Variant report

Variant	rs6446264
Chromosome Location	chr3:49417243-49417244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1050450	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10640	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11706370	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11711485	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11711536	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11712569	0.82[AMR][1000 genomes]
rs11715915	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11716974	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11719996	0.85[AMR][1000 genomes]
rs11922013	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11926781	0.80[AMR][1000 genomes]
rs12330269	0.85[AMR][1000 genomes]
rs13079082	0.80[AMR][1000 genomes]
rs13079643	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13086611	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13087851	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13090388	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080528	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17595772	0.94[ASN][1000 genomes]
rs17650792	0.94[ASN][1000 genomes]
rs1800668	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801143	0.80[AMR][1000 genomes]
rs1987628	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2117939	0.90[ASN][1000 genomes]
rs2878298	0.94[ASN][1000 genomes]
rs34196454	0.82[AMR][1000 genomes]
rs34293138	0.82[AMR][1000 genomes]
rs34363169	0.85[AMR][1000 genomes]
rs34427167	0.80[AMR][1000 genomes]
rs34588335	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35115732	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35169793	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35261698	0.83[AMR][1000 genomes]
rs3811699	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3926569	0.83[AMR][1000 genomes]
rs4625	0.80[AMR][1000 genomes]
rs4955412	0.94[ASN][1000 genomes]
rs4955438	0.82[ASN][1000 genomes]
rs62259939	0.94[ASN][1000 genomes]
rs62259942	0.83[ASN][1000 genomes]
rs6446272	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6446277	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67216675	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67485053	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6766131	0.83[AMR][1000 genomes]
rs6766581	0.85[AMR][1000 genomes]
rs6779524	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6792911	0.82[ASN][1000 genomes]
rs6793308	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797664	0.85[AMR][1000 genomes]
rs6797765	0.94[ASN][1000 genomes]
rs6809216	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71324962	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7373849	0.87[ASN][1000 genomes]
rs7621003	0.94[ASN][1000 genomes]
rs7622302	0.82[AMR][1000 genomes]
rs7623659	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630869	0.81[AMR][1000 genomes]
rs7631908	0.88[ASN][1000 genomes]
rs7633271	0.83[AMR][1000 genomes]
rs7643586	0.82[ASN][1000 genomes]
rs7646366	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7648841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814873	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9818590	0.83[AMR][1000 genomes]
rs9821311	0.83[AMR][1000 genomes]
rs9827021	0.83[AMR][1000 genomes]
rs9841110	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9850072	0.85[AMR][1000 genomes]
rs9853683	0.85[AMR][1000 genomes]
rs9858418	0.80[AMR][1000 genomes]
rs9859556	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9871380	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9878943	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6446264	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs6446264	IHPK2	Cis_1M	lymphoblastoid	RTeQTL
rs6446264	FAM212A	cis	Muscle Skeletal	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49396400-49418600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:49396800-49438800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:49397200-49423800	Weak transcription	Fetal Heart	heart
4	chr3:49399000-49448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:49406000-49445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:49410600-49421800	Weak transcription	K562	blood
7	chr3:49411000-49434600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:49411200-49418800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:49411200-49423200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:49411200-49423800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:49413000-49418800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:49413000-49421600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:49413000-49422000	Weak transcription	Pancreas	Pancrea
14	chr3:49413000-49423200	Weak transcription	Brain Anterior Caudate	brain
15	chr3:49413000-49423800	Weak transcription	HUVEC	blood vessel
16	chr3:49413200-49417800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:49413200-49419800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:49413200-49423200	Weak transcription	Primary T cells from cord blood	blood
19	chr3:49413200-49423200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:49413200-49423200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:49413200-49425400	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:49413200-49425600	Weak transcription	Hela-S3	cervix
23	chr3:49413200-49431800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr3:49413200-49432000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:49413200-49432000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:49413200-49432000	Weak transcription	Fetal Kidney	kidney
27	chr3:49413200-49433200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:49413200-49435000	Weak transcription	Brain Angular Gyrus	brain
29	chr3:49413200-49441400	Weak transcription	Aorta	Aorta
30	chr3:49413200-49443000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:49413200-49447400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:49413400-49417400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:49413400-49423200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:49413400-49425400	Weak transcription	Thymus	Thymus
35	chr3:49413400-49425400	Weak transcription	Dnd41	blood
36	chr3:49413400-49425600	Weak transcription	Fetal Intestine Large	intestine
37	chr3:49413400-49431800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:49413400-49433600	Weak transcription	Brain Germinal Matrix	brain
39	chr3:49413400-49439000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:49413600-49418400	Weak transcription	HepG2	liver
41	chr3:49413600-49418600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:49413600-49418800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:49413600-49430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:49413600-49432000	Weak transcription	Fetal Lung	lung
45	chr3:49413600-49433200	Weak transcription	Colonic Mucosa	Colon
46	chr3:49413600-49441000	Weak transcription	Fetal Brain Female	brain
47	chr3:49413800-49425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:49414400-49417800	ZNF genes & repeats	GM12878-XiMat	blood
49	chr3:49414400-49423200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:49414600-49417600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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