Variant report

Variant	rs12333408
Chromosome Location	chr7:21429033-21429034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2079491	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73056578	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016705	chr7:21257416-21450943	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv516499	chr7:21427618-21431809	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522356	chr7:21427618-21439191	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21427800-21429400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr7:21427800-21429400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:21427800-21429600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:21428000-21429400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:21428000-21429600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:21428000-21429600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:21428200-21429200	Weak transcription	H9 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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