Variant report

Variant	rs12208359
Chromosome Location	chr6:167458455-167458456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167453011..167457183-chr6:167458189..167461851,4	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10455982	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10484530	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10484531	0.86[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1060404	0.89[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10946203	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10946204	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946205	0.82[AMR][1000 genomes]
rs10946207	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10946208	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12178491	0.87[EUR][1000 genomes]
rs12193698	0.85[EUR][1000 genomes]
rs12203510	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12209395	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12212247	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12213683	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12523712	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12526548	0.85[AMR][1000 genomes]
rs12527827	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12528323	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12528689	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12529238	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12529876	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12529959	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13195812	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13204839	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13208636	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13210649	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13213249	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1322077	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1358882	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1358883	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1407315	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17524252	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17615336	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1794696	0.86[ASN][1000 genomes]
rs1810644	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1810645	0.81[AMR][1000 genomes]
rs1894603	0.85[AMR][1000 genomes]
rs2001114	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2001115	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2017338	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2038580	0.84[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2181058	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2181059	0.82[AMR][1000 genomes]
rs2237272	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2237273	0.80[AMR][1000 genomes]
rs2237274	0.94[JPT][hapmap]
rs2237276	0.83[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2237277	0.81[AMR][1000 genomes]
rs2239823	0.85[EUR][1000 genomes]
rs2239826	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2239827	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2282860	0.82[AMR][1000 genomes]
rs2282861	0.82[AMR][1000 genomes]
rs2285147	0.82[AMR][1000 genomes]
rs2285148	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2301436	0.85[AMR][1000 genomes]
rs239933	0.81[AMR][1000 genomes]
rs239935	0.88[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs35171809	0.83[AMR][1000 genomes]
rs3752520	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs398278	0.81[ASN][1000 genomes]
rs404222	0.86[ASN][1000 genomes]
rs408080	0.83[ASN][1000 genomes]
rs427824	0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs444988	0.80[ASN][1000 genomes]
rs4710171	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4710175	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4710176	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4710185	0.81[CHB][hapmap]
rs62436765	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6456143	0.82[AMR][1000 genomes]
rs6456146	0.85[AMR][1000 genomes]
rs6456149	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6456150	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6456151	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6456152	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6456153	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6456154	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6900701	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6902119	0.81[AMR][1000 genomes]
rs6904946	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6907666	0.80[CEU][hapmap]
rs6909180	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6909475	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6909502	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6918286	0.81[AMR][1000 genomes]
rs6920858	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6921588	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6923582	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6929466	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6932740	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6934043	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6936261	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs720325	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7742305	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7748224	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7749278	0.82[AMR][1000 genomes]
rs7761977	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7762156	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7766242	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs911632	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs916331	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9295384	0.85[AMR][1000 genomes]
rs9295385	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9457249	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9457251	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9457252	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9457254	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9457256	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9457257	0.85[AMR][1000 genomes]
rs9457258	0.81[AMR][1000 genomes]
rs9457259	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9457260	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9457261	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9457268	0.81[AMR][1000 genomes]
rs9459835	0.84[AMR][1000 genomes]
rs9459836	0.82[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9459838	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9459839	0.85[AMR][1000 genomes]
rs9459840	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9459841	0.87[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9459842	0.82[AMR][1000 genomes]
rs9459845	0.85[AMR][1000 genomes]
rs9459846	0.85[AMR][1000 genomes]
rs9459849	0.86[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9459853	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9459854	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9459855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9459862	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9459872	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
9	nsv464140	chr6:167426681-167492552	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv886943	chr6:167440244-167502638	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv519550	chr6:167450609-167473685	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12208359	RNASET2	cis	Whole Blood	GTEx
rs12208359	AL133458.1	cis	Whole Blood	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167440400-167459400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:167441000-167461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:167441400-167473400	Weak transcription	Psoas Muscle	Psoas
4	chr6:167445600-167460200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:167448200-167459000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:167448200-167459800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:167448200-167467200	Weak transcription	HMEC	breast
8	chr6:167448400-167467200	Weak transcription	NHEK	skin
9	chr6:167448800-167460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:167449000-167459400	Weak transcription	Fetal Kidney	kidney
11	chr6:167449000-167467800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:167449000-167470400	Weak transcription	Brain Anterior Caudate	brain
13	chr6:167449800-167459600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:167449800-167462800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:167450000-167459200	Weak transcription	Small Intestine	intestine
16	chr6:167450000-167460800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:167450000-167467400	Weak transcription	Ovary	ovary
18	chr6:167450200-167463000	Weak transcription	Brain Germinal Matrix	brain
19	chr6:167450600-167460600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:167450600-167463000	Weak transcription	Fetal Brain Female	brain
21	chr6:167451200-167460200	Weak transcription	Placenta	Placenta
22	chr6:167451600-167461600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:167451600-167462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:167451600-167463600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:167451600-167467000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:167451600-167467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:167451600-167468400	Weak transcription	Esophagus	oesophagus
28	chr6:167452000-167458600	Weak transcription	Fetal Brain Male	brain
29	chr6:167452000-167460000	Weak transcription	Stomach Mucosa	stomach
30	chr6:167453800-167460200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:167454000-167460200	Weak transcription	Fetal Thymus	thymus
32	chr6:167454000-167460200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:167454000-167463400	Weak transcription	Aorta	Aorta
34	chr6:167454000-167464600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:167454200-167459600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:167454200-167459800	Weak transcription	Fetal Lung	lung
37	chr6:167454200-167462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:167454400-167461600	Weak transcription	A549	lung
39	chr6:167454400-167463200	Weak transcription	Brain Substantia Nigra	brain
40	chr6:167454600-167464400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:167454800-167459800	Strong transcription	Fetal Intestine Small	intestine
42	chr6:167455000-167459000	Weak transcription	K562	blood
43	chr6:167455000-167459800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:167455000-167462600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:167455000-167462800	Weak transcription	HSMM	muscle
46	chr6:167455000-167470600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:167455200-167458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:167455200-167467600	Weak transcription	Liver	Liver
49	chr6:167455400-167459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:167455400-167459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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