Variant report

Variant	rs62182370
Chromosome Location	chr2:172681510-172681511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172679219..172682051-chr2:172683706..172687568,3	K562	blood:
2	chr2:172679219..172682051-chr2:172684647..172687568,2	K562	blood:
3	chr2:172680166..172682023-chr2:172748677..172750692,2	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12053046	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12614709	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12619041	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12620126	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12622772	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12622895	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17581361	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17581439	0.80[EUR][1000 genomes]
rs17615262	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2176465	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3736499	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3765166	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3765167	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3770448	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770449	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770455	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3821093	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55957712	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56275355	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57718990	0.85[AMR][1000 genomes]
rs57775770	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62182372	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62182373	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62182374	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62182392	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72881938	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72885532	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72885545	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72889848	0.81[AMR][1000 genomes]
rs7584258	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172603000-172688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
4	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
5	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
6	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
11	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
14	chr2:172649000-172687400	Weak transcription	Gastric	stomach
15	chr2:172649200-172682000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:172650400-172681800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:172650400-172687400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:172650400-172687600	Weak transcription	Lung	lung
19	chr2:172651800-172682000	Weak transcription	Fetal Thymus	thymus
20	chr2:172653000-172687400	Weak transcription	Fetal Heart	heart
21	chr2:172655200-172681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:172655400-172687400	Weak transcription	A549	lung
23	chr2:172655600-172681800	Weak transcription	NHDF-Ad	bronchial
24	chr2:172655600-172687400	Weak transcription	NH-A	brain
25	chr2:172655800-172687400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:172656200-172683800	Weak transcription	Thymus	Thymus
27	chr2:172656400-172682000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:172656400-172684200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:172656400-172684400	Weak transcription	Aorta	Aorta
30	chr2:172657600-172687400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:172662600-172682000	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:172663000-172682600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:172663600-172687400	Weak transcription	Fetal Brain Male	brain
34	chr2:172664200-172687400	Weak transcription	K562	blood
35	chr2:172664400-172687400	Weak transcription	HUVEC	blood vessel
36	chr2:172664600-172684400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:172664600-172687400	Weak transcription	NHEK	skin
38	chr2:172664800-172686400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:172664800-172687600	Weak transcription	HMEC	breast
40	chr2:172665200-172681800	Weak transcription	HepG2	liver
41	chr2:172665200-172689600	Weak transcription	Small Intestine	intestine
42	chr2:172666200-172689600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:172666600-172685000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:172666800-172681800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:172667000-172687400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:172667200-172681800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:172667600-172686800	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:172667800-172683800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:172667800-172684400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:172667800-172685200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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