Variant report

Variant	rs16867494
Chromosome Location	chr2:182617875-182617876
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10190772	0.82[CHB][hapmap]
rs10497586	0.94[ASN][1000 genomes]
rs11895376	0.82[CHB][hapmap]
rs12618902	0.91[ASN][1000 genomes]
rs12620901	0.93[CHB][hapmap]
rs13396043	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1343793	0.82[CHB][hapmap]
rs1528028	0.91[ASN][1000 genomes]
rs16867495	0.81[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs16867496	0.88[ASN][1000 genomes]
rs4597474	0.93[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs57281910	0.91[ASN][1000 genomes]
rs59159077	0.91[ASN][1000 genomes]
rs60200067	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 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	chr2:182612800-182619800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182615400-182618200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:182615400-182618600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:182615600-182618600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:182615600-182620200	Enhancers	Hela-S3	cervix
6	chr2:182616000-182618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:182616600-182619400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:182616600-182619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:182616800-182618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:182616800-182619200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:182616800-182619200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:182616800-182619400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:182616800-182619400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:182616800-182631000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:182617200-182618600	Enhancers	Stomach Mucosa	stomach
16	chr2:182617400-182618400	Weak transcription	Brain Substantia Nigra	brain
17	chr2:182617400-182618800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:182617600-182619200	Enhancers	Placenta	Placenta
19	chr2:182617600-182625000	Weak transcription	Brain Hippocampus Middle	brain

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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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