Variant report

Variant	rs72811749
Chromosome Location	chr2:56192479-56192480
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10185650	1.00[ASN][1000 genomes]
rs17279203	1.00[ASN][1000 genomes]
rs4671266	0.88[ASN][1000 genomes]
rs4671267	0.88[ASN][1000 genomes]
rs4672079	1.00[ASN][1000 genomes]
rs55907638	0.83[ASN][1000 genomes]
rs72811720	0.86[EUR][1000 genomes]
rs72811729	0.85[EUR][1000 genomes]
rs72813862	0.88[ASN][1000 genomes]
rs72813866	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56186400-56193200	Weak transcription	NH-A	brain
2	chr2:56188600-56192600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:56188800-56193000	Weak transcription	Fetal Lung	lung
4	chr2:56189000-56193200	Weak transcription	HSMM	muscle
5	chr2:56189200-56193000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:56189200-56193000	Weak transcription	Osteobl	bone
7	chr2:56189200-56193200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:56190000-56192600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56190800-56193000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56191000-56195800	Enhancers	HUVEC	blood vessel
11	chr2:56191600-56192600	Weak transcription	Right Atrium	heart
12	chr2:56192000-56194000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:56192200-56193000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:56192200-56194200	Enhancers	Colon Smooth Muscle	Colon
15	chr2:56192400-56194000	Enhancers	Ovary	ovary
16	chr2:56192400-56194000	Enhancers	Pancreas	Pancrea
17	chr2:56192400-56194200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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