Variant report

Variant	rs1093405
Chromosome Location	chr2:33631126-33631127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs588436	0.82[EUR][1000 genomes]
rs589403	0.84[EUR][1000 genomes]
rs652230	0.84[EUR][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33623600-33632200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:33623800-33631800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:33623800-33636800	Weak transcription	Ovary	ovary
4	chr2:33623800-33636800	Weak transcription	NH-A	brain
5	chr2:33624000-33636400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:33624800-33634800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:33625800-33631800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:33629600-33641800	Weak transcription	Right Atrium	heart
9	chr2:33630000-33631200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:33630000-33632000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:33630400-33632000	Enhancers	HSMMtube	muscle
12	chr2:33630600-33632600	Enhancers	HSMM	muscle
13	chr2:33630800-33631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:33630800-33633000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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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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