Variant report

Variant	rs13034929
Chromosome Location	chr2:98402772-98402773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98401517..98404238-chr2:98424801..98426303,2	K562	blood:
2	chr2:98400697..98404304-chr2:98404392..98407609,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10432626	0.81[EUR][1000 genomes]
rs11678558	0.86[AMR][1000 genomes]
rs11678591	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11679828	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680018	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680321	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11680883	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11681535	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11684749	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11688829	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11690687	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11690737	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11691494	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11692010	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11692470	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11692671	0.82[EUR][1000 genomes]
rs12052222	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12052846	0.81[EUR][1000 genomes]
rs12104810	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12988571	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12995673	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004090	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13006932	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13008968	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13020776	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13023980	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13028954	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13032265	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13032883	0.81[EUR][1000 genomes]
rs1470483	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488834	0.80[EUR][1000 genomes]
rs17488897	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17489454	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17489915	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17489984	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17490429	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1838797	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2044458	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2044459	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2084176	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2278700	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2305143	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2871183	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3192177	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34149969	0.88[EUR][1000 genomes]
rs34373359	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34502870	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34503448	0.80[EUR][1000 genomes]
rs34528940	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34654057	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34974566	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35218942	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35255677	0.81[EUR][1000 genomes]
rs35424768	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35505530	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35783535	0.81[EUR][1000 genomes]
rs4311104	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4851462	0.83[EUR][1000 genomes]
rs55776387	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886305	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58546246	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62156511	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6710088	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711101	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6738389	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6746768	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6748124	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6757357	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71412824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717417	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7421146	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7564773	0.80[EUR][1000 genomes]
rs7601898	0.81[EUR][1000 genomes]
rs895438	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953320	0.80[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	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
rs13034929	ACTR1B	cis	Esophagus Muscularis	GTEx
rs13034929	ACTR1B	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
3	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:98383000-98408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:98383200-98408800	Weak transcription	Fetal Brain Male	brain
9	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:98383400-98405600	Weak transcription	A549	lung
11	chr2:98387800-98408000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:98387800-98408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:98388000-98407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:98388000-98408600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:98389000-98408200	Weak transcription	NH-A	brain
17	chr2:98390200-98407600	Weak transcription	Psoas Muscle	Psoas
18	chr2:98390200-98408000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:98391400-98408000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:98392000-98405000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:98392200-98404400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:98392200-98407600	Weak transcription	NHLF	lung
23	chr2:98392200-98409200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:98392400-98403000	Weak transcription	Dnd41	blood
25	chr2:98392400-98403200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:98392400-98403200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:98392400-98405000	Weak transcription	HMEC	breast
28	chr2:98392400-98405600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:98392400-98406000	Weak transcription	HSMM	muscle
30	chr2:98392400-98407600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:98392400-98407800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:98392400-98407800	Weak transcription	Brain Angular Gyrus	brain
33	chr2:98392400-98407800	Weak transcription	HSMMtube	muscle
34	chr2:98392400-98408800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:98392400-98415600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:98392400-98418600	Weak transcription	Fetal Kidney	kidney
37	chr2:98392600-98405800	Weak transcription	Fetal Brain Female	brain
38	chr2:98392600-98407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:98392600-98408000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:98393000-98404400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:98393600-98405600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:98393800-98403000	Weak transcription	Fetal Lung	lung
43	chr2:98393800-98407800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:98393800-98409000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:98394200-98415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:98396000-98404400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:98396000-98407000	Weak transcription	Brain Substantia Nigra	brain
48	chr2:98396200-98408000	Weak transcription	NHEK	skin
49	chr2:98396800-98405600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:98397200-98406000	Weak transcription	Brain Germinal Matrix	brain

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