Variant report

Variant	rs10198813
Chromosome Location	chr2:205706704-205706705
allele	A/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:17)

rs_ID	r²[population]
rs10167760	1.00[AMR][1000 genomes]
rs10198208	0.95[EUR][1000 genomes]
rs10198512	0.95[EUR][1000 genomes]
rs13397994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13409991	0.85[EUR][1000 genomes]
rs13417068	0.85[EUR][1000 genomes]
rs13423367	0.89[EUR][1000 genomes]
rs13426810	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13426874	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16836701	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16836720	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17457577	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17535452	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28676310	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2878560	0.85[EUR][1000 genomes]
rs62177846	0.81[AFR][1000 genomes]
rs62179369	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875727	chr2:205626483-205715245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv3120	chr2:205695611-205713292	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3459948	chr2:205705963-205712223	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3459947	chr2:205706103-205712058	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3459949	chr2:205706103-205712058	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv12848	chr2:205706215-205711954	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205693400-205714600	Weak transcription	Fetal Kidney	kidney
2	chr2:205705200-205708400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:205706000-205707000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:205706000-205707000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:205706200-205707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:205706200-205707400	Weak transcription	Ovary	ovary
7	chr2:205706600-205707000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:205706600-205707600	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:205706600-205707600	Enhancers	HUVEC	blood vessel

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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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