Variant report

Variant	rs62374708
Chromosome Location	chr5:112437438-112437439
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112430778..112433837-chr5:112436274..112439301,3	K562	blood:
2	chr5:112430778..112433487-chr5:112436303..112439301,2	K562	blood:
3	chr5:112428762..112430474-chr5:112437369..112439619,2	K562	blood:
4	chr5:112404865..112407461-chr5:112436712..112439575,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11952087	1.00[EUR][1000 genomes]
rs35555142	0.83[EUR][1000 genomes]
rs4235792	1.00[EUR][1000 genomes]
rs4259163	1.00[EUR][1000 genomes]
rs4454046	1.00[EUR][1000 genomes]
rs4458560	1.00[EUR][1000 genomes]
rs4527591	1.00[EUR][1000 genomes]
rs4582268	1.00[EUR][1000 genomes]
rs4705541	1.00[EUR][1000 genomes]
rs4705781	1.00[EUR][1000 genomes]
rs60681208	0.83[EUR][1000 genomes]
rs62373350	0.83[EUR][1000 genomes]
rs62373352	0.83[EUR][1000 genomes]
rs62374676	0.83[EUR][1000 genomes]
rs62374682	0.83[EUR][1000 genomes]
rs62374707	0.83[EUR][1000 genomes]
rs62374709	1.00[EUR][1000 genomes]
rs62374711	1.00[EUR][1000 genomes]
rs6594684	1.00[EUR][1000 genomes]
rs6594689	1.00[EUR][1000 genomes]
rs6872711	1.00[EUR][1000 genomes]
rs73237129	1.00[EUR][1000 genomes]
rs7703001	1.00[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	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1018344	chr5:112390951-112458853	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112384000-112453000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:112391600-112439000	Weak transcription	Gastric	stomach
3	chr5:112399800-112441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:112411200-112443400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:112418400-112441600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:112418600-112441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112421000-112439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:112424400-112448000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:112426000-112441600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:112426200-112445000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:112426600-112453000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:112426800-112450200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:112426800-112450600	Weak transcription	Primary T cells from cord blood	blood
14	chr5:112426800-112450600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:112426800-112453800	Weak transcription	HSMMtube	muscle
16	chr5:112427000-112440800	Weak transcription	NH-A	brain
17	chr5:112427000-112453800	Weak transcription	Fetal Kidney	kidney
18	chr5:112427200-112448200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:112427600-112441600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:112427600-112442000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:112427600-112443200	Weak transcription	Brain Substantia Nigra	brain
22	chr5:112428000-112440200	Strong transcription	Liver	Liver
23	chr5:112428400-112440200	Strong transcription	Fetal Stomach	stomach
24	chr5:112428600-112445000	Weak transcription	Placenta	Placenta
25	chr5:112430400-112441000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:112431000-112439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:112431000-112440000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:112431000-112442600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:112431200-112461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:112431600-112440200	Strong transcription	Ovary	ovary
31	chr5:112432200-112443200	Weak transcription	Lung	lung
32	chr5:112432200-112450200	Weak transcription	Spleen	Spleen
33	chr5:112432200-112454600	Weak transcription	Pancreas	Pancrea
34	chr5:112432400-112437800	Weak transcription	Fetal Heart	heart
35	chr5:112432800-112439000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:112433600-112439600	Strong transcription	Esophagus	oesophagus
37	chr5:112433600-112439800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:112433600-112441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:112433800-112443800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:112434000-112439000	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:112434000-112439200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:112434000-112459200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:112435200-112438200	Strong transcription	Adipose Nuclei	Adipose
44	chr5:112435400-112438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:112435400-112439800	Strong transcription	Fetal Lung	lung
46	chr5:112435600-112437800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:112435800-112439800	Weak transcription	Right Ventricle	heart
48	chr5:112436000-112442400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:112436200-112438000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:112436400-112440600	Strong transcription	Stomach Smooth Muscle	stomach

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