Variant report

Variant	rs11969223
Chromosome Location	chr6:70457918-70457919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11962504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11965589	1.00[ASN][1000 genomes]
rs11966214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966540	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11967076	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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]
rs11969244	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12111306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379454	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1563611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16867900	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868135	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902651	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1902653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[ASN][1000 genomes]
rs2445961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445965	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445967	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502556	1.00[ASN][1000 genomes]
rs2502557	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2502566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3214020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778243	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3799097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928194	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4457128	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55823739	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56310174	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57751010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58614233	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59256218	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59573217	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59727335	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60078953	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61572016	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6903952	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912049	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920889	0.82[YRI][hapmap]
rs6922658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6924226	0.96[ASN][1000 genomes]
rs6924743	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934740	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73469943	1.00[ASN][1000 genomes]
rs73481734	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481772	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485519	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485522	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485538	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485542	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485549	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486009	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73486032	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73745767	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7740306	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7747688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7750707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7763931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs980587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991973	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs991974	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv830682	chr6:70397851-70592883	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv3451372	chr6:70454531-70457929	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70380800-70467800	Weak transcription	K562	blood
2	chr6:70405000-70468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:70429000-70462400	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:70429000-70467600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:70431400-70498600	Weak transcription	Ovary	ovary
6	chr6:70432000-70468200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:70432000-70470400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:70432000-70470400	Weak transcription	Gastric	stomach
9	chr6:70432000-70479800	Weak transcription	Pancreas	Pancrea
10	chr6:70432200-70480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:70432600-70461600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:70435800-70498800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:70441200-70463400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:70442400-70498200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:70442400-70498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:70443000-70468000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:70444800-70461000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:70445000-70458400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:70445200-70458800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:70445200-70458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:70446000-70470400	Weak transcription	Psoas Muscle	Psoas
22	chr6:70447400-70459000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:70447800-70498400	Weak transcription	Placenta	Placenta
24	chr6:70448400-70458800	Weak transcription	Brain Anterior Caudate	brain
25	chr6:70448400-70470600	Weak transcription	Right Ventricle	heart
26	chr6:70448800-70489800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:70450600-70472000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:70450800-70487600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:70453800-70468600	Weak transcription	Small Intestine	intestine
30	chr6:70453800-70505600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:70454800-70459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:70454800-70459800	Weak transcription	HMEC	breast
33	chr6:70455000-70458200	Strong transcription	Fetal Thymus	thymus
34	chr6:70455400-70458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:70455400-70459400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:70455600-70461200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:70455600-70461800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:70455600-70462400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr6:70455800-70459600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:70455800-70461600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:70455800-70464600	Strong transcription	Primary B cells from cord blood	blood
42	chr6:70456400-70463200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:70456400-70483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:70456600-70458200	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:70456600-70458400	Weak transcription	Fetal Brain Male	brain
46	chr6:70456600-70458800	Weak transcription	Brain Angular Gyrus	brain
47	chr6:70456600-70458800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:70456600-70460600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:70456600-70461600	Weak transcription	Brain Substantia Nigra	brain
50	chr6:70456600-70462200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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