Variant report

Variant	rs4952122
Chromosome Location	chr2:30552969-30552970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11127271	0.88[EUR][1000 genomes]
rs4496370	0.89[EUR][1000 genomes]
rs4530413	0.90[EUR][1000 genomes]
rs7578949	1.00[ASN][1000 genomes]
rs7604316	0.90[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30546200-30554800	Weak transcription	Spleen	Spleen
2	chr2:30547600-30554000	Weak transcription	Esophagus	oesophagus
3	chr2:30548800-30554000	Weak transcription	Fetal Heart	heart
4	chr2:30549000-30553800	Weak transcription	Primary T cells from cord blood	blood
5	chr2:30549000-30555200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:30549400-30554000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr2:30549400-30554400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:30549600-30557800	Weak transcription	Stomach Mucosa	stomach
9	chr2:30549800-30553600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:30549800-30555000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:30551800-30554800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:30552000-30554000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:30552000-30554000	Weak transcription	Pancreas	Pancrea
14	chr2:30552000-30555000	Weak transcription	Fetal Thymus	thymus
15	chr2:30552000-30556200	Weak transcription	Fetal Muscle Leg	muscle

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Input of quick search could be:

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

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