Variant report

Variant	rs60218083
Chromosome Location	chr4:55158938-55158939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10003055	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10004857	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10010509	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10020847	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10021728	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10028020	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10032688	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11133317	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11733839	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11931555	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11935157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940889	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13147194	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1547905	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228230	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276948	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412556	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412557	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412558	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28374326	0.89[AMR][1000 genomes]
rs28811736	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3690	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733540	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4289498	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864872	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55732997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55784333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677708	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9993187	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1004408	chr4:55124471-55179212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv537099	chr4:55124471-55179212	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv1001094	chr4:55131860-55189739	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55137400-55161600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:55143600-55164600	Weak transcription	Colonic Mucosa	Colon
3	chr4:55145600-55163200	Weak transcription	Gastric	stomach
4	chr4:55148200-55166000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:55148200-55167200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:55148400-55163800	Strong transcription	Ovary	ovary
7	chr4:55148600-55162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:55148600-55163800	Strong transcription	NHLF	lung
9	chr4:55148600-55166400	Strong transcription	Osteobl	bone
10	chr4:55148800-55161400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:55148800-55162600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:55149400-55162600	Weak transcription	Psoas Muscle	Psoas
13	chr4:55149400-55166400	Strong transcription	NHDF-Ad	bronchial
14	chr4:55149600-55162800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:55149800-55160800	Weak transcription	Pancreas	Pancrea
16	chr4:55149800-55164000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:55150000-55166000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:55150200-55160800	Strong transcription	Fetal Stomach	stomach
19	chr4:55150200-55163600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:55150200-55164000	Strong transcription	Fetal Lung	lung
21	chr4:55150200-55165200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:55150200-55166200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:55150400-55159200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:55150400-55162400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:55150400-55165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:55150400-55165600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:55151200-55161800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr4:55151200-55164400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:55151600-55161600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:55151800-55159400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:55152000-55165000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:55152200-55162400	Weak transcription	Liver	Liver
33	chr4:55152200-55162600	Weak transcription	Right Atrium	heart
34	chr4:55153000-55159600	Strong transcription	Fetal Kidney	kidney
35	chr4:55153200-55166800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:55155400-55160600	Weak transcription	Fetal Intestine Small	intestine
37	chr4:55155400-55163400	Weak transcription	Fetal Intestine Large	intestine
38	chr4:55156600-55168400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:55156800-55162600	Weak transcription	Left Ventricle	heart
40	chr4:55156800-55162600	Weak transcription	Right Ventricle	heart
41	chr4:55156800-55163000	Weak transcription	Spleen	Spleen
42	chr4:55157000-55160000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:55157000-55164200	Weak transcription	Esophagus	oesophagus
44	chr4:55157000-55165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:55157200-55166000	Weak transcription	NH-A	brain
46	chr4:55157400-55160600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:55157400-55163000	Weak transcription	Adipose Nuclei	Adipose
48	chr4:55157400-55166000	Weak transcription	Placenta	Placenta
49	chr4:55158200-55160600	Strong transcription	Aorta	Aorta
50	chr4:55158400-55160000	Weak transcription	Colon Smooth Muscle	Colon

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