Variant report

Variant	rs62171478
Chromosome Location	chr2:206163390-206163391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11677344	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11677715	0.94[EUR][1000 genomes]
rs11686569	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11690400	0.94[EUR][1000 genomes]
rs16837232	0.94[EUR][1000 genomes]
rs16837234	0.94[EUR][1000 genomes]
rs16837235	0.88[EUR][1000 genomes]
rs17198316	0.82[EUR][1000 genomes]
rs17199190	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17200062	0.94[EUR][1000 genomes]
rs17251602	0.85[EUR][1000 genomes]
rs17265864	0.94[EUR][1000 genomes]
rs17266866	0.94[EUR][1000 genomes]
rs1849225	0.94[EUR][1000 genomes]
rs1921806	0.92[EUR][1000 genomes]
rs62171469	0.82[EUR][1000 genomes]
rs62171470	0.82[EUR][1000 genomes]
rs62171471	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171473	0.94[EUR][1000 genomes]
rs62171474	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171475	0.94[EUR][1000 genomes]
rs62171476	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171477	0.94[EUR][1000 genomes]
rs62171479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171481	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171482	0.94[EUR][1000 genomes]
rs62171498	0.94[EUR][1000 genomes]
rs62171499	0.94[EUR][1000 genomes]
rs62171500	0.94[EUR][1000 genomes]
rs62171501	0.94[EUR][1000 genomes]
rs62171502	0.94[EUR][1000 genomes]
rs62171503	0.94[EUR][1000 genomes]
rs62171504	0.94[EUR][1000 genomes]
rs62171505	0.94[EUR][1000 genomes]
rs62171507	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206153000-206165800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:206154200-206168200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:206154600-206165800	Weak transcription	Ovary	ovary
5	chr2:206157000-206167200	Weak transcription	Fetal Intestine Large	intestine
6	chr2:206157000-206170400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:206157000-206170800	Weak transcription	Aorta	Aorta
8	chr2:206157400-206169400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:206157400-206170800	Weak transcription	Pancreas	Pancrea
10	chr2:206158600-206166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:206160000-206169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:206160200-206165600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:206160200-206169800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:206161200-206164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:206161200-206168800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:206161200-206177000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:206162400-206165000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:206162600-206165600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:206162800-206165400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:206162800-206165800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:206162800-206167400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:206163000-206165800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:206163000-206166000	Weak transcription	Stomach Smooth Muscle	stomach

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