Variant report

Variant	rs17094813
Chromosome Location	chr12:44972515-44972516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11615791	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17094799	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094811	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58044327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58889339	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs60845296	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs61262467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7299371	1.00[CHB][hapmap]
rs7304676	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087622	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]

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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2762976	chr12:44969431-45000228	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:44946400-44976400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:44965200-44976000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:44965400-44975800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:44965600-44975600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:44970200-44976000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:44971600-44973000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:44971600-44973200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:44971800-44973200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:44971800-44973400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:44971800-44973600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:44972000-44976000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:44972000-44976000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:44972200-44973600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:44972200-44973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:44972200-44975200	Enhancers	ES-UCSF4 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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