Variant report

Variant	rs4870918
Chromosome Location	chr8:125679980-125679981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125621765..125624512-chr8:125677163..125680023,2	MCF-7	breast:
2	chr8:125675068..125677488-chr8:125678936..125680854,2	K562	blood:
3	chr8:125672360..125675088-chr8:125677995..125680421,2	K562	blood:
4	chr8:125678428..125680821-chr8:125682568..125684365,2	K562	blood:
5	chr8:125663277..125665200-chr8:125679495..125682417,2	K562	blood:
6	chr8:125676205..125678363-chr8:125679206..125681734,2	MCF-7	breast:
7	chr8:125674410..125676549-chr8:125679730..125683032,4	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10956192	0.82[JPT][hapmap]
rs11774868	0.80[MEX][hapmap]
rs4870916	0.91[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs7016031	0.87[LWK][hapmap];0.85[MEX][hapmap];0.96[YRI][hapmap];0.83[AFR][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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4870918	ZHX2	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125673400-125680200	Weak transcription	HMEC	breast
3	chr8:125675400-125680800	Enhancers	Fetal Heart	heart
4	chr8:125675400-125685000	Weak transcription	Colonic Mucosa	Colon
5	chr8:125675600-125680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:125675600-125680200	Weak transcription	NHEK	skin
7	chr8:125675800-125680000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125675800-125680200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:125676000-125680400	Weak transcription	Esophagus	oesophagus
10	chr8:125676000-125681400	Weak transcription	Liver	Liver
11	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:125676400-125680000	Weak transcription	Thymus	Thymus
13	chr8:125676400-125680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:125676400-125685200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:125676600-125680200	Weak transcription	Lung	lung
16	chr8:125676600-125680800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:125676600-125681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:125676600-125683400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:125676600-125685200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:125677000-125680600	Weak transcription	Fetal Thymus	thymus
21	chr8:125677000-125682400	Weak transcription	NHDF-Ad	bronchial
22	chr8:125677000-125685600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:125677200-125680400	Weak transcription	Spleen	Spleen
24	chr8:125677200-125681400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:125677200-125682000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:125677200-125685600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:125677400-125681800	Weak transcription	Fetal Lung	lung
28	chr8:125677600-125680800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:125677600-125681600	Weak transcription	Fetal Stomach	stomach
30	chr8:125677600-125681800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:125677800-125681200	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:125678200-125680400	Enhancers	HepG2	liver
33	chr8:125678400-125688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:125678600-125684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:125678800-125681400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:125678800-125681600	Weak transcription	Fetal Kidney	kidney
37	chr8:125678800-125681800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:125678800-125686000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:125679000-125680200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:125679000-125680200	Weak transcription	Left Ventricle	heart
41	chr8:125679000-125680200	Weak transcription	Right Ventricle	heart
42	chr8:125679000-125680400	Weak transcription	Right Atrium	heart
43	chr8:125679000-125680400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:125679000-125680800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:125679000-125680800	Strong transcription	Fetal Intestine Small	intestine
46	chr8:125679000-125681200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:125679000-125681400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:125679000-125681400	Weak transcription	Fetal Intestine Large	intestine
49	chr8:125679000-125681800	Weak transcription	Adipose Nuclei	Adipose
50	chr8:125679000-125684200	Weak transcription	K562	blood

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