Variant report

Variant	rs60479909
Chromosome Location	chr4:143293634-143293635
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10519644	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11930321	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11944462	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11944503	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12499785	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12500699	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12502921	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12505845	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2130251	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2130252	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2171756	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28555074	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28588752	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3775704	0.84[ASN][1000 genomes]
rs4435818	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4476678	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4551010	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4566727	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59780536	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60684776	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61515079	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs66459818	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66511868	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs66537547	0.99[ASN][1000 genomes]
rs66941440	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67001118	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67013221	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67111439	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67440355	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs67710427	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67760986	0.96[ASN][1000 genomes]
rs67947007	0.96[ASN][1000 genomes]
rs67981369	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs68057722	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6820234	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6829034	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6839769	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6851331	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6854342	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72724524	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72724531	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72724534	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72941192	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72944948	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs931421	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
3	chr4:143285000-143294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:143286800-143293800	Weak transcription	Osteobl	bone
6	chr4:143287000-143293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:143288400-143293800	Weak transcription	Aorta	Aorta
8	chr4:143288800-143296200	Weak transcription	A549	lung
9	chr4:143289000-143293800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:143289000-143293800	Weak transcription	Small Intestine	intestine
11	chr4:143289000-143295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:143289200-143300000	Weak transcription	NH-A	brain
14	chr4:143290000-143294000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:143290200-143296400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:143290200-143298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:143290400-143293800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:143290400-143293800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:143290400-143293800	Weak transcription	HSMM	muscle
20	chr4:143290400-143293800	Weak transcription	NHDF-Ad	bronchial
21	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr4:143290600-143293800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr4:143290600-143293800	Weak transcription	HMEC	breast
25	chr4:143290600-143296400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:143290600-143296600	Weak transcription	Primary T cells from cord blood	blood
27	chr4:143290600-143296600	Weak transcription	Dnd41	blood
28	chr4:143290800-143300000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:143291000-143295600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:143291200-143299000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:143292200-143296200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:143292400-143294200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr4:143293200-143293800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:143293200-143293800	Weak transcription	NHEK	skin
35	chr4:143293200-143294200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:143293400-143294000	Enhancers	Fetal Brain Female	brain
37	chr4:143293400-143294800	Enhancers	Fetal Heart	heart
38	chr4:143293400-143295400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr4:143293400-143295400	Enhancers	HSMMtube	muscle
40	chr4:143293400-143297000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:143293400-143302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr4:143293600-143293800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:143293600-143294000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:143293600-143294200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:143293600-143295400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:143293600-143296600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:143293600-143297000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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