Variant report

Variant	rs993000
Chromosome Location	chr3:59745585-59745586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12152416	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13313901	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1349021	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1550925	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1629023	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs1666064	0.96[EUR][1000 genomes]
rs1683347	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1683349	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17061173	0.87[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4679606	0.81[ASN][1000 genomes]
rs4679607	0.84[CHB][hapmap]
rs477697	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs481165	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73092688	0.82[EUR][1000 genomes]
rs73092690	0.83[EUR][1000 genomes]
rs73092698	0.84[EUR][1000 genomes]
rs73092702	0.83[EUR][1000 genomes]
rs73094508	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73094588	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73094593	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9826481	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9847591	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9865682	0.82[EUR][1000 genomes];0.82[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	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59738200-59747000	Enhancers	Primary T cells from cord blood	blood
2	chr3:59738400-59749000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr3:59738400-59749200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr3:59738800-59754400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:59739000-59747200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:59740000-59749000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:59740200-59746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:59741400-59746600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:59741600-59757800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:59743200-59747000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:59743400-59748400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:59743400-59750200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:59744000-59745600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:59744400-59746200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:59744400-59746800	Enhancers	Fetal Thymus	thymus
16	chr3:59744600-59745600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:59744600-59746200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr3:59744600-59746400	Enhancers	Stomach Mucosa	stomach
19	chr3:59744800-59745600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:59744800-59745600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr3:59744800-59745600	Enhancers	Fetal Lung	lung
22	chr3:59744800-59745600	Enhancers	Right Atrium	heart
23	chr3:59744800-59745600	Enhancers	HMEC	breast
24	chr3:59744800-59745800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:59744800-59746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:59745000-59745600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:59745000-59745600	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:59745000-59745600	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr3:59745000-59745600	Enhancers	Small Intestine	intestine
30	chr3:59745000-59746200	Enhancers	Fetal Intestine Small	intestine
31	chr3:59745000-59746200	Weak transcription	Thymus	Thymus
32	chr3:59745000-59746200	Enhancers	HepG2	liver
33	chr3:59745000-59748800	Weak transcription	NHDF-Ad	bronchial
34	chr3:59745200-59745600	Enhancers	Fetal Muscle Leg	muscle
35	chr3:59745200-59745600	Enhancers	Pancreas	Pancrea
36	chr3:59745200-59745800	Enhancers	Liver	Liver
37	chr3:59745200-59746800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr3:59745200-59757000	Weak transcription	Dnd41	blood
39	chr3:59745400-59745600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:59745400-59751200	Weak transcription	Osteobl	bone

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