Variant report

Variant	rs62182401
Chromosome Location	chr2:172733348-172733349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17499544	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17499593	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55681218	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55864623	0.85[AMR][1000 genomes]
rs56049564	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56133507	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62181740	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62181741	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62181743	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62182404	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182425	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62182429	0.83[AMR][1000 genomes]
rs62182432	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62182437	0.83[AMR][1000 genomes]
rs62182446	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62183763	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62183776	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72881959	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72889094	0.83[AMR][1000 genomes]
rs72890841	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
3	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:172693600-172734600	Weak transcription	HSMM	muscle
7	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
8	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172698600-172734600	Weak transcription	Adipose Nuclei	Adipose
11	chr2:172699000-172734600	Weak transcription	Brain Angular Gyrus	brain
12	chr2:172705400-172735200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:172709400-172734400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:172711600-172740000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix
19	chr2:172712400-172738200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:172715400-172735200	Weak transcription	NHLF	lung
21	chr2:172716600-172736600	Weak transcription	Ovary	ovary
22	chr2:172721200-172734600	Weak transcription	Right Atrium	heart
23	chr2:172721200-172734600	Weak transcription	HSMMtube	muscle
24	chr2:172721200-172749600	Weak transcription	Thymus	Thymus
25	chr2:172721400-172734600	Weak transcription	Aorta	Aorta
26	chr2:172721400-172734600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:172721400-172734600	Weak transcription	Psoas Muscle	Psoas
28	chr2:172723200-172733800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:172724000-172749600	Weak transcription	Small Intestine	intestine
30	chr2:172724600-172733600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:172724800-172749600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:172725200-172734600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:172725200-172735000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:172725400-172749800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:172725800-172734400	Weak transcription	K562	blood
36	chr2:172725800-172749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:172727800-172738600	Weak transcription	Dnd41	blood
38	chr2:172728000-172733800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:172728200-172734600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:172731200-172734600	Weak transcription	Stomach Mucosa	stomach
41	chr2:172731400-172746400	Weak transcription	Fetal Lung	lung
42	chr2:172731600-172749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:172731800-172734600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:172731800-172734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:172731800-172735000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:172731800-172735200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:172731800-172740600	Weak transcription	Fetal Stomach	stomach
48	chr2:172731800-172746400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:172732000-172733800	Weak transcription	Left Ventricle	heart
50	chr2:172732000-172734400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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