHB][hapmap]
rs10182254	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10188611	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10207275	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs10209069	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10211164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10931154	0.87[ASN][1000 genomes]
rs11904088	0.90[ASN][1000 genomes]
rs12612608	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12613219	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619679	0.90[ASN][1000 genomes]
rs12619706	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12622731	0.85[ASN][1000 genomes]
rs13404703	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13427485	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831261	0.82[CHB][hapmap]
rs16831307	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2459776	0.86[CHB][hapmap]
rs2577180	0.86[CHB][hapmap]
rs2577181	0.86[CHB][hapmap]
rs2577182	0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4664592	0.89[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664593	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7421149	0.86[CHB][hapmap]
rs7581544	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7591606	0.82[CHB][hapmap]
rs893331	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9288108	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.93[ASN][1000 genomes]
rs9967814	0.82[CHB][hapmap]

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	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153376600-153390600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:153382400-153393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:153382400-153398800	Weak transcription	Fetal Intestine Small	intestine
5	chr2:153383000-153390800	Weak transcription	Ovary	ovary
6	chr2:153383000-153391000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:153383000-153391200	Weak transcription	Aorta	Aorta
8	chr2:153383000-153392000	Weak transcription	Lung	lung
9	chr2:153383000-153403000	Weak transcription	Right Atrium	heart
10	chr2:153383200-153393200	Weak transcription	NHEK	skin
11	chr2:153383600-153391400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:153384000-153398200	Weak transcription	HMEC	breast
13	chr2:153385600-153390600	Weak transcription	HepG2	liver
14	chr2:153386200-153399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:153386200-153399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:153386600-153391400	Weak transcription	Brain Angular Gyrus	brain
17	chr2:153386800-153390600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:153386800-153392200	Weak transcription	Fetal Stomach	stomach
19	chr2:153386800-153400000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:153387000-153390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:153387000-153390600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:153387000-153391000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:153387000-153392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:153387600-153389000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:153387600-153390800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:153387600-153392800	Weak transcription	Fetal Kidney	kidney
27	chr2:153388000-153390600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:153388000-153390800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:153388200-153389800	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:153388200-153390400	Weak transcription	Brain Substantia Nigra	brain
31	chr2:153388400-153389000	Enhancers	NHDF-Ad	bronchial
32	chr2:153388400-153390400	Weak transcription	Brain Anterior Caudate	brain
33	chr2:153388800-153389000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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