Variant report

Variant	rs11713505
Chromosome Location	chr3:140664563-140664564
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	chr3:140661553..140667904-chr3:140669879..140673651,7	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1047330	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs1056126	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1056127	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10935413	0.87[ASN][1000 genomes]
rs10935414	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs1109282	0.85[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1109283	0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11707116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11710204	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11710926	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711131	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713816	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs11714438	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715248	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717097	1.00[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11717620	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718040	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11718539	0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs11718563	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720342	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12489397	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs13063450	0.86[ASN][1000 genomes]
rs13099706	0.86[ASN][1000 genomes]
rs1568337	0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1593624	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850915	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16850917	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850921	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850924	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16850926	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081662	0.86[ASN][1000 genomes]
rs2292919	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2311491	0.84[ASN][1000 genomes]
rs2555702	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs2555707	0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2871615	0.85[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35140461	0.89[ASN][1000 genomes]
rs3755764	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755765	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773835	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773837	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773838	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380393	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4524250	0.88[ASN][1000 genomes]
rs4528914	0.84[ASN][1000 genomes]
rs4538351	0.85[ASN][1000 genomes]
rs57151068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57526660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57799705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59128309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59221985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61052022	0.92[EUR][1000 genomes]
rs61151473	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61629363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61708145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439962	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6439964	0.86[ASN][1000 genomes]
rs6764740	0.84[ASN][1000 genomes]
rs6770562	0.83[ASN][1000 genomes]
rs6772634	0.86[ASN][1000 genomes]
rs6773249	0.86[ASN][1000 genomes]
rs6785007	0.89[ASN][1000 genomes]
rs6785892	0.86[ASN][1000 genomes]
rs6788711	0.86[ASN][1000 genomes]
rs6789045	0.83[ASN][1000 genomes]
rs6789116	0.84[ASN][1000 genomes]
rs6797079	0.86[ASN][1000 genomes]
rs6810200	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991025	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72991046	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7621150	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs7626525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7632043	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7637899	0.85[CEU][hapmap]
rs7638206	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7643287	0.88[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7643434	0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7643614	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs7644725	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs7649116	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs765990	0.86[ASN][1000 genomes]
rs877142	0.94[CHB][hapmap];0.89[ASN][1000 genomes]
rs957093	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591865	chr3:140396022-140728850	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1005522	chr3:140454632-140685915	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv536732	chr3:140454632-140685915	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv521218	chr3:140643038-140665147	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3364537	chr3:140646303-140668571	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1793115	chr3:140663107-140693053	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11713505	SLC25A36	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140659600-140664600	Active TSS	GM12878-XiMat	blood
2	chr3:140661800-140697200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:140662000-140665000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:140662200-140665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:140662200-140665400	Weak transcription	Gastric	stomach
6	chr3:140662200-140669600	Weak transcription	Pancreas	Pancrea
7	chr3:140662200-140670400	Weak transcription	Lung	lung
8	chr3:140662200-140675400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:140662200-140676800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:140662200-140696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:140662400-140665000	Enhancers	Colon Smooth Muscle	Colon
12	chr3:140662400-140666000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:140662400-140666000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr3:140662400-140669600	Weak transcription	Left Ventricle	heart
15	chr3:140662400-140677000	Weak transcription	Fetal Thymus	thymus
16	chr3:140662400-140679000	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:140662400-140692200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:140662600-140665200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:140662600-140665600	Enhancers	Fetal Heart	heart
20	chr3:140662600-140667600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:140662600-140672400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:140662600-140696800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:140662800-140664600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:140662800-140665400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:140662800-140677200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:140662800-140679200	Weak transcription	HSMMtube	muscle
27	chr3:140662800-140682200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:140662800-140695800	Weak transcription	NHLF	lung
29	chr3:140663000-140664600	Enhancers	Fetal Lung	lung
30	chr3:140663000-140665000	Weak transcription	Stomach Mucosa	stomach
31	chr3:140663000-140666200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:140663000-140673200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:140663000-140681600	Weak transcription	NH-A	brain
34	chr3:140663200-140664600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:140663200-140665000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:140663200-140665600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:140663200-140676400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:140663200-140692600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:140663200-140696000	Weak transcription	Fetal Stomach	stomach
40	chr3:140663400-140664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:140663400-140664600	Enhancers	HSMM	muscle
42	chr3:140663400-140665000	Weak transcription	Brain Germinal Matrix	brain
43	chr3:140663400-140665000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:140663400-140665400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr3:140663400-140667800	Weak transcription	Brain Angular Gyrus	brain
46	chr3:140663400-140668800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:140663400-140669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:140663400-140672600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:140663400-140697400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:140663600-140664800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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