Variant report

Variant	rs2568666
Chromosome Location	chr2:183105740-183105741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1481629	1.00[YRI][hapmap]
rs167284	1.00[YRI][hapmap]
rs2128044	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2170401	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2568665	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2568683	1.00[YRI][hapmap]
rs2568684	1.00[YRI][hapmap]
rs2623420	1.00[YRI][hapmap]
rs73046044	0.87[AFR][1000 genomes]
rs73046050	1.00[AFR][1000 genomes]
rs73046062	0.87[AFR][1000 genomes]
rs833130	1.00[YRI][hapmap]
rs833131	1.00[YRI][hapmap]
rs833139	1.00[YRI][hapmap]
rs964756	1.00[YRI][hapmap]

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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1805452	chr2:183086478-183107270	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1809585	chr2:183086478-183107270	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island 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	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
2	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:183095800-183106000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:183098200-183105800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:183099400-183107200	Weak transcription	Fetal Brain Male	brain
6	chr2:183100600-183105800	Weak transcription	Right Ventricle	heart
7	chr2:183102600-183105800	Weak transcription	Fetal Stomach	stomach
8	chr2:183104600-183112800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183105000-183109400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:183105000-183110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:183105400-183106200	Enhancers	Brain Hippocampus Middle	brain
12	chr2:183105600-183105800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:183105600-183106000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:183105600-183106000	Enhancers	HUVEC	blood vessel
15	chr2:183105600-183106200	Enhancers	Adipose Nuclei	Adipose
16	chr2:183105600-183106200	Enhancers	Brain Angular Gyrus	brain
17	chr2:183105600-183106200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:183105600-183107200	Enhancers	ES-I3 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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