Variant report

Variant	rs28446374
Chromosome Location	chr4:86487822-86487823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003508	1.00[AMR][1000 genomes]
rs10003616	1.00[AMR][1000 genomes]
rs10006491	1.00[AMR][1000 genomes]
rs10009042	1.00[AMR][1000 genomes]
rs10009686	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10015628	1.00[AMR][1000 genomes]
rs10016029	1.00[AMR][1000 genomes]
rs10016153	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020940	1.00[AMR][1000 genomes]
rs10023579	1.00[AMR][1000 genomes]
rs10030914	1.00[AMR][1000 genomes]
rs10031920	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10033604	1.00[AMR][1000 genomes]
rs13434500	1.00[AMR][1000 genomes]
rs13435619	1.00[AMR][1000 genomes]
rs28380594	1.00[AMR][1000 genomes]
rs28385277	1.00[AMR][1000 genomes]
rs28385531	1.00[AMR][1000 genomes]
rs28404254	1.00[AMR][1000 genomes]
rs28416247	1.00[AMR][1000 genomes]
rs28417307	1.00[AMR][1000 genomes]
rs28463959	1.00[AMR][1000 genomes]
rs28483739	1.00[AMR][1000 genomes]
rs28493605	1.00[AMR][1000 genomes]
rs28542843	1.00[AMR][1000 genomes]
rs28556771	1.00[AMR][1000 genomes]
rs28568576	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28585433	1.00[AMR][1000 genomes]
rs28607329	1.00[AMR][1000 genomes]
rs28618270	1.00[AMR][1000 genomes]
rs28645081	1.00[AMR][1000 genomes]
rs28652904	1.00[AMR][1000 genomes]
rs28663637	1.00[AMR][1000 genomes]
rs28671522	1.00[AMR][1000 genomes]
rs28708671	1.00[AMR][1000 genomes]
rs28733613	1.00[AMR][1000 genomes]
rs9996146	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86475600-86488000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:86476800-86491800	Weak transcription	NHDF-Ad	bronchial
3	chr4:86477000-86493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:86477600-86494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:86478000-86501000	Weak transcription	Right Ventricle	heart
6	chr4:86479000-86493800	Weak transcription	Spleen	Spleen
7	chr4:86479400-86488600	Weak transcription	Psoas Muscle	Psoas
8	chr4:86482200-86491600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr4:86484800-86489800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr4:86484800-86491600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:86485200-86491600	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:86486000-86509200	Weak transcription	Left Ventricle	heart
13	chr4:86486400-86488600	Enhancers	HSMM	muscle
14	chr4:86486600-86488000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:86487000-86488000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:86487000-86488000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:86487000-86509200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:86487200-86488200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:86487200-86491800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:86487200-86521200	Weak transcription	HSMMtube	muscle
21	chr4:86487400-86488200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:86487600-86488200	Enhancers	GM12878-XiMat	blood
23	chr4:86487600-86488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:86487600-86491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:86487800-86488000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:86487800-86488200	Enhancers	HUES6 Cell Line	embryonic stem cell

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