Variant report

Variant	rs11716974
Chromosome Location	chr3:49431853-49431854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10212296	0.82[AMR][1000 genomes]
rs1050450	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130192	0.86[ASN][1000 genomes]
rs11706370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11711485	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11711536	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11712569	0.85[AMR][1000 genomes]
rs11713474	0.82[AMR][1000 genomes]
rs11715915	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11719996	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11922013	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11926781	0.83[AMR][1000 genomes]
rs12330269	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13079082	0.83[AMR][1000 genomes]
rs13079643	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13086611	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13087851	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13090388	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1464566	0.86[ASN][1000 genomes]
rs1464567	0.86[ASN][1000 genomes]
rs1464568	0.86[ASN][1000 genomes]
rs17080528	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17595772	0.82[ASN][1000 genomes]
rs17650792	0.82[ASN][1000 genomes]
rs1800668	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1801143	0.83[AMR][1000 genomes]
rs1987628	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2878298	0.82[ASN][1000 genomes]
rs34196454	0.85[AMR][1000 genomes]
rs34293138	0.85[AMR][1000 genomes]
rs34363169	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34427167	0.83[AMR][1000 genomes]
rs34588335	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35115732	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35169793	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35261698	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35999162	0.82[AMR][1000 genomes]
rs3811697	0.82[AMR][1000 genomes]
rs3811699	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3926569	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4459909	0.86[ASN][1000 genomes]
rs4625	0.83[AMR][1000 genomes]
rs4855842	0.84[ASN][1000 genomes]
rs4855843	0.90[ASN][1000 genomes]
rs4855873	0.86[ASN][1000 genomes]
rs4855877	0.86[ASN][1000 genomes]
rs4955412	0.82[ASN][1000 genomes]
rs55957735	0.84[ASN][1000 genomes]
rs62259939	0.82[ASN][1000 genomes]
rs6446264	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446272	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446277	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67216675	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67485053	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6766131	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6766581	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6779524	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6784820	0.86[ASN][1000 genomes]
rs6792911	0.94[ASN][1000 genomes]
rs6793308	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6797664	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6797765	0.82[ASN][1000 genomes]
rs6809216	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6997	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71324962	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7621003	0.82[ASN][1000 genomes]
rs7622302	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7623659	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7630869	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7631908	0.84[ASN][1000 genomes]
rs7633271	0.86[AMR][1000 genomes]
rs7643586	0.94[ASN][1000 genomes]
rs7646366	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7648841	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9814873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9818590	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9821311	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9827021	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9837027	0.82[AMR][1000 genomes]
rs9841110	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9850072	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9853683	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9858280	0.82[AMR][1000 genomes]
rs9858418	0.83[AMR][1000 genomes]
rs9859556	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9871380	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9878943	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11716974	FAM212A	cis	Muscle Skeletal	GTEx
rs11716974	IHPK2	Cis_1M	lymphoblastoid	RTeQTL
rs11716974	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49396800-49438800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49399000-49448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:49406000-49445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:49411000-49434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:49413200-49432000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:49413200-49432000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:49413200-49432000	Weak transcription	Fetal Kidney	kidney
8	chr3:49413200-49433200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:49413200-49435000	Weak transcription	Brain Angular Gyrus	brain
10	chr3:49413200-49441400	Weak transcription	Aorta	Aorta
11	chr3:49413200-49443000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:49413200-49447400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:49413400-49433600	Weak transcription	Brain Germinal Matrix	brain
14	chr3:49413400-49439000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:49413600-49432000	Weak transcription	Fetal Lung	lung
16	chr3:49413600-49433200	Weak transcription	Colonic Mucosa	Colon
17	chr3:49413600-49441000	Weak transcription	Fetal Brain Female	brain
18	chr3:49416200-49433200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:49416200-49435200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:49416400-49432200	Weak transcription	Placenta	Placenta
21	chr3:49417800-49437800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:49418000-49432600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:49422200-49443000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:49424000-49432000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:49424200-49432000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:49424200-49432000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:49424200-49432000	Weak transcription	Liver	Liver
28	chr3:49424200-49434800	Weak transcription	Brain Anterior Caudate	brain
29	chr3:49424200-49435000	Weak transcription	Stomach Mucosa	stomach
30	chr3:49424200-49443400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:49424400-49432000	Weak transcription	HepG2	liver
32	chr3:49424400-49435000	Weak transcription	Small Intestine	intestine
33	chr3:49425400-49435000	Strong transcription	Fetal Intestine Small	intestine
34	chr3:49425800-49437800	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:49426000-49432000	Weak transcription	Adipose Nuclei	Adipose
36	chr3:49426000-49432000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:49426000-49436600	Weak transcription	Gastric	stomach
38	chr3:49426000-49444000	Weak transcription	Esophagus	oesophagus
39	chr3:49426200-49432000	Weak transcription	K562	blood
40	chr3:49426200-49437800	Weak transcription	Brain Substantia Nigra	brain
41	chr3:49426200-49443000	Weak transcription	NHLF	lung
42	chr3:49426400-49432000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr3:49426400-49432000	Weak transcription	A549	lung
44	chr3:49426400-49432000	Weak transcription	NH-A	brain
45	chr3:49426400-49433200	Weak transcription	HMEC	breast
46	chr3:49426400-49433200	Weak transcription	NHDF-Ad	bronchial
47	chr3:49426800-49433600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:49427000-49432000	Weak transcription	Primary B cells from cord blood	blood
49	chr3:49427000-49432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:49427000-49435000	Weak transcription	HSMMtube	muscle

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