Variant report

Variant	rs500899
Chromosome Location	chr18:43422280-43422281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43419258..43422556-chr18:43424650..43426680,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1055066	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs10853537	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11082490	0.87[CEU][hapmap]
rs11082491	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11661333	0.88[CEU][hapmap]
rs12455488	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12456289	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12458195	0.87[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12604912	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1371976	0.87[CEU][hapmap]
rs1660561	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790299	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1893523	0.87[CEU][hapmap]
rs2919643	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958437	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34185907	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35316177	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs492411	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs507653	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs570975	1.00[CEU][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs571690	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61104666	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7233909	0.91[CEU][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8083287	0.93[ASN][1000 genomes]
rs8085782	0.87[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8095439	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8099496	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9950673	0.88[ASN][1000 genomes]
rs9958081	0.84[EUR][1000 genomes];0.91[ASN][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43418400-43439000	Weak transcription	A549	lung
2	chr18:43418600-43437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:43419000-43422400	Weak transcription	Right Atrium	heart
4	chr18:43419000-43424200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:43419000-43425000	Weak transcription	Lung	lung
6	chr18:43419000-43429800	Weak transcription	Aorta	Aorta
7	chr18:43419200-43423200	Enhancers	Thymus	Thymus
8	chr18:43419200-43427200	Weak transcription	Ovary	ovary
9	chr18:43419200-43434000	Weak transcription	Small Intestine	intestine
10	chr18:43419400-43429600	Weak transcription	Right Ventricle	heart
11	chr18:43419600-43425200	Weak transcription	Spleen	Spleen
12	chr18:43419600-43428000	Weak transcription	Primary T cells from cord blood	blood
13	chr18:43419600-43428200	Weak transcription	Pancreas	Pancrea
14	chr18:43419600-43429400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr18:43419600-43429600	Weak transcription	Gastric	stomach
16	chr18:43419600-43429800	Weak transcription	Left Ventricle	heart
17	chr18:43419800-43431400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr18:43420000-43422800	Weak transcription	Liver	Liver
19	chr18:43420000-43423400	Enhancers	Fetal Thymus	thymus
20	chr18:43420000-43425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:43420000-43427600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:43420000-43428200	Weak transcription	NHLF	lung
23	chr18:43420000-43428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr18:43420000-43429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:43420000-43429200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr18:43420000-43429400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:43420000-43432400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:43420000-43436200	Weak transcription	Hela-S3	cervix
29	chr18:43420200-43429600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr18:43420200-43431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr18:43420400-43427200	Weak transcription	Osteobl	bone
33	chr18:43420600-43422400	Weak transcription	Fetal Intestine Small	intestine
34	chr18:43420600-43425000	Weak transcription	NH-A	brain
35	chr18:43420600-43427000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:43420600-43428000	Weak transcription	NHEK	skin
37	chr18:43420600-43429200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:43420600-43429200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:43420600-43429200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr18:43420600-43429200	Weak transcription	HSMM	muscle
41	chr18:43420600-43429400	Weak transcription	NHDF-Ad	bronchial
42	chr18:43420800-43427800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr18:43420800-43428000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:43420800-43429200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:43420800-43429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:43420800-43429200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr18:43420800-43435400	Weak transcription	HMEC	breast
48	chr18:43420800-43442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:43421000-43429000	Weak transcription	Brain Germinal Matrix	brain
50	chr18:43421200-43423200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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