Variant report

Variant	rs72865603
Chromosome Location	chr2:30562288-30562289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30560615..30562781-chr2:30642971..30644684,2	K562	blood:
2	chr2:30560471..30562359-chr2:30883294..30885209,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11127272	1.00[EUR][1000 genomes]
rs17009351	1.00[EUR][1000 genomes]
rs4324357	1.00[EUR][1000 genomes]
rs4328679	1.00[EUR][1000 genomes]
rs4352268	1.00[EUR][1000 genomes]
rs56917916	1.00[EUR][1000 genomes]
rs57627825	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6741590	1.00[EUR][1000 genomes]
rs6752917	1.00[EUR][1000 genomes]
rs73923292	1.00[EUR][1000 genomes]
rs73925128	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:21 , 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	chr2:30558400-30562600	Weak transcription	NHLF	lung
4	chr2:30559800-30566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:30560200-30562800	Flanking Active TSS	GM12878-XiMat	blood
6	chr2:30560400-30562600	Enhancers	Fetal Thymus	thymus
7	chr2:30560400-30562800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:30560400-30564400	Weak transcription	Fetal Heart	heart
9	chr2:30560400-30569400	Weak transcription	Left Ventricle	heart
10	chr2:30560400-30569400	Weak transcription	Right Ventricle	heart
11	chr2:30560600-30562400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:30560600-30562600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:30560600-30563200	Enhancers	Primary B cells from cord blood	blood
14	chr2:30560600-30565000	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:30561000-30562400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:30561000-30562800	Enhancers	Primary T cells from cord blood	blood
17	chr2:30561000-30569400	Weak transcription	Spleen	Spleen
18	chr2:30561200-30562400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:30561200-30562600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:30561200-30562800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr2:30561200-30562800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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