Variant report

Variant	rs12059676
Chromosome Location	chr1:185943485-185943486
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185942719..185945777-chr1:185948819..185950907,3	K562	blood:
2	chr1:185939132..185941701-chr1:185942042..185944979,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10047250	1.00[EUR][1000 genomes]
rs10157843	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10911784	1.00[EUR][1000 genomes]
rs10911787	0.93[AFR][1000 genomes]
rs1116146	0.91[EUR][1000 genomes]
rs11580879	0.91[EUR][1000 genomes]
rs11586768	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11586771	1.00[EUR][1000 genomes]
rs11589455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12062879	1.00[EUR][1000 genomes]
rs12068829	1.00[EUR][1000 genomes]
rs12073492	1.00[EUR][1000 genomes]
rs12077084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12088513	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094899	1.00[EUR][1000 genomes]
rs1322361	1.00[EUR][1000 genomes]
rs1407427	1.00[EUR][1000 genomes]
rs28535260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28792457	0.84[EUR][1000 genomes]
rs34427602	0.87[AFR][1000 genomes]
rs35875123	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6425011	1.00[EUR][1000 genomes]
rs6662653	0.91[EUR][1000 genomes]
rs6675465	0.91[EUR][1000 genomes]
rs72718862	0.91[EUR][1000 genomes]
rs72718864	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72718865	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718867	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718875	0.91[EUR][1000 genomes]
rs72718880	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185934600-185969000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185937000-185964000	Weak transcription	Aorta	Aorta
5	chr1:185938200-185944000	Enhancers	NH-A	brain
6	chr1:185938200-185944200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:185938600-185946600	Weak transcription	Fetal Kidney	kidney
8	chr1:185938800-185990200	Weak transcription	Liver	Liver
9	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:185939000-185944200	Enhancers	NHDF-Ad	bronchial
11	chr1:185939000-185953600	Weak transcription	Fetal Lung	lung
12	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:185939800-185958600	Weak transcription	Left Ventricle	heart
15	chr1:185940400-185944000	Enhancers	NHLF	lung
16	chr1:185940600-185944200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:185940800-185943600	Enhancers	HMEC	breast
18	chr1:185941200-185943800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:185941400-185943600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:185941400-185944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:185941400-185944200	Enhancers	Osteobl	bone
22	chr1:185942200-185944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:185942600-185944200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:185942800-185944400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:185943200-185943800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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