Variant report

Variant	rs28811736
Chromosome Location	chr4:55148547-55148548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10003055	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10004857	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10010509	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10020847	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10021728	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10028020	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10032688	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1105825	0.81[AMR][1000 genomes]
rs11133317	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11733839	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11931555	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935157	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11940889	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13147194	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1547905	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228230	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276948	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2307050	0.81[AMR][1000 genomes]
rs2412556	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412557	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412558	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28374326	0.94[AMR][1000 genomes]
rs28698464	0.81[AMR][1000 genomes]
rs35597368	0.81[AMR][1000 genomes]
rs3690	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3733540	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4289498	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864872	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864875	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864876	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55732997	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55784333	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60218083	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67388297	0.81[AMR][1000 genomes]
rs6855761	0.81[AMR][1000 genomes]
rs7677708	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993187	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55121000-55153200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:55136600-55148600	Strong transcription	Fetal Lung	lung
3	chr4:55137400-55161600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:55139000-55153000	Weak transcription	Fetal Kidney	kidney
5	chr4:55139800-55148600	Genic enhancers	Osteobl	bone
6	chr4:55140200-55149200	Weak transcription	Fetal Intestine Small	intestine
7	chr4:55140400-55149400	Genic enhancers	NHDF-Ad	bronchial
8	chr4:55140800-55148600	Genic enhancers	NHLF	lung
9	chr4:55141200-55149000	Weak transcription	Placenta	Placenta
10	chr4:55143600-55148800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:55143600-55164600	Weak transcription	Colonic Mucosa	Colon
12	chr4:55143800-55149000	Weak transcription	Fetal Intestine Large	intestine
13	chr4:55143800-55149200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:55143800-55150400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:55145000-55150800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr4:55145400-55148600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:55145600-55163200	Weak transcription	Gastric	stomach
18	chr4:55146000-55148600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:55146200-55148600	Enhancers	Aorta	Aorta
20	chr4:55146200-55148800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:55146600-55149600	Enhancers	Stomach Mucosa	stomach
22	chr4:55147000-55150400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr4:55147200-55148600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:55147200-55148600	Enhancers	Colon Smooth Muscle	Colon
25	chr4:55147200-55148800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:55147200-55149000	Enhancers	HSMM	muscle
27	chr4:55147200-55149400	Enhancers	Psoas Muscle	Psoas
28	chr4:55147200-55149600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr4:55147400-55149600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr4:55147400-55149600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:55147600-55149600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:55147600-55150200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:55147600-55156000	Weak transcription	Right Ventricle	heart
34	chr4:55148000-55148600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr4:55148000-55148600	Enhancers	HUVEC	blood vessel
36	chr4:55148000-55148800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:55148000-55149600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:55148000-55150000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr4:55148200-55148600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr4:55148200-55148600	Enhancers	HSMMtube	muscle
41	chr4:55148200-55148800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:55148200-55148800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr4:55148200-55149000	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:55148200-55149800	Enhancers	Pancreas	Pancrea
45	chr4:55148200-55150200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
46	chr4:55148200-55166000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:55148200-55167200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:55148400-55148600	Enhancers	Spleen	Spleen
49	chr4:55148400-55149000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:55148400-55149000	Strong transcription	Fetal Stomach	stomach

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