Variant report

Variant	rs13086611
Chromosome Location	chr3:49385417-49385418
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49376089..49379418-chr3:49384584..49389123,6	K562	blood:
2	chr3:49376745..49379298-chr3:49384391..49386630,2	K562	blood:

Variant related genes	Relation type
ENSG00000114316	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1050450	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10640	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11706370	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11711485	0.84[AMR][1000 genomes]
rs11711536	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11715915	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11716974	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11922013	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13079643	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13087851	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13090388	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17080528	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17595772	0.94[ASN][1000 genomes]
rs17650792	0.94[ASN][1000 genomes]
rs1800668	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1987628	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2117939	0.90[ASN][1000 genomes]
rs2878298	0.94[ASN][1000 genomes]
rs34588335	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35115732	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35169793	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3811699	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][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]
rs6446264	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446272	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6446277	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67216675	0.84[AMR][1000 genomes]
rs67485053	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6779524	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6792911	0.83[ASN][1000 genomes]
rs6793308	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6797765	0.94[ASN][1000 genomes]
rs6809216	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6997	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71324962	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7373849	0.87[ASN][1000 genomes]
rs7621003	0.94[ASN][1000 genomes]
rs7623659	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7631908	0.88[ASN][1000 genomes]
rs7643586	0.83[ASN][1000 genomes]
rs7646366	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7648841	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9814873	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9841110	0.84[AMR][1000 genomes]
rs9859556	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9871380	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9878943	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13086611	FAM212A	cis	Muscle Skeletal	GTEx
rs13086611	IHPK2	Cis_1M	lymphoblastoid	RTeQTL
rs13086611	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49378600-49386400	Weak transcription	K562	blood
2	chr3:49378600-49386600	Weak transcription	Stomach Mucosa	stomach
3	chr3:49378600-49386800	Weak transcription	Gastric	stomach
4	chr3:49378600-49388400	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:49378600-49388800	Weak transcription	Brain Substantia Nigra	brain
6	chr3:49378600-49388800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:49378600-49390000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:49378600-49392000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:49378800-49386800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:49378800-49387400	Weak transcription	Esophagus	oesophagus
11	chr3:49379000-49385800	Weak transcription	Fetal Intestine Large	intestine
12	chr3:49379000-49385800	Weak transcription	Fetal Intestine Small	intestine
13	chr3:49379000-49392000	Weak transcription	Left Ventricle	heart
14	chr3:49379800-49386600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:49379800-49392800	Weak transcription	Thymus	Thymus
16	chr3:49380400-49385800	Enhancers	Placenta	Placenta
17	chr3:49381400-49388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:49381600-49393000	Weak transcription	Right Atrium	heart
19	chr3:49382200-49386400	Weak transcription	Liver	Liver
20	chr3:49382200-49388200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:49382600-49385600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:49383000-49385600	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:49383000-49385800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:49383000-49386400	Enhancers	Primary B cells from cord blood	blood
25	chr3:49383000-49386800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:49383000-49388800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:49383000-49388800	Weak transcription	Fetal Thymus	thymus
28	chr3:49383000-49389200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:49383000-49389400	Weak transcription	Spleen	Spleen
30	chr3:49383000-49393600	Weak transcription	Primary T cells from cord blood	blood
31	chr3:49383200-49391800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:49383200-49392400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:49383400-49388200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:49383400-49388200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:49383400-49389000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:49383400-49391400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:49383600-49388600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr3:49384000-49388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:49384400-49386400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr3:49384400-49388200	Weak transcription	NHLF	lung
41	chr3:49384600-49386800	Weak transcription	HUVEC	blood vessel
42	chr3:49384600-49387400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr3:49384600-49388200	Weak transcription	HSMM	muscle
44	chr3:49384600-49388800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:49384600-49388800	Weak transcription	HSMMtube	muscle
46	chr3:49384600-49389000	Weak transcription	NH-A	brain
47	chr3:49384600-49392000	Weak transcription	Fetal Muscle Leg	muscle
48	chr3:49384600-49392400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr3:49384800-49386200	Weak transcription	HepG2	liver
50	chr3:49384800-49386400	Weak transcription	Primary hematopoietic stem cells	blood

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