Variant report

Variant	rs60803166
Chromosome Location	chr3:17670807-17670808
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17668314..17670997-chr3:17674062..17676778,5	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs11916424	1.00[EUR][1000 genomes]
rs11916984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922861	1.00[EUR][1000 genomes]
rs11924147	1.00[EUR][1000 genomes]
rs11924560	1.00[EUR][1000 genomes]
rs11925226	1.00[EUR][1000 genomes]
rs11925353	1.00[EUR][1000 genomes]
rs11926072	1.00[EUR][1000 genomes]
rs11926087	1.00[EUR][1000 genomes]
rs11926251	1.00[EUR][1000 genomes]
rs11927232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927283	1.00[EUR][1000 genomes]
rs11927769	1.00[EUR][1000 genomes]
rs11927967	1.00[EUR][1000 genomes]
rs11929046	1.00[EUR][1000 genomes]
rs11929521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107061	1.00[EUR][1000 genomes]
rs28525383	1.00[EUR][1000 genomes]
rs57352109	1.00[EUR][1000 genomes]
rs58152540	1.00[EUR][1000 genomes]
rs58392667	1.00[EUR][1000 genomes]
rs58777809	1.00[EUR][1000 genomes]
rs58848058	1.00[EUR][1000 genomes]
rs58921548	1.00[EUR][1000 genomes]
rs59891221	1.00[EUR][1000 genomes]
rs59960076	1.00[EUR][1000 genomes]
rs60245392	1.00[EUR][1000 genomes]
rs60459720	1.00[EUR][1000 genomes]
rs60662240	1.00[EUR][1000 genomes]
rs60838916	1.00[EUR][1000 genomes]
rs61650046	1.00[EUR][1000 genomes]
rs61698855	1.00[EUR][1000 genomes]
rs6577595	1.00[EUR][1000 genomes]
rs6577629	1.00[EUR][1000 genomes]
rs6763348	1.00[EUR][1000 genomes]
rs6789382	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6796915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73160959	1.00[EUR][1000 genomes]
rs73160964	1.00[EUR][1000 genomes]
rs73161427	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73161452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164768	1.00[EUR][1000 genomes]
rs73164787	1.00[EUR][1000 genomes]
rs73164796	1.00[EUR][1000 genomes]
rs73165722	1.00[EUR][1000 genomes]
rs73165736	1.00[EUR][1000 genomes]
rs73165740	1.00[EUR][1000 genomes]
rs73165743	1.00[EUR][1000 genomes]
rs73165752	1.00[EUR][1000 genomes]
rs73165771	1.00[EUR][1000 genomes]
rs73165774	1.00[EUR][1000 genomes]
rs73165775	1.00[EUR][1000 genomes]
rs73165777	1.00[EUR][1000 genomes]
rs73165779	1.00[EUR][1000 genomes]
rs73165798	1.00[EUR][1000 genomes]
rs73166516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73166544	1.00[EUR][1000 genomes]
rs73167510	1.00[EUR][1000 genomes]
rs73167513	1.00[EUR][1000 genomes]
rs73167514	1.00[EUR][1000 genomes]
rs73167523	1.00[EUR][1000 genomes]
rs73167527	1.00[EUR][1000 genomes]
rs73168748	1.00[EUR][1000 genomes]
rs73168752	1.00[EUR][1000 genomes]
rs73170844	1.00[EUR][1000 genomes]
rs73170845	1.00[EUR][1000 genomes]
rs73170855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170858	1.00[EUR][1000 genomes]
rs73170877	1.00[EUR][1000 genomes]
rs73170878	1.00[EUR][1000 genomes]
rs73172909	1.00[EUR][1000 genomes]
rs73172914	1.00[EUR][1000 genomes]
rs73172924	1.00[EUR][1000 genomes]
rs7620585	1.00[EUR][1000 genomes]
rs7621577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630381	1.00[EUR][1000 genomes]
rs7631803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648122	1.00[EUR][1000 genomes]
rs9680896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9683129	1.00[AMR][1000 genomes]
rs9754654	1.00[EUR][1000 genomes]
rs9754657	1.00[EUR][1000 genomes]
rs9941993	1.00[EUR][1000 genomes]
rs9968236	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1013069	chr3:17560456-17783372	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1849856	chr3:17646794-17748688	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1828838	chr3:17646794-17757960	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17633800-17676600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:17639200-17676800	Weak transcription	Ovary	ovary
3	chr3:17647400-17673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:17647800-17673000	Weak transcription	Psoas Muscle	Psoas
5	chr3:17650800-17681200	Weak transcription	Aorta	Aorta
6	chr3:17651400-17673200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:17656000-17681200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:17657600-17673200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:17657800-17681200	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:17658800-17677200	Weak transcription	Small Intestine	intestine
11	chr3:17659400-17676800	Weak transcription	Right Atrium	heart
12	chr3:17659800-17672800	Weak transcription	Fetal Heart	heart
13	chr3:17660400-17671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:17660400-17671200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:17660400-17673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:17660400-17673200	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:17660400-17674600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:17660400-17679800	Weak transcription	Adipose Nuclei	Adipose
19	chr3:17660600-17674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:17662000-17671600	Weak transcription	Fetal Intestine Small	intestine
21	chr3:17664000-17671400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:17664000-17671400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:17664000-17674600	Weak transcription	Left Ventricle	heart
24	chr3:17664000-17679000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:17664800-17671400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:17664800-17688600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:17664800-17689000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:17665200-17671400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:17665200-17672400	Weak transcription	Dnd41	blood
30	chr3:17666600-17673200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:17668600-17674000	Weak transcription	Brain Substantia Nigra	brain
32	chr3:17668600-17679400	Weak transcription	GM12878-XiMat	blood
33	chr3:17668600-17679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:17668800-17672600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:17668800-17673200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:17668800-17673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:17668800-17673800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:17668800-17674000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:17668800-17706200	Weak transcription	Primary B cells from cord blood	blood
40	chr3:17669000-17671400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:17669000-17673600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:17669800-17671000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:17670000-17671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:17670000-17672800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:17670400-17671400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:17670400-17673800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr3:17670600-17672200	Enhancers	A549	lung
48	chr3:17670800-17671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:17670800-17671400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:17670800-17671600	Enhancers	Muscle Satellite Cultured Cells	--

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