Variant report

Variant	rs28711225
Chromosome Location	chr4:186770300-186770301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10000195	0.87[AFR][1000 genomes]
rs10004099	1.00[AFR][1000 genomes]
rs10007894	1.00[AFR][1000 genomes]
rs10023215	1.00[AFR][1000 genomes]
rs28369145	1.00[AFR][1000 genomes]
rs28428970	1.00[AFR][1000 genomes]
rs28458856	0.86[AFR][1000 genomes]
rs28502159	1.00[AFR][1000 genomes]
rs28538607	1.00[AFR][1000 genomes]
rs28550709	0.86[AFR][1000 genomes]
rs9990488	1.00[AFR][1000 genomes]
rs9995912	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh 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	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
7	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186761200-186778400	Weak transcription	Aorta	Aorta
2	chr4:186768600-186772200	Enhancers	Fetal Brain Male	brain
3	chr4:186769000-186770800	Weak transcription	Fetal Lung	lung
4	chr4:186769000-186770800	Weak transcription	Fetal Stomach	stomach
5	chr4:186769000-186771800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:186769000-186780400	Weak transcription	Pancreas	Pancrea
7	chr4:186769200-186770600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:186769200-186770800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:186769200-186771200	Enhancers	Fetal Heart	heart
10	chr4:186769200-186771600	Enhancers	HSMM	muscle
11	chr4:186769200-186779000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:186769400-186770400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:186769400-186771000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:186769400-186771000	Weak transcription	NHDF-Ad	bronchial
15	chr4:186769400-186771000	Weak transcription	NHEK	skin
16	chr4:186769400-186771200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:186769400-186771400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:186769400-186772200	Enhancers	HSMMtube	muscle
19	chr4:186769400-186772800	Weak transcription	Right Ventricle	heart
20	chr4:186770000-186771200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:186770000-186771200	Weak transcription	Left Ventricle	heart
22	chr4:186770000-186771600	Enhancers	Right Atrium	heart
23	chr4:186770200-186770400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr4:186770200-186770400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:186770200-186770400	Enhancers	Placenta	Placenta
26	chr4:186770200-186770400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:186770200-186771800	Enhancers	Adipose Nuclei	Adipose

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