Variant report

Variant	rs717417
Chromosome Location	chr2:98416850-98416851
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98416559..98419447-chr2:98426233..98427931,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10432626	0.80[EUR][1000 genomes]
rs11678558	0.86[AMR][1000 genomes]
rs11678591	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11679828	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11680018	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680321	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11680883	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11681535	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11684749	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11688829	0.89[AMR][1000 genomes];0.90[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];0.92[EUR][1000 genomes]
rs11692671	0.82[EUR][1000 genomes]
rs12052222	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12052846	0.80[EUR][1000 genomes]
rs12104810	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12988571	0.98[AMR][1000 genomes];0.99[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];0.95[EUR][1000 genomes]
rs13020776	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13023980	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13028954	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13032265	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13032883	0.81[EUR][1000 genomes]
rs13034929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470483	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578957	0.86[AFR][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];0.99[EUR][1000 genomes]
rs17490429	0.93[AMR][1000 genomes];0.96[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];0.96[EUR][1000 genomes]
rs2084176	0.93[AMR][1000 genomes];0.96[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]
rs34149969	0.88[EUR][1000 genomes]
rs34373359	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34502870	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34528940	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34654057	0.97[AMR][1000 genomes];0.95[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	0.82[EUR][1000 genomes]
rs55776387	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55886305	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57681139	0.80[EUR][1000 genomes]
rs58546246	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62156511	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6710088	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6711101	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6738389	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6746768	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6748124	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6757357	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71412824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7421146	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7601898	0.80[EUR][1000 genomes]
rs895438	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs717417	ACTR1B	cis	Esophagus Muscularis	GTEx
rs717417	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	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:98392400-98418600	Weak transcription	Fetal Kidney	kidney
6	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
9	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:98402600-98422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:98402600-98422600	Strong transcription	Liver	Liver
17	chr2:98403200-98422400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:98403600-98422600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
20	chr2:98406200-98427200	Weak transcription	K562	blood
21	chr2:98406400-98469200	Weak transcription	A549	lung
22	chr2:98407400-98422000	Strong transcription	Adipose Nuclei	Adipose
23	chr2:98407400-98422200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:98407800-98422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:98409000-98425000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:98409200-98423600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:98409400-98417000	Weak transcription	Lung	lung
28	chr2:98409400-98418600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:98409400-98423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:98409400-98423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:98409400-98423600	Weak transcription	Psoas Muscle	Psoas
32	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
33	chr2:98409600-98418600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:98409600-98419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:98409800-98425000	Weak transcription	Fetal Brain Female	brain
37	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
38	chr2:98410000-98417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:98410000-98417600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:98410000-98417600	Weak transcription	Dnd41	blood
41	chr2:98410000-98417600	Weak transcription	NHLF	lung
42	chr2:98410000-98423400	Weak transcription	Right Ventricle	heart
43	chr2:98410000-98424800	Weak transcription	Brain Germinal Matrix	brain
44	chr2:98410000-98424800	Weak transcription	Esophagus	oesophagus
45	chr2:98410000-98425200	Weak transcription	Gastric	stomach
46	chr2:98410000-98425400	Weak transcription	Pancreas	Pancrea
47	chr2:98410000-98425800	Weak transcription	NH-A	brain
48	chr2:98410000-98427000	Weak transcription	Brain Angular Gyrus	brain
49	chr2:98410000-98427200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:98410000-98427200	Weak transcription	Brain Substantia Nigra	brain

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