Variant report

Variant	rs1031497
Chromosome Location	chr8:126591392-126591393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126502943..126504675-chr8:126590654..126593231,2	K562	blood:
2	chr8:126442285..126445207-chr8:126590362..126592465,3	MCF-7	breast:
3	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
4	chr8:126589816..126592471-chr8:126605971..126608086,2	MCF-7	breast:
5	chr8:126590849..126591449-chr8:126602043..126602895,2	MCF-7	breast:
6	chr8:126442143..126446665-chr8:126589959..126594389,6	MCF-7	breast:
7	chr8:126588355..126592631-chr8:126600736..126604091,3	MCF-7	breast:
8	chr8:126566131..126567706-chr8:126590874..126592733,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10086276	0.81[CEU][hapmap]
rs10086636	0.81[CEU][hapmap]
rs10111011	0.81[CEU][hapmap]
rs1031498	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1963945	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870946	0.81[CEU][hapmap]
rs4871618	0.80[CEU][hapmap]
rs4871619	0.81[CEU][hapmap]
rs6981560	0.81[CEU][hapmap]
rs6986030	0.81[CEU][hapmap]
rs6986139	0.81[CEU][hapmap]
rs6986305	0.81[CEU][hapmap]
rs7008590	0.84[CEU][hapmap];0.85[GIH][hapmap]
rs729797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs897158	0.81[CEU][hapmap]
rs897161	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1031497	ZNF572	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126587000-126594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126587800-126594800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:126588200-126591600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr8:126588200-126592800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:126588800-126592200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr8:126588800-126592200	Flanking Active TSS	Liver	Liver
7	chr8:126589000-126591400	Weak transcription	Small Intestine	intestine
8	chr8:126589400-126591600	Weak transcription	HMEC	breast
9	chr8:126589600-126594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:126589800-126591800	Weak transcription	Gastric	stomach
11	chr8:126589800-126592200	Enhancers	Primary B cells from cord blood	blood
12	chr8:126589800-126594400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:126590400-126592400	Enhancers	Fetal Heart	heart
14	chr8:126590400-126592600	Enhancers	Fetal Intestine Small	intestine
15	chr8:126590400-126592600	Enhancers	Placenta	Placenta
16	chr8:126590400-126592600	Enhancers	Pancreas	Pancrea
17	chr8:126590600-126591400	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr8:126590600-126592200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:126590600-126592400	Enhancers	Spleen	Spleen
20	chr8:126590600-126592400	Enhancers	NHEK	skin
21	chr8:126590600-126592600	Enhancers	Colonic Mucosa	Colon
22	chr8:126590800-126591600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:126590800-126591600	Enhancers	A549	lung
24	chr8:126590800-126592000	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:126590800-126592000	Flanking Active TSS	Hela-S3	cervix
26	chr8:126590800-126592200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:126590800-126592200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr8:126590800-126592600	Enhancers	Lung	lung
29	chr8:126591000-126591400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr8:126591000-126591400	Enhancers	Fetal Lung	lung
31	chr8:126591000-126591400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:126591000-126591600	Enhancers	GM12878-XiMat	blood
33	chr8:126591000-126592800	Enhancers	K562	blood
34	chr8:126591200-126592000	Enhancers	Fetal Intestine Large	intestine
35	chr8:126591200-126592000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:126591200-126592200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:126591200-126592400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:126591200-126592400	Enhancers	Fetal Muscle Leg	muscle
39	chr8:126591200-126592600	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:126591200-126592600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:126591200-126592600	Enhancers	Stomach Mucosa	stomach
42	chr8:126591200-126592800	Enhancers	Fetal Kidney	kidney

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