Variant report

Variant	rs12111306
Chromosome Location	chr6:70389764-70389765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11962504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964740	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11965589	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11966214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966540	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967076	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11967207	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11967736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969169	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs11969223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11969244	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379454	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1457496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1563611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867900	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868135	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902651	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445965	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502556	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2502557	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502565	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2502566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3214020	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]
rs3778243	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3928194	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55823739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56310174	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57751010	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57897217	0.83[AFR][1000 genomes]
rs58614233	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59256218	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59573217	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59727335	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60078953	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60480225	0.83[AFR][1000 genomes]
rs61572016	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903952	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905740	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6912049	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920889	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6922658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924226	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6924743	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934740	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936974	0.83[YRI][hapmap]
rs73469943	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73469973	0.84[AFR][1000 genomes]
rs73471802	0.83[AFR][1000 genomes]
rs73481734	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481772	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485519	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485522	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485538	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485542	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485549	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486009	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73486032	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73745767	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7740306	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7750707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7758646	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7763293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991973	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs991974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70377600-70392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:70378400-70392600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:70378800-70407400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:70378800-70409600	Weak transcription	Brain Substantia Nigra	brain
5	chr6:70378800-70416800	Weak transcription	Fetal Kidney	kidney
6	chr6:70378800-70430800	Weak transcription	Fetal Stomach	stomach
7	chr6:70378800-70430800	Weak transcription	Spleen	Spleen
8	chr6:70378800-70435200	Weak transcription	Psoas Muscle	Psoas
9	chr6:70379000-70428400	Weak transcription	Ovary	ovary
10	chr6:70379000-70435400	Weak transcription	Fetal Brain Male	brain
11	chr6:70379200-70390200	Weak transcription	HSMM	muscle
12	chr6:70379600-70431000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:70380000-70390600	Weak transcription	Thymus	Thymus
14	chr6:70380000-70390800	Weak transcription	Pancreas	Pancrea
15	chr6:70380200-70391000	Strong transcription	Primary B cells from cord blood	blood
16	chr6:70380200-70392800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:70380200-70407600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:70380400-70390800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:70380400-70430600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:70380600-70455600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:70380800-70402800	Weak transcription	NHDF-Ad	bronchial
22	chr6:70380800-70467800	Weak transcription	K562	blood
23	chr6:70382000-70406400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:70382200-70435400	Weak transcription	Brain Angular Gyrus	brain
25	chr6:70382400-70430200	Weak transcription	Small Intestine	intestine
26	chr6:70382800-70403400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:70383800-70407800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:70383800-70431000	Weak transcription	Lung	lung
29	chr6:70384000-70415800	Weak transcription	Fetal Lung	lung
30	chr6:70384200-70428400	Weak transcription	Aorta	Aorta
31	chr6:70384200-70431000	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:70384400-70405200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:70384400-70405600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:70384400-70407200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:70384600-70406400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:70384600-70407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:70384600-70407800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:70384600-70409800	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:70384600-70417400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:70384800-70406400	Weak transcription	GM12878-XiMat	blood
41	chr6:70385000-70394400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:70385000-70406400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:70385000-70407600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:70385000-70421600	Weak transcription	Fetal Intestine Large	intestine
45	chr6:70385200-70391000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:70385200-70406200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr6:70386200-70390600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:70386200-70403400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:70386400-70403200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:70386400-70408000	Weak transcription	Placenta	Placenta

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