Variant report

Variant	rs56131640
Chromosome Location	chr2:235097963-235097964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16850591	0.83[AMR][1000 genomes]
rs59548955	1.00[EUR][1000 genomes]
rs6753274	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73999232	0.83[AMR][1000 genomes]
rs73999234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73999235	0.83[AMR][1000 genomes]
rs73999245	1.00[EUR][1000 genomes]
rs7569097	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:235078600-235098000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:235096400-235098400	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:235096600-235099000	Weak transcription	A549	lung
4	chr2:235097000-235098200	Flanking Active TSS	Dnd41	blood
5	chr2:235097400-235100200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:235097600-235098000	Enhancers	Primary B cells from cord blood	blood
7	chr2:235097600-235098400	Enhancers	Fetal Thymus	thymus
8	chr2:235097600-235098800	Enhancers	Esophagus	oesophagus
9	chr2:235097800-235098000	Enhancers	NHEK	skin
10	chr2:235097800-235098400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:235097800-235098400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:235097800-235098400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:235097800-235098600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:235097800-235098800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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