Variant report

Variant	rs2629406
Chromosome Location	chr3:119347028-119347029
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119265125..119267383-chr3:119346773..119348638,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1032131	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1032132	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12631518	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12638684	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12639410	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13062086	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13318540	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1471792	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1471793	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1877594	0.84[ASN][1000 genomes]
rs1877595	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1967051	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1967052	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2247660	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2280669	0.85[EUR][1000 genomes]
rs2670288	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2670295	0.81[CEU][hapmap]
rs3755583	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3772132	0.92[CEU][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688020	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs483349	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs657079	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6799965	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6800119	0.83[EUR][1000 genomes]
rs9832300	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9834422	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1795621	chr3:119344693-119353995	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119322200-119349200	Weak transcription	Gastric	stomach
2	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:119341400-119364600	Weak transcription	Liver	Liver
4	chr3:119343200-119349200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:119343800-119349200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:119343800-119351400	Enhancers	Psoas Muscle	Psoas
7	chr3:119344000-119347600	Enhancers	Lung	lung
8	chr3:119344200-119349600	Enhancers	Spleen	Spleen
9	chr3:119344400-119348400	Enhancers	Left Ventricle	heart
10	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
11	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:119344800-119350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:119345000-119348200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:119345000-119349800	Enhancers	Right Ventricle	heart
15	chr3:119345000-119350000	Enhancers	Adipose Nuclei	Adipose
16	chr3:119345200-119347800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr3:119345200-119348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:119345200-119349400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:119345200-119350800	Weak transcription	Fetal Heart	heart
20	chr3:119345200-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:119345400-119347800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:119345400-119347800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:119345400-119348000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:119345400-119348400	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:119345400-119348400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:119345400-119349000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:119345600-119347200	Enhancers	Primary hematopoietic stem cells	blood
28	chr3:119345600-119347200	Enhancers	HUVEC	blood vessel
29	chr3:119345600-119347800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr3:119345800-119347400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:119345800-119347600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr3:119345800-119348200	Enhancers	Primary B cells from cord blood	blood
33	chr3:119345800-119349200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:119345800-119355200	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:119346000-119347400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr3:119346000-119351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:119346200-119349800	Enhancers	Right Atrium	heart
38	chr3:119346200-119351000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:119346400-119347600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr3:119346400-119348200	Enhancers	Ovary	ovary
41	chr3:119346400-119348200	Flanking Active TSS	GM12878-XiMat	blood
42	chr3:119346400-119350800	Enhancers	Placenta	Placenta
43	chr3:119346400-119351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:119346600-119349200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:119346600-119349400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr3:119346600-119350400	Enhancers	HSMMtube	muscle
47	chr3:119346800-119347200	Enhancers	Brain Anterior Caudate	brain
48	chr3:119346800-119347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:119346800-119348400	Enhancers	Aorta	Aorta
50	chr3:119346800-119350600	Enhancers	Osteobl	bone

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