Variant report

Variant	rs1997002
Chromosome Location	chr3:81873004-81873005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1155277	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs11925940	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12495343	0.89[EUR][1000 genomes]
rs12635671	0.89[EUR][1000 genomes]
rs1375086	0.96[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs1404297	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1829967	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1851917	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1973800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973803	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1973804	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2244294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252530	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2594547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2594549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs2594551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2594553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs2594558	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2594562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2680245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2680246	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2680257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs2680260	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2680274	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2680277	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2680280	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691077	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691078	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691079	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691080	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691083	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2691084	0.82[EUR][1000 genomes]
rs2691085	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2691089	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2691093	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs3772899	0.96[CEU][hapmap]
rs3772902	0.96[CEU][hapmap]
rs4273393	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4479621	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6774438	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6803932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7611902	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7653333	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs950904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs957670	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9818090	0.96[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs9822266	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9832088	0.82[EUR][1000 genomes]
rs9860204	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9860805	0.96[CEU][hapmap];0.88[JPT][hapmap]

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	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81870000-81873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:81871000-81873800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:81871000-81874400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:81871800-81873400	Enhancers	Liver	Liver
5	chr3:81872200-81873200	Enhancers	Brain Hippocampus Middle	brain
6	chr3:81872200-81873200	Weak transcription	Dnd41	blood
7	chr3:81872200-81873800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:81872400-81873200	Weak transcription	Pancreas	Pancrea
9	chr3:81872400-81873600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:81872400-81874000	Enhancers	Fetal Heart	heart
11	chr3:81872400-81874400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:81872600-81873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:81872600-81873600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:81872600-81873800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:81872800-81873200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:81872800-81873200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:81872800-81873200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:81872800-81873400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:81872800-81873400	Enhancers	Brain Germinal Matrix	brain
20	chr3:81872800-81873600	Enhancers	Fetal Lung	lung
21	chr3:81872800-81873600	Enhancers	NHDF-Ad	bronchial
22	chr3:81872800-81873800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:81872800-81873800	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:81872800-81874200	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:81873000-81873200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:81873000-81873200	Enhancers	Brain Anterior Caudate	brain
27	chr3:81873000-81873200	Enhancers	Brain Substantia Nigra	brain
28	chr3:81873000-81873400	Enhancers	Primary B cells from cord blood	blood
29	chr3:81873000-81873400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr3:81873000-81873400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:81873000-81873400	Enhancers	Fetal Kidney	kidney
32	chr3:81873000-81873600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:81873000-81874000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:81873000-81874400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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