Variant report

Variant	rs12079812
Chromosome Location	chr1:210069056-210069057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10779520	1.00[EUR][1000 genomes]
rs10863796	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10863801	1.00[EUR][1000 genomes]
rs10863806	1.00[EUR][1000 genomes]
rs11119360	1.00[EUR][1000 genomes]
rs11119361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11119362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119372	1.00[EUR][1000 genomes]
rs11119391	1.00[EUR][1000 genomes]
rs11119401	1.00[EUR][1000 genomes]
rs12057832	1.00[EUR][1000 genomes]
rs12064990	1.00[EUR][1000 genomes]
rs12065575	1.00[EUR][1000 genomes]
rs12069592	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12089449	1.00[EUR][1000 genomes]
rs12094309	1.00[EUR][1000 genomes]
rs12401574	1.00[EUR][1000 genomes]
rs12403002	1.00[EUR][1000 genomes]
rs12403098	1.00[EUR][1000 genomes]
rs12407647	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12408689	1.00[EUR][1000 genomes]
rs12409069	1.00[EUR][1000 genomes]
rs2038052	1.00[EUR][1000 genomes]
rs2130625	1.00[EUR][1000 genomes]
rs4844498	1.00[EUR][1000 genomes]
rs4844507	1.00[EUR][1000 genomes]
rs4844924	1.00[EUR][1000 genomes]
rs4844928	1.00[EUR][1000 genomes]
rs4844936	1.00[EUR][1000 genomes]
rs9787400	1.00[EUR][1000 genomes]
rs9919217	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1821635	chr1:210068117-210085756	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210066600-210070800	Enhancers	NHEK	skin
2	chr1:210066800-210070800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:210066800-210070800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:210067200-210069600	Weak transcription	HSMMtube	muscle
5	chr1:210067400-210069600	Weak transcription	NHDF-Ad	bronchial
6	chr1:210067600-210071000	Enhancers	HMEC	breast
7	chr1:210067800-210071000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:210068000-210069400	Enhancers	NH-A	brain
9	chr1:210068000-210070200	Enhancers	Primary T cells from cord blood	blood
10	chr1:210068000-210070400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:210068000-210070400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:210068200-210069600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:210068200-210070200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:210068200-210070200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:210068200-210070200	Enhancers	HUVEC	blood vessel
16	chr1:210068200-210070400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:210068200-210070600	Enhancers	Osteobl	bone
18	chr1:210068200-210070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:210068400-210069200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:210068800-210069600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:210068800-210069600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:210068800-210070000	Flanking Active TSS	Hela-S3	cervix
23	chr1:210068800-210070000	Enhancers	HSMM	muscle
24	chr1:210069000-210069200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:210069000-210069400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:210069000-210069600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:210069000-210070600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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