Variant report

Variant	rs6717512
Chromosome Location	chr2:187567638-187567639
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187560603..187562603-chr2:187566920..187568665,2	MCF-7	breast:
2	chr2:187566620..187569156-chr2:187571445..187573222,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10804007	0.83[CHB][hapmap]
rs11678190	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11683898	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685758	1.00[CHB][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12151442	1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12615659	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12998294	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13001028	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13006483	1.00[CHB][hapmap]
rs13006571	0.83[CHB][hapmap]
rs13016261	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13027560	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13028817	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13030356	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13033579	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1448424	1.00[CHB][hapmap]
rs17334303	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17334422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17750683	0.82[JPT][hapmap]
rs1839123	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1839124	0.87[ASN][1000 genomes]
rs1992898	0.83[CHB][hapmap]
rs2084448	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2197138	0.83[CHB][hapmap]
rs2197787	0.82[CHB][hapmap]
rs2370693	0.83[CHB][hapmap]
rs2595375	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[EUR][1000 genomes]
rs2887827	0.83[CHB][hapmap]
rs34483988	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34521209	0.86[ASN][1000 genomes]
rs35055112	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35251833	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35986780	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36117902	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768778	0.83[CHB][hapmap]
rs3816386	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3911084	0.83[CHB][hapmap]
rs4233788	0.83[CHB][hapmap]
rs58644770	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6741369	0.83[CHB][hapmap]
rs7419327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7589470	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7593018	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9333288	0.83[CHB][hapmap]
rs9333289	1.00[CHB][hapmap]
rs9789682	0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs998972	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
5	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:187563000-187570200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:187563600-187570000	Weak transcription	Fetal Brain Male	brain
8	chr2:187564200-187570000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:187564800-187569400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:187565000-187570000	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:187566000-187568000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:187566800-187568400	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:187567000-187568000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:187567000-187574800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:187567200-187569600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:187567400-187567800	Weak transcription	Brain Angular Gyrus	brain
17	chr2:187567400-187567800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:187567400-187568000	Weak transcription	Fetal Kidney	kidney
19	chr2:187567400-187569200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:187567400-187581400	Weak transcription	Fetal Brain Female	brain

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