Variant report

Variant	rs6863547
Chromosome Location	chr5:37626921-37626922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10038414	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10038482	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10039768	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10042970	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10043213	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10050392	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050932	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051811	1.00[EUR][1000 genomes]
rs10053094	1.00[CEU][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10055123	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10055301	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10055334	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10055747	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10058062	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10058348	1.00[MEX][hapmap]
rs10059214	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10060693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10063001	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10067239	1.00[EUR][1000 genomes]
rs10067869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10069946	1.00[MEX][hapmap]
rs10070366	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10071967	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10072326	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs10074536	1.00[EUR][1000 genomes]
rs10075851	1.00[CEU][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10076872	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078503	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10473048	1.00[MEX][hapmap]
rs10491332	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1104717	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1104718	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11739318	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11742290	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12186464	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12332422	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12332493	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523118	1.00[EUR][1000 genomes]
rs12656455	1.00[EUR][1000 genomes]
rs13160250	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13166616	1.00[EUR][1000 genomes]
rs13175777	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13355660	1.00[EUR][1000 genomes]
rs1400855	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1554969	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903615	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903667	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903675	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903689	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903703	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs16903704	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16903706	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903711	1.00[CEU][hapmap]
rs1829294	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1973713	1.00[EUR][1000 genomes]
rs2056869	1.00[EUR][1000 genomes]
rs2142324	1.00[EUR][1000 genomes]
rs2366172	1.00[EUR][1000 genomes]
rs2366175	1.00[EUR][1000 genomes]
rs28876205	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34871356	1.00[EUR][1000 genomes]
rs4074950	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4242249	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4242250	1.00[EUR][1000 genomes]
rs4334908	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4370304	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4395662	1.00[EUR][1000 genomes]
rs4407651	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4407652	1.00[EUR][1000 genomes]
rs4418127	1.00[EUR][1000 genomes]
rs4449561	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4470784	1.00[EUR][1000 genomes]
rs4499858	1.00[EUR][1000 genomes]
rs4607372	1.00[EUR][1000 genomes]
rs475517	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs481834	1.00[EUR][1000 genomes]
rs4869431	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4869432	1.00[EUR][1000 genomes]
rs4869434	1.00[EUR][1000 genomes]
rs4869506	1.00[EUR][1000 genomes]
rs4869508	1.00[EUR][1000 genomes]
rs488315	1.00[EUR][1000 genomes]
rs489123	1.00[EUR][1000 genomes]
rs563999	1.00[EUR][1000 genomes]
rs587641	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs59176360	1.00[EUR][1000 genomes]
rs596461	1.00[EUR][1000 genomes]
rs61748201	1.00[EUR][1000 genomes]
rs626649	1.00[EUR][1000 genomes]
rs6451316	1.00[EUR][1000 genomes]
rs6451317	1.00[EUR][1000 genomes]
rs6451318	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6451332	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs671077	1.00[EUR][1000 genomes]
rs6859972	1.00[EUR][1000 genomes]
rs6861640	1.00[CEU][hapmap]
rs6863124	1.00[EUR][1000 genomes]
rs6868163	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6868843	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6869205	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6876447	1.00[EUR][1000 genomes]
rs6888597	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6898035	1.00[EUR][1000 genomes]
rs6898225	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6898271	0.92[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7702750	1.00[EUR][1000 genomes]
rs7703638	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7703670	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7704548	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7708301	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7708708	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710547	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7714066	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7719190	1.00[EUR][1000 genomes]
rs7723389	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7724308	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7724686	1.00[EUR][1000 genomes]
rs7725018	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7725049	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7725297	1.00[EUR][1000 genomes]
rs7727291	1.00[EUR][1000 genomes]
rs7727356	1.00[EUR][1000 genomes]
rs7727603	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7729195	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7729506	1.00[EUR][1000 genomes]
rs7732315	1.00[EUR][1000 genomes]
rs7734593	1.00[EUR][1000 genomes]
rs7735454	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7736605	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7736862	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7737210	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7737986	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8180378	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9292657	1.00[MEX][hapmap]
rs9292658	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292659	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292660	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292661	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292663	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs951579	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs971785	1.00[EUR][1000 genomes]
rs974432	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak 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	23 gene(s)	inside rSNPs	diseases
7	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1034094	chr5:37406859-37666704	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv537731	chr5:37406859-37666704	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv880890	chr5:37443079-37681646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6863547	MOXD1	trans	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37588800-37628000	Weak transcription	Ovary	ovary
2	chr5:37600800-37627200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:37601600-37628600	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:37602000-37630800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:37602800-37628000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:37603600-37627600	Weak transcription	Liver	Liver
7	chr5:37603600-37628000	Weak transcription	Thymus	Thymus
8	chr5:37604000-37627200	Weak transcription	Lung	lung
9	chr5:37604800-37630400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:37605000-37628800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:37605400-37628800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:37606200-37629000	Weak transcription	Fetal Thymus	thymus
13	chr5:37606400-37637800	Weak transcription	Esophagus	oesophagus
14	chr5:37607200-37628000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:37608200-37627200	Weak transcription	Left Ventricle	heart
16	chr5:37609400-37627400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:37610000-37627800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:37613800-37637600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:37615800-37628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:37616200-37630200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:37616200-37639400	Weak transcription	Fetal Heart	heart
22	chr5:37618600-37629200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:37619400-37632000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:37619600-37627200	Weak transcription	Fetal Stomach	stomach
25	chr5:37619600-37629000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:37619800-37627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:37619800-37629200	Weak transcription	Osteobl	bone
28	chr5:37619800-37630800	Weak transcription	Gastric	stomach
29	chr5:37620200-37629200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:37621200-37627400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:37621200-37627400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:37621200-37627400	Weak transcription	Psoas Muscle	Psoas
33	chr5:37621200-37628000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:37621400-37627400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:37621600-37627200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:37621600-37627400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:37624800-37627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:37625000-37636800	Weak transcription	Colonic Mucosa	Colon
39	chr5:37625600-37627200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:37626000-37627200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:37626200-37627200	Weak transcription	Fetal Lung	lung
42	chr5:37626200-37630600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:37626600-37630200	Weak transcription	Pancreas	Pancrea
44	chr5:37626800-37628000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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