Variant report

Variant	rs10506464
Chromosome Location	chr12:64209976-64209977
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	chr12:64203594..64206591-chr12:64207815..64211076,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11175189	0.82[CHB][hapmap]
rs11833808	0.86[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs11835034	0.87[CHB][hapmap]
rs12228199	0.87[CHB][hapmap]
rs12578835	0.86[JPT][hapmap]
rs12579795	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs17099866	0.83[ASN][1000 genomes]
rs35143986	0.87[CHB][hapmap]
rs4072758	0.87[ASN][1000 genomes]
rs4497499	0.81[CEU][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs55655348	0.87[ASN][1000 genomes]
rs55760535	0.83[ASN][1000 genomes]
rs55930806	0.87[ASN][1000 genomes]
rs56264182	0.83[ASN][1000 genomes]
rs59063572	0.82[ASN][1000 genomes]
rs60031756	0.83[ASN][1000 genomes]
rs67684483	0.83[ASN][1000 genomes]
rs68188132	0.83[ASN][1000 genomes]
rs7136130	0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7294327	0.87[CHB][hapmap]
rs7302672	0.83[CEU][hapmap];0.86[ASN][1000 genomes]
rs7304340	0.87[CHB][hapmap]
rs7305893	0.82[ASN][1000 genomes]
rs7307108	0.83[CEU][hapmap];0.87[ASN][1000 genomes]
rs7308850	0.95[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310327	0.86[CHB][hapmap]
rs7310329	0.87[ASN][1000 genomes]
rs7311353	0.83[EUR][1000 genomes]
rs7311611	0.87[ASN][1000 genomes]
rs73313479	0.83[ASN][1000 genomes]
rs7953208	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64189400-64215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:64200400-64211800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:64201000-64215600	Weak transcription	Gastric	stomach
4	chr12:64202200-64215400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:64202800-64215600	Weak transcription	Pancreas	Pancrea
6	chr12:64203400-64215800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:64203800-64215400	Weak transcription	Fetal Thymus	thymus
8	chr12:64206800-64210200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:64208000-64210000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:64208000-64210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:64208200-64210200	Enhancers	Liver	Liver
12	chr12:64208800-64215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:64209000-64210200	Enhancers	Primary T cells from cord blood	blood
14	chr12:64209000-64210200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:64209200-64210000	Enhancers	A549	lung
16	chr12:64209400-64210000	Enhancers	Brain Germinal Matrix	brain
17	chr12:64209600-64210000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:64209600-64210200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr12:64209800-64210000	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:64209800-64210000	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:64209800-64210200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr12:64209800-64210200	Enhancers	GM12878-XiMat	blood

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