Variant report

Variant	rs4870916
Chromosome Location	chr8:125677005-125677006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125675068..125677488-chr8:125678936..125680854,2	K562	blood:
2	chr8:125675687..125677543-chr8:125681437..125683937,2	K562	blood:
3	chr8:125671389..125674362-chr8:125674838..125677120,3	K562	blood:
4	chr8:125662816..125665180-chr8:125675490..125677732,2	K562	blood:
5	chr8:125676205..125678363-chr8:125679206..125681734,2	MCF-7	breast:
6	chr8:125665987..125668310-chr8:125675466..125678382,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10956192	0.81[MEX][hapmap]
rs10956193	0.81[YRI][hapmap]
rs4870918	0.91[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs6470257	0.87[MEX][hapmap]
rs6981365	0.81[MEX][hapmap]

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
rs4870916	ZHX2	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
2	chr8:125671800-125677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr8:125672600-125679600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:125672800-125679600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:125673200-125677600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:125673200-125678400	Weak transcription	Fetal Intestine Large	intestine
8	chr8:125673200-125678600	Weak transcription	Placenta	Placenta
9	chr8:125673400-125678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:125673400-125678400	Weak transcription	Small Intestine	intestine
11	chr8:125673400-125680200	Weak transcription	HMEC	breast
12	chr8:125673800-125677400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:125674000-125678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:125674000-125678200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:125674200-125678200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:125674200-125678200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:125674200-125678200	Weak transcription	Fetal Brain Male	brain
18	chr8:125674200-125678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:125674400-125678200	Weak transcription	HepG2	liver
20	chr8:125674600-125679000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:125675000-125677800	Enhancers	Right Ventricle	heart
22	chr8:125675200-125677200	Enhancers	K562	blood
23	chr8:125675200-125677600	Enhancers	Stomach Mucosa	stomach
24	chr8:125675200-125679000	Enhancers	Adipose Nuclei	Adipose
25	chr8:125675200-125679000	Enhancers	Left Ventricle	heart
26	chr8:125675200-125679200	Enhancers	Brain Hippocampus Middle	brain
27	chr8:125675200-125679400	Enhancers	Psoas Muscle	Psoas
28	chr8:125675200-125679600	Enhancers	Fetal Muscle Leg	muscle
29	chr8:125675200-125679600	Enhancers	Gastric	stomach
30	chr8:125675400-125677200	Enhancers	Brain Substantia Nigra	brain
31	chr8:125675400-125680800	Enhancers	Fetal Heart	heart
32	chr8:125675400-125685000	Weak transcription	Colonic Mucosa	Colon
33	chr8:125675600-125677200	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:125675600-125678200	Weak transcription	Fetal Kidney	kidney
35	chr8:125675600-125680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:125675600-125680200	Weak transcription	NHEK	skin
37	chr8:125675800-125678800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:125675800-125680000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:125675800-125680200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:125676000-125677200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr8:125676000-125680400	Weak transcription	Esophagus	oesophagus
42	chr8:125676000-125681400	Weak transcription	Liver	Liver
43	chr8:125676200-125677200	Enhancers	HSMMtube	muscle
44	chr8:125676200-125678200	Weak transcription	Brain Anterior Caudate	brain
45	chr8:125676200-125678200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:125676200-125678800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:125676200-125679400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:125676400-125677200	Enhancers	Rectal Smooth Muscle	rectum
50	chr8:125676400-125678200	Weak transcription	Brain Germinal Matrix	brain

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