Variant report

Variant	rs7315531
Chromosome Location	chr12:83220039-83220040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83217943..83220589-chr12:83226271..83227782,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10047600	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10047619	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10082955	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10083084	1.00[ASN][1000 genomes]
rs10506882	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10778911	1.00[ASN][1000 genomes]
rs10778912	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778913	1.00[ASN][1000 genomes]
rs10862502	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10862503	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10862504	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs10862505	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10862506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10862507	1.00[ASN][1000 genomes]
rs10862511	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs10862512	1.00[ASN][1000 genomes]
rs10862513	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115388	1.00[CHB][hapmap]
rs11115389	1.00[ASN][1000 genomes]
rs11115390	1.00[ASN][1000 genomes]
rs11115391	1.00[ASN][1000 genomes]
rs11115392	1.00[ASN][1000 genomes]
rs11115393	1.00[ASN][1000 genomes]
rs11115396	1.00[ASN][1000 genomes]
rs11115397	1.00[ASN][1000 genomes]
rs11115398	1.00[ASN][1000 genomes]
rs11115400	1.00[ASN][1000 genomes]
rs11115403	1.00[ASN][1000 genomes]
rs11115404	1.00[ASN][1000 genomes]
rs11115405	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115406	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115407	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115408	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115409	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11115411	1.00[ASN][1000 genomes]
rs11115412	1.00[ASN][1000 genomes]
rs11115413	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11115414	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115416	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11115418	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11115430	1.00[ASN][1000 genomes]
rs11115431	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115433	1.00[ASN][1000 genomes]
rs11115434	1.00[ASN][1000 genomes]
rs11115435	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115437	1.00[ASN][1000 genomes]
rs11115445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115446	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115449	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609468	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11830781	1.00[ASN][1000 genomes]
rs11835207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836973	1.00[CHB][hapmap]
rs12146872	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12296710	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304482	1.00[ASN][1000 genomes]
rs12305861	1.00[ASN][1000 genomes]
rs12305927	1.00[ASN][1000 genomes]
rs12307933	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12308668	1.00[ASN][1000 genomes]
rs12311396	1.00[CHB][hapmap]
rs12313857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317459	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12320924	1.00[ASN][1000 genomes]
rs12369186	1.00[ASN][1000 genomes]
rs12369671	1.00[ASN][1000 genomes]
rs12370453	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12370719	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17010057	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs17010061	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs1858059	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58129519	1.00[ASN][1000 genomes]
rs6539689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6539693	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132287	1.00[ASN][1000 genomes]
rs7133916	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7295371	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7296213	1.00[CHB][hapmap]
rs7299047	1.00[ASN][1000 genomes]
rs7299341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303906	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7308736	1.00[ASN][1000 genomes]
rs7310087	1.00[ASN][1000 genomes]
rs7312288	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7314736	0.81[EUR][1000 genomes]
rs7315215	1.00[CHB][hapmap]
rs7315880	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957412	0.82[MEX][hapmap]
rs7979743	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv899351	chr12:83166956-83220039	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2756046	chr12:83166956-83245838	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv2755875	chr12:83166956-83248605	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv2752707	chr12:83168113-83245838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv2753376	chr12:83168113-83245838	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	esv2754178	chr12:83168113-83245838	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv559551	chr12:83168616-83220039	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	nsv559552	chr12:83168616-83225174	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:83206600-83250000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83210400-83222600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr12:83210400-83223600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:83211800-83225600	Weak transcription	Fetal Kidney	kidney
7	chr12:83211800-83229000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:83212400-83257000	Weak transcription	Gastric	stomach
9	chr12:83212600-83229000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:83214200-83250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:83215600-83221600	Weak transcription	Fetal Stomach	stomach
12	chr12:83216800-83220200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:83216800-83240000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:83217200-83221400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83218600-83220200	Enhancers	Brain Substantia Nigra	brain
16	chr12:83218800-83220600	Weak transcription	Esophagus	oesophagus
17	chr12:83219400-83221200	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:83219400-83226800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:83219800-83220400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:83219800-83220600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:83219800-83222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:83219800-83225800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:83219800-83226800	Weak transcription	Brain Angular Gyrus	brain
24	chr12:83220000-83220200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr12:83220000-83221200	Enhancers	Fetal Lung	lung

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