Variant report

Variant	rs4912350
Chromosome Location	chr1:59054931-59054932
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	chr1:59049910..59054215-chr1:59054903..59060265,8	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11582691	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12407003	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs12563531	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs12566499	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12566513	0.85[EUR][1000 genomes]
rs12741058	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12742998	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12749125	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12754860	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12756352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151311	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs338227	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs35384056	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3887697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912899	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4912351	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4912352	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6587830	0.84[CHD][hapmap];0.83[JPT][hapmap]
rs67206940	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71511492	0.84[EUR][1000 genomes];0.81[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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59049400-59057800	Weak transcription	Gastric	stomach
2	chr1:59050600-59057400	Weak transcription	Right Atrium	heart
3	chr1:59051200-59056000	Weak transcription	Pancreas	Pancrea
4	chr1:59051200-59063400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:59051800-59057600	Weak transcription	A549	lung
6	chr1:59052000-59057200	Weak transcription	Hela-S3	cervix
7	chr1:59052200-59057000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59052400-59055600	Weak transcription	NHDF-Ad	bronchial
9	chr1:59052400-59056800	Weak transcription	Aorta	Aorta
10	chr1:59052400-59058000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:59052600-59057800	Weak transcription	NH-A	brain
12	chr1:59052600-59057800	Weak transcription	NHLF	lung
13	chr1:59052800-59055800	Weak transcription	HMEC	breast
14	chr1:59052800-59056400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:59052800-59057200	Weak transcription	HSMMtube	muscle
16	chr1:59052800-59057400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:59052800-59057400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:59052800-59057400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:59052800-59057400	Weak transcription	Esophagus	oesophagus
20	chr1:59052800-59057400	Weak transcription	Ovary	ovary
21	chr1:59052800-59057400	Weak transcription	HSMM	muscle
22	chr1:59052800-59057600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:59053000-59057200	Weak transcription	HUVEC	blood vessel
24	chr1:59053000-59057600	Weak transcription	Osteobl	bone
25	chr1:59053800-59055400	Enhancers	NHEK	skin
26	chr1:59054000-59055200	Enhancers	Fetal Lung	lung
27	chr1:59054000-59056600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:59054200-59055200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:59054200-59055800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:59054400-59059400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:59054600-59055200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:59054600-59055200	Enhancers	Lung	lung
33	chr1:59054800-59055000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:59054800-59057600	Weak transcription	Placenta	Placenta
35	chr1:59054800-59057800	Weak transcription	Spleen	Spleen

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