Variant report

Variant	rs1442105
Chromosome Location	chr4:47212066-47212067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10021932	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1023775	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1023776	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11727585	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11728647	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12501039	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13125961	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13131816	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1372486	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1442097	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1963910	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2119779	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6447539	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7660544	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv879003	chr4:47102993-47215939	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	nsv1013512	chr4:47178547-47213133	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv537079	chr4:47178547-47213133	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47209200-47215600	Weak transcription	Fetal Heart	heart
2	chr4:47211200-47213200	Enhancers	NH-A	brain
3	chr4:47211400-47213400	Enhancers	Osteobl	bone
4	chr4:47211400-47213800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:47211600-47212600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:47211600-47212600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:47211600-47213200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:47211600-47213200	Enhancers	HMEC	breast
9	chr4:47211600-47213200	Enhancers	HSMM	muscle
10	chr4:47211600-47217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:47211800-47212800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:47211800-47213200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:47211800-47216200	Weak transcription	NHLF	lung
14	chr4:47212000-47213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:47212000-47213400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:47212000-47216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:47212000-47216200	Weak transcription	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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