Variant report

Variant	rs10743807
Chromosome Location	chr12:33070214-33070215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10772014	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10772015	1.00[EUR][1000 genomes]
rs10772016	1.00[EUR][1000 genomes]
rs11052313	1.00[EUR][1000 genomes]
rs11052314	1.00[EUR][1000 genomes]
rs2045171	0.90[CHB][hapmap]
rs4244862	1.00[EUR][1000 genomes]
rs4394915	1.00[EUR][1000 genomes]
rs4420362	0.90[CHB][hapmap]
rs4931053	1.00[EUR][1000 genomes]
rs4931661	1.00[EUR][1000 genomes]
rs4931667	1.00[EUR][1000 genomes]
rs4931668	1.00[EUR][1000 genomes]
rs4931680	1.00[EUR][1000 genomes]
rs6488104	0.98[ASN][1000 genomes]
rs6488107	1.00[EUR][1000 genomes]
rs7133084	1.00[EUR][1000 genomes]
rs7962019	1.00[EUR][1000 genomes]
rs7965208	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33062000-33072400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:33069400-33071000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:33069400-33072000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:33069400-33075200	Enhancers	Hela-S3	cervix
5	chr12:33069600-33071200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:33069600-33076400	Enhancers	HMEC	breast
7	chr12:33069800-33070400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:33069800-33070600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:33069800-33071000	Enhancers	NHEK	skin
10	chr12:33069800-33071200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:33070000-33070800	Enhancers	NH-A	brain
12	chr12:33070000-33074800	Weak transcription	HSMM	muscle
13	chr12:33070200-33070800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:33070200-33072200	Weak transcription	HepG2	liver
15	chr12:33070200-33074600	Weak transcription	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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