Variant report

Variant	rs1532970
Chromosome Location	chr2:73031149-73031150
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10204141	0.92[ASN][1000 genomes]
rs11126381	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11126384	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11686536	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11693376	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476137	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12479094	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12615163	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12994646	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13008515	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396107	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1508060	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1508061	0.80[AFR][1000 genomes]
rs1876489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1876490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2068410	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2135982	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2420882	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35666345	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4597553	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4852896	0.82[ASN][1000 genomes]
rs6546787	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6727086	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6744758	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6758539	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6758802	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7583914	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7586339	0.92[ASN][1000 genomes]
rs7586886	0.82[ASN][1000 genomes]
rs7600718	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs970577	1.00[JPT][hapmap];0.87[ASN][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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr2:73014000-73033400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:73016400-73035600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:73016600-73035800	Weak transcription	Left Ventricle	heart
4	chr2:73022400-73042200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:73023400-73035800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:73026600-73035200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:73026800-73035000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:73028000-73035600	Weak transcription	Fetal Intestine Large	intestine
9	chr2:73029600-73034400	Weak transcription	Fetal Brain Male	brain
10	chr2:73029800-73031400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:73029800-73031800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:73030000-73031200	Enhancers	NH-A	brain
13	chr2:73030000-73031400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:73030000-73031400	Enhancers	NHEK	skin
15	chr2:73030000-73031800	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:73030000-73035800	Weak transcription	Esophagus	oesophagus
17	chr2:73030200-73031400	Enhancers	HMEC	breast
18	chr2:73030400-73031200	Enhancers	NHLF	lung
19	chr2:73030600-73031400	Enhancers	Fetal Heart	heart
20	chr2:73030600-73032200	Enhancers	Brain Substantia Nigra	brain
21	chr2:73030600-73040800	Weak transcription	HSMMtube	muscle
22	chr2:73030800-73040800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:73030800-73040800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:73031000-73031200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr2:73031000-73031200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr2:73031000-73031400	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr2:73031000-73031600	Enhancers	Brain Inferior Temporal Lobe	brain

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