Variant report

Variant	rs1315297
Chromosome Location	chr11:74602181-74602182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11236269	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11605604	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12363224	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1282460	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1282461	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1282689	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1282690	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1282692	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1282695	0.81[ASN][1000 genomes]
rs1292895	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1297319	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1583342	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2028343	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2028344	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2033532	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41531051	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs471462	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs473080	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs473256	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs480840	0.89[ASN][1000 genomes]
rs483615	0.81[AMR][1000 genomes]
rs495246	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs502225	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs505688	0.81[AMR][1000 genomes]
rs508319	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs511021	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs511890	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs513137	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs519741	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs527529	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs529249	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs529488	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs537054	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs538502	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs543244	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs546643	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs550491	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs550869	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs550980	0.87[ASN][1000 genomes]
rs557483	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs561589	0.81[AMR][1000 genomes]
rs562265	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs565767	0.81[AMR][1000 genomes]
rs567956	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs568558	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs568758	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs571446	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs573925	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs580142	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs590105	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs599722	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs603062	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs614832	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs616085	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs624786	0.88[AMR][1000 genomes]
rs625268	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629573	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs641584	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs643807	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs646287	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs688665	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9444	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1315297	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs1315297	RP11-147I3.1	cis	Thyroid	GTEx
rs1315297	XRRA1	cis	Whole Blood	GTEx
rs1315297	XRRA1	cis	Esophagus Mucosa	GTEx
rs1315297	XRRA1	cis	Muscle Skeletal	GTEx
rs1315297	XRRA1	cis	Artery Tibial	GTEx
rs1315297	XRRA1	cis	lung	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74586400-74604800	Weak transcription	Fetal Heart	heart
2	chr11:74587400-74611800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:74587400-74629600	Weak transcription	Gastric	stomach
4	chr11:74588400-74605400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:74588400-74606200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:74588400-74630600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:74588400-74636000	Weak transcription	NHLF	lung
8	chr11:74591800-74606000	Weak transcription	Right Ventricle	heart
9	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
10	chr11:74595600-74606600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:74595800-74605200	Weak transcription	Brain Anterior Caudate	brain
12	chr11:74595800-74611800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:74596200-74605000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:74596200-74606200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:74596400-74606200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:74596400-74612000	Weak transcription	HSMM	muscle
17	chr11:74596800-74604800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:74596800-74619000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:74597600-74606200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:74598000-74603000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:74598000-74606600	Weak transcription	Psoas Muscle	Psoas
22	chr11:74598000-74606800	Weak transcription	Left Ventricle	heart
23	chr11:74598200-74604600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:74598200-74604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:74598200-74606200	Weak transcription	NHEK	skin
26	chr11:74598200-74609800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:74598200-74615200	Weak transcription	Osteobl	bone
28	chr11:74598400-74604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:74598400-74606200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:74598400-74606400	Weak transcription	Primary B cells from cord blood	blood
31	chr11:74598400-74611800	Weak transcription	Dnd41	blood
32	chr11:74598400-74629600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:74598800-74607400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:74599000-74605000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:74599000-74606200	Weak transcription	Thymus	Thymus
36	chr11:74599000-74606800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:74599000-74607000	Weak transcription	Ovary	ovary
38	chr11:74599000-74611800	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:74599200-74604800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:74599200-74604800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:74599200-74605400	Weak transcription	Aorta	Aorta
42	chr11:74599200-74606200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:74599200-74606200	Weak transcription	Fetal Intestine Large	intestine
44	chr11:74599200-74606600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:74599200-74607400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:74599200-74611600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:74599200-74619400	Weak transcription	Colonic Mucosa	Colon
48	chr11:74599400-74604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:74599400-74605600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:74599400-74606200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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