Variant report

Variant	rs41317473
Chromosome Location	chr1:185986239-185986240
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185984759..185987370-chr1:185991032..185993394,2	K562	blood:
2	chr1:185982123..185983643-chr1:185983704..185986559,2	MCF-7	breast:
3	chr1:185984743..185986482-chr1:185986576..185988727,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1116146	1.00[AMR][1000 genomes]
rs11576597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11580879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11581389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11586165	0.83[EUR][1000 genomes]
rs12067376	1.00[EUR][1000 genomes]
rs16825012	0.83[EUR][1000 genomes]
rs41317489	0.83[EUR][1000 genomes]
rs41317491	0.83[EUR][1000 genomes]
rs6695626	0.83[EUR][1000 genomes]
rs72707448	0.83[EUR][1000 genomes]
rs72707452	0.83[EUR][1000 genomes]
rs72707455	0.83[EUR][1000 genomes]
rs72707472	0.83[EUR][1000 genomes]
rs72707476	0.83[EUR][1000 genomes]
rs72718862	1.00[AMR][1000 genomes]
rs72718875	1.00[AMR][1000 genomes]
rs72718880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72718885	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72718888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720904	0.83[EUR][1000 genomes]
rs72720910	0.83[EUR][1000 genomes]
rs72720911	0.83[EUR][1000 genomes]
rs7518663	0.83[EUR][1000 genomes]
rs9661710	0.83[EUR][1000 genomes]

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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185938800-185990200	Weak transcription	Liver	Liver
3	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
5	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
6	chr1:185964200-186014800	Weak transcription	Lung	lung
7	chr1:185979200-185992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:185979200-186003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:185979400-186003200	Weak transcription	Aorta	Aorta
10	chr1:185983800-185988000	Weak transcription	Ovary	ovary
11	chr1:185984000-185987600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:185984000-185999000	Weak transcription	NHDF-Ad	bronchial
13	chr1:185984400-185987800	Weak transcription	Fetal Kidney	kidney
14	chr1:185984600-185995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:185985400-186023800	Weak transcription	Left Ventricle	heart
16	chr1:185986000-185986400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:185986000-185986400	Enhancers	Osteobl	bone
18	chr1:185986000-185986800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:185986200-185986600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:185986200-185987200	Enhancers	HUVEC	blood vessel

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