Variant report

Variant	rs12831006
Chromosome Location	chr12:48328454-48328455
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48323727..48326429-chr12:48327724..48330731,3	K562	blood:
2	chr12:48298644..48301477-chr12:48327051..48330192,3	MCF-7	breast:
3	chr12:48325022..48326830-chr12:48326886..48329011,2	MCF-7	breast:
4	chr12:48327444..48330329-chr12:48343554..48345699,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111424	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10747527	0.82[JPT][hapmap]
rs10783221	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10875703	0.86[EUR][1000 genomes]
rs10875704	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10875705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875706	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875707	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875708	0.81[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875709	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168307	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11168308	0.85[EUR][1000 genomes]
rs11168310	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168311	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168313	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168314	0.80[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168315	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168316	0.81[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168318	0.81[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168319	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168320	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12306963	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12316950	0.86[EUR][1000 genomes]
rs34381446	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4411326	0.81[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61920869	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61920870	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7300028	0.87[EUR][1000 genomes]
rs7300088	0.85[EUR][1000 genomes]
rs7300301	0.85[EUR][1000 genomes]
rs7303966	0.83[EUR][1000 genomes]
rs7305180	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7308216	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7975675	0.90[EUR][1000 genomes];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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48325800-48328800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48327600-48328600	Enhancers	HSMMtube	muscle
3	chr12:48328000-48329400	Enhancers	Fetal Muscle Trunk	muscle
4	chr12:48328000-48330000	Enhancers	Fetal Muscle Leg	muscle
5	chr12:48328400-48328600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:48328400-48328600	Bivalent Enhancer	NHLF	lung
7	chr12:48328400-48328800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:48328400-48329600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:48328400-48329800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:48328400-48329800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:48328400-48329800	Enhancers	Placenta	Placenta
12	chr12:48328400-48329800	Enhancers	HSMM	muscle
13	chr12:48328400-48329800	Enhancers	NHDF-Ad	bronchial
14	chr12:48328400-48337800	Enhancers	Fetal Heart	heart

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