Variant report

Variant	rs17198316
Chromosome Location	chr2:206144690-206144691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11686569	0.82[EUR][1000 genomes]
rs13424800	0.83[EUR][1000 genomes]
rs17197657	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs17251025	0.83[EUR][1000 genomes]
rs17251602	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62171469	0.94[EUR][1000 genomes]
rs62171470	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62171471	0.82[EUR][1000 genomes]
rs62171474	0.82[EUR][1000 genomes]
rs62171476	0.82[EUR][1000 genomes]
rs62171478	0.82[EUR][1000 genomes]
rs62171479	0.82[EUR][1000 genomes]
rs62171481	0.82[EUR][1000 genomes]
rs62172745	0.81[EUR][1000 genomes]
rs9288362	0.82[CEU][hapmap]
rs9288363	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206108400-206145200	Weak transcription	HSMM	muscle
3	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
4	chr2:206138800-206162200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:206141400-206147600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:206141600-206148400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:206141800-206146000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:206141800-206146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:206141800-206148000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:206141800-206148200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:206142000-206146000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:206142000-206148600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:206143000-206148200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:206144000-206146600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:206144400-206146000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:206144600-206146000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:206144600-206146200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:206144600-206146200	Enhancers	Fetal Lung	lung
19	chr2:206144600-206147600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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