Variant report

Variant	rs12604912
Chromosome Location	chr18:43420584-43420585
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43415173..43416849-chr18:43419226..43421360,2	K562	blood:
2	chr18:43418723..43420933-chr18:43457769..43459405,2	MCF-7	breast:
3	chr18:43419258..43422556-chr18:43424650..43426680,3	MCF-7	breast:
4	chr18:43418878..43420998-chr18:43424015..43426139,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10853537	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11082490	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11082491	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11082492	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11082493	0.80[AMR][1000 genomes]
rs12455488	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12456289	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12458195	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1660561	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790299	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2919643	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2958437	0.90[ASN][1000 genomes]
rs34185907	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35316177	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492411	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs500899	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs507653	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs570975	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs571690	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61104666	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233909	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8083287	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8085782	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8095439	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8099496	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9950673	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9958081	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43417000-43420600	Enhancers	NH-A	brain
2	chr18:43417400-43420800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr18:43417800-43420800	Enhancers	HMEC	breast
4	chr18:43418000-43420600	Enhancers	NHDF-Ad	bronchial
5	chr18:43418400-43439000	Weak transcription	A549	lung
6	chr18:43418600-43437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:43419000-43420600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr18:43419000-43422400	Weak transcription	Right Atrium	heart
9	chr18:43419000-43424200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:43419000-43425000	Weak transcription	Lung	lung
11	chr18:43419000-43429800	Weak transcription	Aorta	Aorta
12	chr18:43419200-43420600	Enhancers	NHEK	skin
13	chr18:43419200-43420800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:43419200-43420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:43419200-43420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:43419200-43421000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:43419200-43423200	Enhancers	Thymus	Thymus
18	chr18:43419200-43427200	Weak transcription	Ovary	ovary
19	chr18:43419200-43434000	Weak transcription	Small Intestine	intestine
20	chr18:43419400-43420800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:43419400-43420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:43419400-43429600	Weak transcription	Right Ventricle	heart
23	chr18:43419600-43420800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:43419600-43425200	Weak transcription	Spleen	Spleen
25	chr18:43419600-43428000	Weak transcription	Primary T cells from cord blood	blood
26	chr18:43419600-43428200	Weak transcription	Pancreas	Pancrea
27	chr18:43419600-43429400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr18:43419600-43429600	Weak transcription	Gastric	stomach
29	chr18:43419600-43429800	Weak transcription	Left Ventricle	heart
30	chr18:43419800-43431400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr18:43420000-43422800	Weak transcription	Liver	Liver
32	chr18:43420000-43423400	Enhancers	Fetal Thymus	thymus
33	chr18:43420000-43425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr18:43420000-43427600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:43420000-43428200	Weak transcription	NHLF	lung
36	chr18:43420000-43428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:43420000-43429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:43420000-43429200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr18:43420000-43429400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr18:43420000-43432400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:43420000-43436200	Weak transcription	Hela-S3	cervix
42	chr18:43420200-43420600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:43420200-43429600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr18:43420200-43431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr18:43420400-43420600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:43420400-43420600	Enhancers	GM12878-XiMat	blood
48	chr18:43420400-43420600	Enhancers	HSMM	muscle
49	chr18:43420400-43421200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr18:43420400-43427200	Weak transcription	Osteobl	bone

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