Variant report

Variant	rs9871380
Chromosome Location	chr3:49438221-49438222
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	chr3:49438129..49440566-chr3:49446328..49448559,2	K562	blood:
2	chr3:49433634..49436647-chr3:49437237..49441017,4	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10212296	0.81[AMR][1000 genomes]
rs1050450	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10640	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130192	0.94[ASN][1000 genomes]
rs11130193	0.83[ASN][1000 genomes]
rs11130196	0.82[ASN][1000 genomes]
rs11706370	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711485	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11711536	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11712569	0.83[AMR][1000 genomes]
rs11713474	0.83[AMR][1000 genomes]
rs11715915	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716974	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11719996	0.86[AMR][1000 genomes]
rs11922013	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11926781	0.82[AMR][1000 genomes]
rs12330269	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13079082	0.85[AMR][1000 genomes]
rs13079643	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13086611	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13087851	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13090388	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1464566	0.94[ASN][1000 genomes]
rs1464567	0.94[ASN][1000 genomes]
rs1464568	0.94[ASN][1000 genomes]
rs17080528	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1800668	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1801143	0.85[AMR][1000 genomes]
rs1987628	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34196454	0.83[AMR][1000 genomes]
rs34293138	0.86[AMR][1000 genomes]
rs34363169	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34427167	0.82[AMR][1000 genomes]
rs34588335	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34937635	0.87[ASN][1000 genomes]
rs35115732	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35169793	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35261698	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35999162	0.80[AMR][1000 genomes]
rs3811697	0.83[AMR][1000 genomes]
rs3811699	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3926569	0.85[AMR][1000 genomes]
rs4459909	0.94[ASN][1000 genomes]
rs4625	0.85[AMR][1000 genomes]
rs4855842	0.84[ASN][1000 genomes]
rs4855843	0.83[ASN][1000 genomes]
rs4855873	0.94[ASN][1000 genomes]
rs4855877	0.94[ASN][1000 genomes]
rs55957735	0.92[ASN][1000 genomes]
rs6446264	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6446272	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446274	0.87[ASN][1000 genomes]
rs6446277	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67216675	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67485053	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6766131	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6766581	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6779524	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784820	0.94[ASN][1000 genomes]
rs6792911	0.86[ASN][1000 genomes]
rs6793308	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6797664	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6809216	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71324962	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7622302	0.83[AMR][1000 genomes]
rs7623659	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7630869	0.82[AMR][1000 genomes]
rs7633271	0.85[AMR][1000 genomes]
rs7643586	0.86[ASN][1000 genomes]
rs7646366	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7648841	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9814873	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9818590	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9821311	0.88[AMR][1000 genomes]
rs9827021	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9837027	0.83[AMR][1000 genomes]
rs9841110	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9850072	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9853683	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9858280	0.83[AMR][1000 genomes]
rs9858418	0.85[AMR][1000 genomes]
rs9859556	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9878943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9871380	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs9871380	FAM212A	cis	Muscle Skeletal	GTEx
rs9871380	IHPK2	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	chr3:49413200-49441400	Weak transcription	Aorta	Aorta
5	chr3:49413200-49443000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:49413200-49447400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:49413400-49439000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:49413600-49441000	Weak transcription	Fetal Brain Female	brain
9	chr3:49422200-49443000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:49424200-49443400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:49426000-49444000	Weak transcription	Esophagus	oesophagus
12	chr3:49426200-49443000	Weak transcription	NHLF	lung
13	chr3:49427000-49448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:49428800-49438600	Strong transcription	Fetal Stomach	stomach
15	chr3:49429000-49441800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:49429000-49447200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:49430800-49439200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:49431200-49447200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:49431800-49439600	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr3:49433800-49438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:49433800-49438600	Weak transcription	HMEC	breast
22	chr3:49433800-49444000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:49433800-49447200	Weak transcription	Colonic Mucosa	Colon
24	chr3:49434200-49438600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:49434200-49438800	Weak transcription	Fetal Intestine Large	intestine
26	chr3:49434200-49439400	Weak transcription	Fetal Lung	lung
27	chr3:49434200-49440800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:49434200-49442800	Weak transcription	Brain Germinal Matrix	brain
29	chr3:49434600-49440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:49434800-49439000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:49434800-49439000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:49434800-49441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:49434800-49443000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:49435200-49439000	Weak transcription	Brain Anterior Caudate	brain
35	chr3:49435400-49438400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:49435400-49438600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:49435400-49438800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr3:49435400-49439200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr3:49435400-49441200	Weak transcription	Stomach Mucosa	stomach
40	chr3:49435400-49442400	Strong transcription	Fetal Intestine Small	intestine
41	chr3:49435400-49445600	Weak transcription	Fetal Brain Male	brain
42	chr3:49435400-49447000	Weak transcription	HSMMtube	muscle
43	chr3:49435400-49447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:49435600-49438600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:49435600-49438800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr3:49435600-49439200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:49435600-49439200	Weak transcription	Fetal Heart	heart
48	chr3:49435600-49439600	Weak transcription	HUVEC	blood vessel
49	chr3:49435600-49443000	Weak transcription	NHDF-Ad	bronchial
50	chr3:49435600-49443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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