Variant report

Variant	rs28538804
Chromosome Location	chr2:205520482-205520483
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:30)

rs_ID	r²[population]
rs10168631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10174665	1.00[EUR][1000 genomes]
rs10179131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10180863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190242	1.00[EUR][1000 genomes]
rs10199785	1.00[AMR][1000 genomes]
rs10199977	1.00[AMR][1000 genomes]
rs10207338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12328281	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13393921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410864	1.00[AMR][1000 genomes]
rs13412778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13413975	1.00[AMR][1000 genomes]
rs13417497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17595379	1.00[EUR][1000 genomes]
rs28751884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34575634	1.00[EUR][1000 genomes]
rs60899945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059099	1.00[EUR][1000 genomes]
rs7591676	1.00[EUR][1000 genomes]
rs9653255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9973966	1.00[AMR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205505400-205521600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:205507400-205530000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:205517200-205530000	Weak transcription	Ovary	ovary
4	chr2:205519000-205522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:205519200-205520600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:205519200-205520600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:205519200-205520800	Enhancers	NHDF-Ad	bronchial
8	chr2:205519400-205521000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:205519400-205529400	Weak transcription	Fetal Heart	heart
10	chr2:205519600-205520800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:205519600-205520800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:205519600-205520800	Enhancers	HSMM	muscle
13	chr2:205519600-205520800	Enhancers	HSMMtube	muscle
14	chr2:205520000-205529200	Weak transcription	Fetal Lung	lung
15	chr2:205520200-205520600	Weak transcription	Psoas Muscle	Psoas
16	chr2:205520200-205521400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:205520200-205521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:205520200-205521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:205520200-205521800	Weak transcription	NHEK	skin
20	chr2:205520200-205529200	Weak transcription	Esophagus	oesophagus
21	chr2:205520400-205520600	Weak transcription	Aorta	Aorta
22	chr2:205520400-205522000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:205520400-205528600	Weak transcription	NHLF	lung
24	chr2:205520400-205528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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