Variant report

Variant	rs4618031
Chromosome Location	chr2:206413341-206413342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10469758	0.83[AMR][1000 genomes]
rs10932117	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11684023	1.00[AMR][1000 genomes]
rs12471061	0.83[AMR][1000 genomes]
rs1473084	1.00[AMR][1000 genomes]
rs1974688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1988085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2160383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2216109	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2878751	1.00[AMR][1000 genomes]
rs4625893	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675533	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4675534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6730102	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743334	1.00[AMR][1000 genomes]
rs7349394	1.00[AMR][1000 genomes]
rs7355229	0.86[AFR][1000 genomes]
rs738074	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594189	0.83[AMR][1000 genomes]
rs764150	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9288368	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs975103	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs991689	1.00[AMR][1000 genomes]
rs9973667	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206405000-206446600	Weak transcription	Ovary	ovary
2	chr2:206405200-206430600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:206405400-206421600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:206405600-206435400	Weak transcription	Fetal Stomach	stomach
5	chr2:206405600-206445000	Weak transcription	HSMMtube	muscle
6	chr2:206407400-206415000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:206409000-206431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:206409600-206420400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:206410000-206427400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:206411000-206420400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:206411000-206439000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:206411600-206420400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:206412600-206414000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr2:206412600-206421800	Weak transcription	Aorta	Aorta
15	chr2:206412800-206413800	Weak transcription	Monocytes-CD14+_RO01746	blood

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