Variant report

Variant	rs8085782
Chromosome Location	chr18:43415923-43415924
allele	C/T
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	POLR2A	chr18:43415867-43417082	U87	brain:	n/a	n/a
2	POLR2A	chr18:43415861-43417088	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:43371899..43373574-chr18:43414036..43416865,2	MCF-7	breast:
2	chr18:43408715..43411346-chr18:43413639..43417024,3	MCF-7	breast:
3	chr18:43415173..43416849-chr18:43419226..43421360,2	K562	blood:

Variant related genes	Relation type
SIGLEC15	TF binding region
ENSG00000197046	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1055066	1.00[CEU][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap]
rs10853537	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11082489	0.96[MEX][hapmap]
rs11082490	1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11082491	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11082492	0.85[AMR][1000 genomes]
rs11082493	0.81[AMR][1000 genomes]
rs11661333	1.00[CEU][hapmap]
rs12455488	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12456289	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12458195	1.00[CEU][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12604912	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1371976	1.00[CEU][hapmap]
rs1660561	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1790299	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1893523	1.00[CEU][hapmap]
rs2919643	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2958437	0.82[ASN][1000 genomes]
rs34185907	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35316177	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492411	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs500899	0.87[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs507653	0.87[CEU][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs570975	0.87[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs571690	0.87[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61104666	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7233909	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8083287	0.88[EUR][1000 genomes]
rs8095439	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8099496	1.00[CEU][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9950673	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9958081	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43408400-43417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:43408800-43416400	Enhancers	Fetal Intestine Small	intestine
3	chr18:43409400-43418000	Weak transcription	NHDF-Ad	bronchial
4	chr18:43409800-43416600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:43409800-43417400	Weak transcription	Pancreas	Pancrea
6	chr18:43410400-43417400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr18:43412000-43417400	Enhancers	Duodenum Mucosa	Duodenum
8	chr18:43412000-43418000	Enhancers	Stomach Mucosa	stomach
9	chr18:43412600-43416600	Enhancers	Fetal Intestine Large	intestine
10	chr18:43412600-43417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:43412800-43420000	Enhancers	Primary hematopoietic stem cells	blood
12	chr18:43413000-43419600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:43413200-43417000	Weak transcription	NH-A	brain
14	chr18:43413400-43416200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr18:43414000-43417200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:43414600-43418400	Enhancers	Liver	Liver
17	chr18:43414800-43416000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:43415000-43417400	Weak transcription	Osteobl	bone
19	chr18:43415000-43417800	Weak transcription	HMEC	breast
20	chr18:43415200-43416000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr18:43415400-43416400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:43415400-43417400	Enhancers	Gastric	stomach
23	chr18:43415400-43417600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:43415600-43416600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:43415600-43417400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:43415800-43416000	Enhancers	Right Atrium	heart
27	chr18:43415800-43416600	Enhancers	Fetal Heart	heart
28	chr18:43415800-43418000	Enhancers	Small Intestine	intestine
29	chr18:43415800-43419600	Enhancers	Spleen	Spleen

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