Variant report

Variant	rs13006932
Chromosome Location	chr2:98370698-98370699
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11678558	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678591	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11679828	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11680018	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11680321	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11680883	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11681535	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11684749	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11686881	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11688829	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11690687	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11690737	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11691494	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11692010	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11692470	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11692671	0.85[EUR][1000 genomes]
rs12052222	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12104810	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12988571	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12995673	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13004090	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13008968	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13020776	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13023980	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13028954	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13032265	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13034929	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470483	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17488834	0.82[EUR][1000 genomes]
rs17488897	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489454	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17489915	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17489984	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17490429	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1838797	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2044458	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2044459	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2084176	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2278700	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2305143	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2871183	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3192177	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34149969	0.90[EUR][1000 genomes]
rs34373359	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34502870	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34528940	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34654057	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34974566	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35218942	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35424768	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35505530	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4311104	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4851462	0.85[EUR][1000 genomes]
rs55776387	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55886305	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58546246	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62156511	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6710088	0.89[AMR][1000 genomes]
rs6711101	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6738389	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6746768	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6748124	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6757357	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71412824	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs717417	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7421146	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs895438	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13006932	ACTR1B	cis	Artery Tibial	GTEx
rs13006932	ACTR1B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
2	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98355000-98373200	Weak transcription	Gastric	stomach
4	chr2:98357400-98371400	Weak transcription	Dnd41	blood
5	chr2:98357400-98372000	Weak transcription	Pancreas	Pancrea
6	chr2:98358600-98372000	Weak transcription	Brain Germinal Matrix	brain
7	chr2:98358800-98371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:98359200-98371000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:98359200-98371200	Weak transcription	Small Intestine	intestine
10	chr2:98359200-98371800	Weak transcription	Right Ventricle	heart
11	chr2:98359200-98382400	Weak transcription	Psoas Muscle	Psoas
12	chr2:98359600-98371000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:98359600-98371000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:98360200-98371200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:98361000-98373200	Weak transcription	Ovary	ovary
16	chr2:98361200-98371200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:98361200-98371200	Weak transcription	HepG2	liver
18	chr2:98361200-98371400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:98361200-98371800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:98361200-98372000	Weak transcription	Aorta	Aorta
21	chr2:98362000-98371400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:98362600-98371200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:98362800-98372200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:98363200-98375600	Weak transcription	Hela-S3	cervix
25	chr2:98363600-98371800	Weak transcription	A549	lung
26	chr2:98363800-98373200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:98364200-98373400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:98364600-98374800	Weak transcription	Stomach Mucosa	stomach
29	chr2:98364600-98375000	Weak transcription	Fetal Brain Male	brain
30	chr2:98364800-98372200	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:98365000-98373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:98365200-98370800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:98365200-98371200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:98365400-98370800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:98365400-98370800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:98365400-98371000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:98365400-98371000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:98365400-98371200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:98365400-98371200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:98365400-98371200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:98365400-98371200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:98365400-98371200	Weak transcription	Spleen	Spleen
43	chr2:98365400-98371400	Weak transcription	Fetal Brain Female	brain
44	chr2:98365400-98371800	Weak transcription	Thymus	Thymus
45	chr2:98365400-98371800	Weak transcription	GM12878-XiMat	blood
46	chr2:98365400-98372400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:98365400-98372400	Weak transcription	K562	blood
48	chr2:98365400-98373400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:98365400-98375000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:98365400-98375400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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