Variant report

Variant	rs72939241
Chromosome Location	chr2:40532536-40532537
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1035160	0.87[AMR][1000 genomes]
rs60637114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60759204	1.00[AMR][1000 genomes]
rs72939245	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943146	0.84[AFR][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40518200-40540600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40528800-40541400	Weak transcription	Dnd41	blood
3	chr2:40529800-40532600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:40530200-40536200	Enhancers	Fetal Heart	heart
5	chr2:40530400-40532600	Enhancers	Left Ventricle	heart
6	chr2:40530400-40534000	Enhancers	Right Ventricle	heart
7	chr2:40530600-40533200	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:40530600-40533600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:40531400-40533200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:40531400-40534400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:40531800-40532800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:40531800-40542600	Weak transcription	Osteobl	bone
13	chr2:40532000-40533000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:40532000-40544800	Weak transcription	HSMM	muscle
15	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:40532200-40542400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:40532400-40533600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:40532400-40534800	Weak transcription	Right Atrium	heart

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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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