Variant report

Variant	rs4324357
Chromosome Location	chr2:30563548-30563549
allele	C/T
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:12)

rs_ID	r²[population]
rs11127272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17009351	1.00[EUR][1000 genomes]
rs4328679	0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4352268	1.00[EUR][1000 genomes]
rs56917916	1.00[EUR][1000 genomes]
rs57627825	1.00[EUR][1000 genomes]
rs6741590	1.00[EUR][1000 genomes]
rs6752917	0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72865603	1.00[EUR][1000 genomes]
rs73923292	1.00[EUR][1000 genomes]
rs73925128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7590947	1.00[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30554200-30569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30558000-30569400	Weak transcription	Esophagus	oesophagus
3	chr2:30559800-30566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:30560400-30564400	Weak transcription	Fetal Heart	heart
5	chr2:30560400-30569400	Weak transcription	Left Ventricle	heart
6	chr2:30560400-30569400	Weak transcription	Right Ventricle	heart
7	chr2:30560600-30565000	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:30561000-30569400	Weak transcription	Spleen	Spleen
9	chr2:30562400-30564600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:30562600-30563600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:30562800-30564600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:30563200-30564600	Weak transcription	Primary B cells from cord blood	blood

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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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