Variant report

Variant	rs3770458
Chromosome Location	chr2:172651287-172651288
allele	A/G
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: 21 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1028127	0.87[EUR][1000 genomes]
rs10930491	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11690807	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12052995	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12997093	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12998411	0.87[EUR][1000 genomes]
rs1607254	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17581284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17614941	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2271758	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292816	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34242651	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34531723	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35854151	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4510184	0.85[AMR][1000 genomes]
rs4581870	0.80[CEU][hapmap]
rs59844139	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62184165	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6723259	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9789538	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3770458	AC068039.4	cis	Thyroid	GTEx
rs3770458	AC068039.4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:122 , 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	chr2:172610200-172651400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:172635400-172654800	Weak transcription	A549	lung
4	chr2:172635600-172654600	Weak transcription	Liver	Liver
5	chr2:172636800-172654800	Weak transcription	Small Intestine	intestine
6	chr2:172640000-172651400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:172640200-172662800	Weak transcription	Fetal Brain Male	brain
8	chr2:172640400-172668000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:172641600-172666400	Weak transcription	Fetal Kidney	kidney
10	chr2:172642200-172651400	Weak transcription	Fetal Heart	heart
11	chr2:172642200-172651400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:172642200-172654000	Weak transcription	HUVEC	blood vessel
13	chr2:172642200-172654600	Weak transcription	NHEK	skin
14	chr2:172642200-172654800	Weak transcription	HSMM	muscle
15	chr2:172642200-172663600	Weak transcription	K562	blood
16	chr2:172642200-172665800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:172642400-172688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:172643600-172687800	Weak transcription	Hela-S3	cervix
19	chr2:172643800-172674600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:172644000-172667000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:172644200-172666600	Weak transcription	Placenta	Placenta
22	chr2:172644400-172654800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:172644400-172655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:172644400-172655000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:172644400-172656000	Weak transcription	Aorta	Aorta
26	chr2:172644400-172666000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:172644400-172681800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:172644400-172684400	Weak transcription	Spleen	Spleen
29	chr2:172644600-172654400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:172644600-172654400	Weak transcription	NH-A	brain
31	chr2:172644600-172654800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:172644600-172654800	Weak transcription	NHLF	lung
33	chr2:172644600-172681800	Weak transcription	Brain Angular Gyrus	brain
34	chr2:172645000-172654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:172645400-172687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:172645800-172651400	Weak transcription	HepG2	liver
37	chr2:172646800-172651400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:172647000-172651400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:172647000-172651600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:172647400-172652000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:172647800-172651400	Weak transcription	Brain Germinal Matrix	brain
42	chr2:172648200-172654800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:172648200-172666000	Weak transcription	Fetal Brain Female	brain
44	chr2:172648200-172684400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:172648200-172687400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:172648200-172687400	Weak transcription	Colonic Mucosa	Colon
47	chr2:172648400-172651400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:172648400-172651400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:172648400-172654600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:172648400-172654600	Weak transcription	NHDF-Ad	bronchial

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