Variant report

Variant	rs4870907
Chromosome Location	chr8:125603057-125603058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125561468..125564818-chr8:125602459..125606146,3	K562	blood:
2	chr8:125602405..125607045-chr8:125825769..125829252,7	K562	blood:
3	chr8:125462126..125464672-chr8:125602969..125605366,2	MCF-7	breast:
4	chr8:125595595..125597399-chr8:125601686..125604511,2	MCF-7	breast:
5	chr8:125602831..125606527-chr8:125825901..125829225,5	K562	blood:
6	chr8:125601699..125603557-chr8:125863717..125866161,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000183665	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10956190	1.00[CEU][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13257822	0.96[CEU][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3857947	0.86[JPT][hapmap]
rs4007926	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.88[MEX][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870906	0.85[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871509	0.92[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4871510	0.92[CEU][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7010757	0.83[CHD][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3397815	chr8:125599381-125603392	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3490340	chr8:125599453-125603469	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3490342	chr8:125599453-125603469	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv5049	chr8:125599474-125603393	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4870907	ZNF572	cis	cerebellum	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
4	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
7	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
8	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
9	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
10	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
11	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:125590800-125603600	Strong transcription	HepG2	liver
13	chr8:125591400-125603600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:125592000-125605400	Weak transcription	Osteobl	bone
15	chr8:125592000-125605600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:125592200-125604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:125592200-125605400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:125592400-125603400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:125592600-125605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:125593600-125606800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:125594000-125603600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:125596000-125605800	Weak transcription	HSMM	muscle
23	chr8:125596200-125603400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:125596200-125616400	Weak transcription	HSMMtube	muscle
25	chr8:125596400-125609800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:125596800-125605000	Weak transcription	HUVEC	blood vessel
27	chr8:125597000-125603800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:125597200-125607000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:125598200-125603600	Strong transcription	Brain Germinal Matrix	brain
30	chr8:125598200-125603600	Strong transcription	Fetal Intestine Small	intestine
31	chr8:125598400-125604400	Weak transcription	Primary T cells from cord blood	blood
32	chr8:125598400-125605000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:125598600-125603600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:125598600-125605000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:125598800-125603200	Strong transcription	Fetal Brain Female	brain
36	chr8:125598800-125603400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:125598800-125603400	Strong transcription	Fetal Intestine Large	intestine
38	chr8:125598800-125603600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr8:125598800-125603600	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:125598800-125605400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:125599000-125603600	Strong transcription	Spleen	Spleen
42	chr8:125599000-125605400	Weak transcription	Fetal Heart	heart
43	chr8:125599200-125603600	Strong transcription	Liver	Liver
44	chr8:125599200-125604600	Weak transcription	Thymus	Thymus
45	chr8:125599400-125603600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr8:125599400-125604400	Weak transcription	Fetal Thymus	thymus
47	chr8:125600000-125603600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:125600200-125603200	Strong transcription	Adipose Nuclei	Adipose
49	chr8:125600200-125603200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:125600200-125603400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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