Variant report

Variant	rs72870699
Chromosome Location	chr4:87590250-87590251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72872219	1.00[AFR][1000 genomes]
rs72872228	1.00[AFR][1000 genomes]
rs72876004	1.00[AFR][1000 genomes]
rs72876032	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv822635	chr4:87479576-87622176	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv879523	chr4:87517609-87594472	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv879524	chr4:87517609-87603929	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv2755470	chr4:87536515-87613212	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87571600-87596000	Weak transcription	Pancreas	Pancrea
2	chr4:87574600-87594000	Weak transcription	Fetal Kidney	kidney
3	chr4:87574600-87604400	Weak transcription	Brain Substantia Nigra	brain
4	chr4:87574600-87644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:87576200-87593400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:87579200-87642600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:87579400-87591000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:87579400-87593400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:87579400-87594000	Weak transcription	Fetal Stomach	stomach
10	chr4:87579400-87604000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:87579400-87644400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:87579600-87593000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:87579600-87594000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:87579600-87611800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:87582400-87591600	Weak transcription	NHDF-Ad	bronchial
16	chr4:87582400-87603400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:87584800-87590800	Weak transcription	Ovary	ovary
18	chr4:87584800-87593400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:87585200-87590800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:87585200-87618000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:87585400-87593200	Weak transcription	Fetal Lung	lung
22	chr4:87586400-87590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:87586400-87591400	Weak transcription	HMEC	breast
24	chr4:87586400-87593200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:87586400-87643200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:87586600-87590800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:87586600-87590800	Weak transcription	NHEK	skin
28	chr4:87586600-87593200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:87586600-87593800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:87586800-87591400	Weak transcription	Osteobl	bone
31	chr4:87586800-87591600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:87587000-87591600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:87587000-87591600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:87587200-87594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:87588000-87592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:87588200-87590800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:87588200-87594000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:87588200-87594000	Weak transcription	Esophagus	oesophagus
39	chr4:87589200-87599600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:87589400-87592800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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