Variant report

Variant	rs3770457
Chromosome Location	chr2:172652210-172652211
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172649118..172653005-chr2:172653047..172656118,3	K562	blood:
2	chr2:172637502..172642511-chr2:172648363..172652969,5	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10177679	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs10179020	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10184770	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10185633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10191399	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10196521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10201520	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1022358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10432474	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10439296	1.00[JPT][hapmap]
rs10930493	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10930497	1.00[CEU][hapmap]
rs10930501	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1105264	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11676484	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11677573	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs11678892	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs11692418	1.00[JPT][hapmap]
rs11887208	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11903123	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903410	0.83[AMR][1000 genomes]
rs12464262	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12467010	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12471160	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12473516	0.85[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs12478189	0.87[ASN][1000 genomes]
rs12479374	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12617265	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12619137	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12692971	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12692979	1.00[JPT][hapmap]
rs13012103	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13017988	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13021571	0.84[ASN][1000 genomes]
rs13031370	0.83[AMR][1000 genomes]
rs13399316	0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1400816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443700	1.00[JPT][hapmap]
rs1515812	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1517678	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554165	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1607253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17580984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17614989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17615013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1810338	0.84[AMR][1000 genomes]
rs1850031	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1878583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1982288	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1996425	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028670	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2028671	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2028672	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs2037164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2056202	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2138873	0.81[AFR][1000 genomes]
rs2176466	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2292813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2357064	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2357206	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2357207	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2357208	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28372952	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs312917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3770443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770444	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770453	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3791343	0.89[EUR][1000 genomes]
rs3821092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3821094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821095	0.84[YRI][hapmap]
rs3821096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324292	0.89[JPT][hapmap]
rs4507064	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668413	0.84[ASN][1000 genomes]
rs4668416	0.83[AFR][1000 genomes]
rs4668417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58565148	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59414074	0.82[AFR][1000 genomes]
rs60706248	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433316	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6433317	1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6433318	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6433322	0.83[AMR][1000 genomes]
rs6707142	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6708365	0.80[AFR][1000 genomes]
rs6711813	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6714214	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6726050	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6726991	0.81[AFR][1000 genomes]
rs6733123	0.82[AMR][1000 genomes]
rs6736159	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6740705	1.00[JPT][hapmap]
rs6742905	1.00[EUR][1000 genomes]
rs6753551	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6757680	0.88[JPT][hapmap]
rs6758494	1.00[JPT][hapmap]
rs6760680	1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[ASN][1000 genomes]
rs7340516	1.00[JPT][hapmap]
rs7371631	0.83[AMR][1000 genomes]
rs7574090	0.94[ASN][1000 genomes]
rs7574711	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7579509	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7580132	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs7580232	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7583860	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7588025	1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs7588351	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7594478	1.00[JPT][hapmap]
rs7597525	0.98[EUR][1000 genomes]
rs7598232	0.83[AMR][1000 genomes]
rs7604933	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs925881	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9287948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs949548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636293	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs970948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][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:117 , 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	chr2:172635400-172654800	Weak transcription	A549	lung
3	chr2:172635600-172654600	Weak transcription	Liver	Liver
4	chr2:172636800-172654800	Weak transcription	Small Intestine	intestine
5	chr2:172640200-172662800	Weak transcription	Fetal Brain Male	brain
6	chr2:172640400-172668000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:172641600-172666400	Weak transcription	Fetal Kidney	kidney
8	chr2:172642200-172654000	Weak transcription	HUVEC	blood vessel
9	chr2:172642200-172654600	Weak transcription	NHEK	skin
10	chr2:172642200-172654800	Weak transcription	HSMM	muscle
11	chr2:172642200-172663600	Weak transcription	K562	blood
12	chr2:172642200-172665800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
15	chr2:172643800-172674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:172644000-172667000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:172644200-172666600	Weak transcription	Placenta	Placenta
18	chr2:172644400-172654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:172644400-172655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:172644400-172655000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:172644400-172656000	Weak transcription	Aorta	Aorta
22	chr2:172644400-172666000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
24	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
25	chr2:172644600-172654400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:172644600-172654400	Weak transcription	NH-A	brain
27	chr2:172644600-172654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:172644600-172654800	Weak transcription	NHLF	lung
29	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
30	chr2:172645000-172654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:172648200-172654800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:172648200-172666000	Weak transcription	Fetal Brain Female	brain
34	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
37	chr2:172648400-172654600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:172648400-172654600	Weak transcription	NHDF-Ad	bronchial
39	chr2:172648400-172654800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:172648400-172655200	Weak transcription	Fetal Lung	lung
41	chr2:172648400-172671000	Weak transcription	Psoas Muscle	Psoas
42	chr2:172648400-172671200	Weak transcription	Right Ventricle	heart
43	chr2:172648400-172681800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:172648400-172687600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:172648600-172654800	Weak transcription	HSMMtube	muscle
46	chr2:172648800-172687400	Weak transcription	Esophagus	oesophagus
47	chr2:172649000-172652400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:172649000-172687400	Weak transcription	Gastric	stomach
49	chr2:172649200-172652400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:172649200-172652800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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