Variant report

Variant	rs12248521
Chromosome Location	chr10:50899253-50899254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10047404	1.00[YRI][hapmap]
rs11527805	1.00[YRI][hapmap]
rs12251713	1.00[YRI][hapmap]
rs12261840	1.00[YRI][hapmap]
rs17010145	1.00[YRI][hapmap]

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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1848219	chr10:50897864-50903035	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50897000-50900200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
2	chr10:50898200-50899400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:50898200-50899600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr10:50898600-50899400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
5	chr10:50898600-50899400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr10:50898600-50899600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr10:50898600-50900200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr10:50898800-50900000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:50899000-50899400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:50899000-50900000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr10:50899000-50900000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:50899000-50900200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr10:50899000-50900200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:50899200-50899600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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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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