Variant report

Variant	rs62175383
Chromosome Location	chr2:161007694-161007695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10497212	0.83[ASN][1000 genomes]
rs12478287	0.83[ASN][1000 genomes]
rs1563573	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16844790	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16844802	0.83[ASN][1000 genomes]
rs17284082	0.91[ASN][1000 genomes]
rs2357770	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2357771	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2357864	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28867432	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2925752	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2925754	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2966385	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3101040	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3111395	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3111397	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4076843	0.83[ASN][1000 genomes]
rs4595921	0.83[ASN][1000 genomes]
rs4665154	0.83[ASN][1000 genomes]
rs4665156	0.83[ASN][1000 genomes]
rs58716738	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs60454853	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60915384	0.83[ASN][1000 genomes]
rs62175380	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62175385	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62175389	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62175390	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62175433	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62177892	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72967898	0.83[ASN][1000 genomes]
rs72969807	0.83[ASN][1000 genomes]
rs72969809	0.83[ASN][1000 genomes]
rs72975471	0.83[ASN][1000 genomes]
rs72975474	0.83[ASN][1000 genomes]
rs72977408	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72979930	0.89[ASN][1000 genomes]
rs7557804	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7573469	0.83[ASN][1000 genomes]
rs7581712	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[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	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv528083	chr2:160998792-161015066	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	1 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	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
2	chr2:160994400-161014800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:160994400-161037400	Weak transcription	Pancreas	Pancrea
4	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:160997200-161014600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:160997200-161021800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:160999400-161012800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:160999400-161022600	Weak transcription	Stomach Mucosa	stomach
9	chr2:161001800-161012600	Weak transcription	HSMM	muscle
10	chr2:161002600-161011800	Weak transcription	NHEK	skin
11	chr2:161002600-161028400	Weak transcription	Lung	lung
12	chr2:161002800-161014600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:161003000-161021400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:161005400-161011200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:161005600-161010400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:161005600-161010800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:161005600-161011200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:161005600-161011600	Weak transcription	HMEC	breast
19	chr2:161005600-161012800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:161005600-161013600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:161005600-161022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:161005600-161026000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:161005600-161037400	Weak transcription	Esophagus	oesophagus
24	chr2:161005800-161021800	Weak transcription	Fetal Intestine Large	intestine

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