Variant report

Variant	rs12512923
Chromosome Location	chr4:144360659-144360660
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:144360549-144360749	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GAB1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11725272	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11933502	0.82[EUR][1000 genomes]
rs11936966	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11945261	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13112122	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13112412	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13114896	0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs13128753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397529	0.80[TSI][hapmap]
rs17017801	0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs1995931	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28776014	0.81[EUR][1000 genomes]
rs28925907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28925926	0.81[EUR][1000 genomes]
rs28925939	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35152330	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3795246	0.82[EUR][1000 genomes]
rs4690785	0.85[CEU][hapmap];0.82[CHD][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59727559	0.81[EUR][1000 genomes]
rs6833624	0.81[EUR][1000 genomes]
rs6837464	0.83[ASN][1000 genomes]
rs7696619	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs7698825	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9684453	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9685389	0.81[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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12512923	ZNF827	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:144327800-144388200	Weak transcription	HepG2	liver
4	chr4:144333000-144364600	Weak transcription	NHEK	skin
5	chr4:144333400-144362400	Weak transcription	NH-A	brain
6	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
8	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
9	chr4:144344000-144363000	Weak transcription	Spleen	Spleen
10	chr4:144347000-144382600	Weak transcription	Gastric	stomach
11	chr4:144351600-144365000	Weak transcription	NHLF	lung
12	chr4:144352400-144382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:144353000-144365400	Weak transcription	Small Intestine	intestine
14	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
15	chr4:144353600-144361200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:144353600-144363000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:144354600-144364000	Strong transcription	Primary B cells from cord blood	blood
19	chr4:144355200-144361400	Weak transcription	Brain Angular Gyrus	brain
20	chr4:144355200-144382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:144355600-144388200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr4:144355800-144362600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:144356000-144371600	Weak transcription	Fetal Intestine Small	intestine
24	chr4:144357400-144362200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:144357400-144363200	Strong transcription	Fetal Intestine Large	intestine
26	chr4:144357600-144362000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:144357800-144365000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:144358000-144362600	Strong transcription	Placenta	Placenta
29	chr4:144358000-144366800	Weak transcription	Thymus	Thymus
30	chr4:144358200-144387000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:144358400-144361400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:144358400-144362600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:144358400-144363400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:144358400-144384400	Weak transcription	HSMM	muscle
35	chr4:144358600-144362000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:144358600-144362600	Strong transcription	Fetal Lung	lung
37	chr4:144358800-144362200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:144358800-144362400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr4:144358800-144362600	Strong transcription	Liver	Liver
40	chr4:144359000-144362000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:144359000-144362000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:144359000-144363600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr4:144359000-144363800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:144359200-144361600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr4:144359200-144361800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:144359200-144361800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:144359200-144362000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:144359200-144362000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:144359200-144362000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:144359200-144362000	Strong transcription	Adipose Nuclei	Adipose

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