Variant report

Variant	rs2234926
Chromosome Location	chr1:171621525-171621526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12142786	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2075648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:171614600-171624600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:171615200-171623600	Weak transcription	Right Atrium	heart
3	chr1:171615400-171621600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:171615400-171622800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:171615400-171623000	Weak transcription	HSMM	muscle
6	chr1:171615600-171621600	Weak transcription	Liver	Liver
7	chr1:171620000-171621600	Active TSS	Adipose Nuclei	Adipose
8	chr1:171620000-171623400	Enhancers	Fetal Heart	heart
9	chr1:171620400-171627600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:171620800-171622600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:171621000-171621600	Enhancers	Left Ventricle	heart
12	chr1:171621000-171622400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr1:171621000-171624800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:171621000-171625800	Enhancers	Fetal Stomach	stomach
15	chr1:171621200-171621800	Enhancers	Aorta	Aorta
16	chr1:171621200-171622400	Enhancers	Psoas Muscle	Psoas
17	chr1:171621400-171621600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:171621400-171621800	Enhancers	Lung	lung
19	chr1:171621400-171621800	Enhancers	Ovary	ovary
20	chr1:171621400-171621800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr1:171621400-171622000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr1:171621400-171622000	Enhancers	Placenta	Placenta
23	chr1:171621400-171622400	Enhancers	Right Ventricle	heart
24	chr1:171621400-171623400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:171621400-171623600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:171621400-171624200	Enhancers	Colon Smooth Muscle	Colon
27	chr1:171621400-171624600	Enhancers	Rectal Smooth Muscle	rectum

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