Variant report

Variant	rs513137
Chromosome Location	chr11:74502020-74502021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74491588..74493349-chr11:74499824..74502526,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11236269	0.86[AMR][1000 genomes]
rs11605604	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12363224	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1282460	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1282461	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1282689	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1282690	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1282692	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs1292895	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1297319	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1303525	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1315297	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1583342	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2028343	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2028344	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2033532	0.91[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41531051	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471462	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473080	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs473256	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs480840	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs483615	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944945	0.92[YRI][hapmap];0.82[AFR][1000 genomes]
rs495246	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs497772	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs502225	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs505688	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs508319	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs511021	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs511890	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs512780	0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs519741	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs527529	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs529249	0.86[AMR][1000 genomes]
rs529488	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs537054	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs538502	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs543244	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs546643	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs550491	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs550869	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs550980	0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs557483	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs561589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs562265	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs565767	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567956	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs568558	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs568758	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs571446	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs573925	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs577063	0.83[EUR][1000 genomes]
rs577102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs580142	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs590105	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs599722	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs603062	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs614832	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs616085	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs624786	0.92[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs625268	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs629573	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs641584	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs643807	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs646287	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs688665	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9444	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs997465	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	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
7	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs513137	XRRA1	cis	Esophagus Mucosa	GTEx
rs513137	XRRA1	cis	Muscle Skeletal	GTEx
rs513137	XRRA1	cis	Adipose Subcutaneous	GTEx
rs513137	XRRA1	cis	Thyroid	GTEx
rs513137	XRRA1	cis	Whole Blood	GTEx
rs513137	XRRA1	cis	lung	GTEx
rs513137	XRRA1	cis	Artery Tibial	GTEx
rs513137	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs513137	RP11-147I3.1	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74485200-74502600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:74488400-74503800	Weak transcription	Stomach Mucosa	stomach
3	chr11:74492200-74502400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:74494800-74530600	Weak transcription	NH-A	brain
5	chr11:74496000-74508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:74496000-74518200	Weak transcription	Psoas Muscle	Psoas
7	chr11:74496200-74507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:74496200-74533000	Weak transcription	Fetal Brain Male	brain
9	chr11:74498000-74505200	Weak transcription	Fetal Heart	heart
10	chr11:74498400-74504000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:74500000-74506200	Strong transcription	Primary T cells from cord blood	blood
12	chr11:74500000-74508600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:74500200-74505400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:74500400-74504600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:74500400-74506000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:74500600-74502400	Strong transcription	Fetal Intestine Large	intestine
17	chr11:74500600-74503200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:74500600-74504200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:74500600-74504200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:74500600-74506600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:74500600-74508600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:74500600-74509200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:74500800-74502400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr11:74500800-74502600	Strong transcription	HUVEC	blood vessel
25	chr11:74500800-74502800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr11:74500800-74502800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:74500800-74502800	ZNF genes & repeats	GM12878-XiMat	blood
28	chr11:74500800-74502800	Strong transcription	NHDF-Ad	bronchial
29	chr11:74500800-74503000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:74500800-74503000	Strong transcription	Left Ventricle	heart
31	chr11:74500800-74503000	ZNF genes & repeats	Dnd41	blood
32	chr11:74500800-74503000	Strong transcription	NHLF	lung
33	chr11:74500800-74503200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:74500800-74503800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:74500800-74503800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:74500800-74503800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:74500800-74504000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:74500800-74504200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:74500800-74504200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:74500800-74504200	Strong transcription	Brain Angular Gyrus	brain
41	chr11:74500800-74504200	Strong transcription	Esophagus	oesophagus
42	chr11:74500800-74504200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:74500800-74504400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:74500800-74504400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:74500800-74504400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:74500800-74504400	Strong transcription	Adipose Nuclei	Adipose
47	chr11:74500800-74504400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:74500800-74504400	Strong transcription	A549	lung
49	chr11:74500800-74504400	Strong transcription	NHEK	skin
50	chr11:74500800-74504600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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