Variant report

Variant	rs12648665
Chromosome Location	chr4:88328792-88328793
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10000196	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10009948	0.95[EUR][1000 genomes]
rs10030035	0.82[AMR][1000 genomes]
rs10032122	0.95[EUR][1000 genomes]
rs12640451	0.95[EUR][1000 genomes]
rs12640894	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28366407	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28437709	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28493315	0.82[AMR][1000 genomes]
rs28493566	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28529046	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28535549	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28718986	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28762371	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28805573	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34027531	0.85[EUR][1000 genomes]
rs4411944	0.85[EUR][1000 genomes]
rs55824708	0.95[EUR][1000 genomes]
rs58192677	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68045074	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72652067	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7673763	0.82[AMR][1000 genomes]
rs7680878	0.82[AMR][1000 genomes]
rs9995987	0.92[AMR][1000 genomes];0.96[EUR][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	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
3	esv3447453	chr4:88323528-88329828	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88320600-88329400	Weak transcription	Pancreas	Pancrea
2	chr4:88326000-88330600	Weak transcription	K562	blood
3	chr4:88326800-88329600	Enhancers	Duodenum Mucosa	Duodenum
4	chr4:88327200-88329400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:88327200-88332400	Enhancers	Fetal Intestine Small	intestine
6	chr4:88327400-88329000	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:88327600-88328800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:88327600-88329200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr4:88327600-88332400	Enhancers	Fetal Intestine Large	intestine
10	chr4:88327800-88329000	Enhancers	Fetal Lung	lung
11	chr4:88327800-88330200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:88328000-88328800	Enhancers	Primary B cells from cord blood	blood
13	chr4:88328000-88328800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:88328000-88329000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:88328000-88329000	Enhancers	Primary T cells from cord blood	blood
16	chr4:88328000-88330000	Weak transcription	Stomach Mucosa	stomach
17	chr4:88328000-88331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:88328200-88329000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:88328200-88329000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:88328200-88329400	Weak transcription	Liver	Liver
21	chr4:88328200-88330000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:88328400-88329400	Enhancers	Primary hematopoietic stem cells	blood

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