Variant report

Variant	rs6493063
Chromosome Location	chr15:43055073-43055074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10162939	0.80[EUR][1000 genomes]
rs10400824	0.85[EUR][1000 genomes]
rs10438302	1.00[CEU][hapmap]
rs1197550	0.80[EUR][1000 genomes]
rs1197551	0.80[EUR][1000 genomes]
rs12102055	0.87[EUR][1000 genomes]
rs12905385	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12906497	0.95[EUR][1000 genomes]
rs12907826	0.80[EUR][1000 genomes]
rs12912064	0.84[EUR][1000 genomes]
rs12917018	0.95[EUR][1000 genomes]
rs13329197	0.88[ASN][1000 genomes]
rs16957020	0.86[EUR][1000 genomes]
rs16957043	1.00[CEU][hapmap]
rs16957091	0.93[EUR][1000 genomes]
rs16957104	0.91[EUR][1000 genomes]
rs16957168	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1915241	0.94[EUR][1000 genomes]
rs1995939	0.91[EUR][1000 genomes]
rs2136899	0.83[ASN][1000 genomes]
rs2136900	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2280048	0.89[EUR][1000 genomes]
rs2305084	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305085	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2412740	0.89[EUR][1000 genomes]
rs2412741	0.81[EUR][1000 genomes]
rs28498538	0.83[ASN][1000 genomes]
rs28549876	0.95[EUR][1000 genomes]
rs28562951	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28620320	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28744617	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28798437	0.85[EUR][1000 genomes]
rs28811114	0.84[EUR][1000 genomes]
rs28823029	0.84[EUR][1000 genomes]
rs3199486	0.91[EUR][1000 genomes]
rs3742987	0.94[EUR][1000 genomes]
rs3742988	0.81[EUR][1000 genomes]
rs3742993	0.83[ASN][1000 genomes]
rs4265781	0.95[EUR][1000 genomes]
rs4924691	0.84[EUR][1000 genomes]
rs6493059	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6493062	0.82[EUR][1000 genomes]
rs6493066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66681258	0.84[EUR][1000 genomes]
rs67391479	0.82[EUR][1000 genomes]
rs7163030	0.82[EUR][1000 genomes]
rs7166632	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7166775	0.92[EUR][1000 genomes]
rs7167392	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7169009	0.95[EUR][1000 genomes]
rs7169202	0.81[EUR][1000 genomes]
rs7174041	0.80[EUR][1000 genomes]
rs7175582	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7176860	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7182141	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731984	0.80[EUR][1000 genomes]
rs8023524	0.82[EUR][1000 genomes]
rs8026233	0.95[EUR][1000 genomes]
rs8027427	0.95[EUR][1000 genomes]
rs8034447	0.81[EUR][1000 genomes]
rs8034664	0.89[EUR][1000 genomes]
rs9269	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9783713	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9919994	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9920163	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv977054	chr15:43015821-43171355	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43029800-43071000	Weak transcription	Pancreas	Pancrea
2	chr15:43030000-43066200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr15:43030000-43067200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:43030000-43093600	Weak transcription	Colonic Mucosa	Colon
5	chr15:43038200-43055200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:43038400-43067400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:43044600-43056000	Weak transcription	Fetal Lung	lung
8	chr15:43044800-43066400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:43045000-43065600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:43045400-43062800	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:43045400-43068000	Weak transcription	Fetal Heart	heart
12	chr15:43045600-43074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:43045800-43064800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:43046000-43062600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:43051800-43064000	Weak transcription	Left Ventricle	heart
16	chr15:43051800-43064400	Weak transcription	Fetal Stomach	stomach
17	chr15:43051800-43065200	Weak transcription	Placenta	Placenta
18	chr15:43051800-43066200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:43051800-43069400	Weak transcription	Gastric	stomach
20	chr15:43051800-43070600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:43051800-43074600	Weak transcription	Right Ventricle	heart
22	chr15:43051800-43075000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:43051800-43083800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:43052000-43055800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:43052000-43063800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:43052000-43065800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:43052000-43065800	Weak transcription	Thymus	Thymus
28	chr15:43052000-43066000	Weak transcription	Spleen	Spleen
29	chr15:43052000-43066600	Weak transcription	Ovary	ovary
30	chr15:43052000-43074600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:43052800-43057600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:43053200-43055200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:43053600-43112200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr15:43053800-43055200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr15:43053800-43066400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:43054000-43064400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr15:43054000-43066000	Weak transcription	Brain Angular Gyrus	brain
38	chr15:43054000-43066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:43054000-43066400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:43054000-43074600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:43054000-43080200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr15:43054400-43055200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:43054400-43064000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:43054600-43055800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr15:43054600-43055800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr15:43054600-43064200	Weak transcription	Liver	Liver
47	chr15:43054600-43067200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:43054600-43068600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr15:43054800-43056400	Weak transcription	Brain Germinal Matrix	brain
50	chr15:43054800-43058200	Weak transcription	Primary B cells from peripheral blood	blood

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