Variant report

Variant	rs2162014
Chromosome Location	chr2:63345507-63345508
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10173115	0.81[GIH][hapmap]
rs1025132	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11890276	0.82[EUR][1000 genomes]
rs13002109	0.82[CHB][hapmap];0.87[GIH][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs2421860	0.85[YRI][hapmap]
rs2421916	0.83[CHB][hapmap];0.81[CHD][hapmap];0.87[ASN][1000 genomes]
rs4671457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723846	0.82[ASN][1000 genomes]
rs6754628	0.81[ASN][1000 genomes]
rs7603593	0.80[YRI][hapmap]
rs984682	0.89[CHB][hapmap];0.83[CHD][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63342600-63349600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:63343400-63345800	Weak transcription	Left Ventricle	heart
3	chr2:63343600-63349600	Weak transcription	Primary T cells from cord blood	blood
4	chr2:63344200-63345800	Weak transcription	Fetal Brain Female	brain
5	chr2:63344200-63348000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:63344400-63346000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:63344400-63350600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:63344400-63360400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:63344800-63350200	Weak transcription	Fetal Stomach	stomach
10	chr2:63345400-63346400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr2:63345400-63346400	Strong transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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