Variant report

Variant	rs59716710
Chromosome Location	chr4:88345262-88345263
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88310667..88314164-chr4:88342247..88345345,4	K562	blood:
2	chr4:88344098..88346850-chr4:88347399..88349099,3	MCF-7	breast:
3	chr4:88340563..88342774-chr4:88344260..88346848,4	MCF-7	breast:
4	chr4:88309813..88313902-chr4:88342245..88346379,5	K562	blood:

Variant related genes	Relation type
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11936366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11936545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56102037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56401941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60052062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6818444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839721	0.96[AFR][1000 genomes]
rs73839773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88342400-88345400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:88342400-88345400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:88342600-88345400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr4:88342600-88345400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr4:88342600-88346000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:88343000-88345400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr4:88343000-88345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:88343000-88345400	Active TSS	Ovary	ovary
9	chr4:88343000-88345800	Active TSS	HSMM	muscle
10	chr4:88343200-88345400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:88343200-88345400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr4:88343200-88345800	Active TSS	Fetal Kidney	kidney
13	chr4:88343200-88345800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:88343400-88345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr4:88343400-88345600	Active TSS	Pancreas	Pancrea
16	chr4:88343400-88346000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr4:88343600-88345400	Active TSS	Fetal Intestine Small	intestine
18	chr4:88343600-88345400	Active TSS	Placenta	Placenta
19	chr4:88343600-88345600	Active TSS	Hela-S3	cervix
20	chr4:88344200-88345400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:88344400-88345400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr4:88344400-88345400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:88344400-88345400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:88344400-88346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:88344400-88346200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:88344400-88346200	Weak transcription	Esophagus	oesophagus
27	chr4:88344400-88346200	Weak transcription	Spleen	Spleen
28	chr4:88344400-88398600	Weak transcription	Gastric	stomach
29	chr4:88344600-88345400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:88344600-88345400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:88344600-88345400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr4:88344600-88345400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:88344600-88345400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr4:88344600-88345400	Flanking Active TSS	Liver	Liver
35	chr4:88344600-88345400	Flanking Active TSS	Dnd41	blood
36	chr4:88344600-88345400	Flanking Active TSS	Osteobl	bone
37	chr4:88344600-88346400	Enhancers	Primary B cells from peripheral blood	blood
38	chr4:88344600-88356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:88344600-88356200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:88344800-88345400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:88344800-88345400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr4:88344800-88345400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr4:88344800-88345400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr4:88344800-88345400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:88344800-88345400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:88344800-88345400	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr4:88344800-88345400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:88344800-88345400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr4:88344800-88345400	Flanking Active TSS	Fetal Lung	lung
50	chr4:88344800-88345400	Flanking Active TSS	Fetal Muscle Leg	muscle

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