Variant report

Variant	rs2300047
Chromosome Location	chr7:108066326-108066327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1016040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10224567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10236888	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1034827	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10487855	0.87[EUR][1000 genomes]
rs12531222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540524	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1558036	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1558038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17338021	1.00[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs1859766	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2057981	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2057982	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4591957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108056800-108071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:108057200-108067200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:108057600-108067000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:108057600-108069000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:108058800-108067400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:108058800-108071200	Weak transcription	Pancreas	Pancrea
7	chr7:108059800-108073400	Weak transcription	Fetal Brain Female	brain
8	chr7:108061200-108067000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:108062800-108066800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:108063200-108070400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:108064000-108068000	Weak transcription	HUVEC	blood vessel
12	chr7:108065000-108070000	Enhancers	A549	lung
13	chr7:108065000-108071000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:108065400-108067400	Enhancers	HMEC	breast
15	chr7:108065800-108067000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:108065800-108067200	Enhancers	NHEK	skin
17	chr7:108066000-108067200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:108066200-108066400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:108066200-108067000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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