Variant report

Variant	rs17094822
Chromosome Location	chr12:44983035-44983036
allele	A/G
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:18)

rs_ID	r²[population]
rs11182637	1.00[AMR][1000 genomes]
rs11182642	1.00[AMR][1000 genomes]
rs11182643	1.00[AMR][1000 genomes]
rs11182644	1.00[AMR][1000 genomes]
rs11182645	1.00[AMR][1000 genomes]
rs11182648	1.00[AMR][1000 genomes]
rs11182649	1.00[AMR][1000 genomes]
rs11182650	1.00[AMR][1000 genomes]
rs11182651	1.00[AMR][1000 genomes]
rs11182652	1.00[AMR][1000 genomes]
rs17094775	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17094809	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17094817	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094832	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17094847	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17094988	1.00[AMR][1000 genomes]
rs7965452	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7979953	1.00[YRI][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	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:14 , 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	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:44976400-44983600	Weak transcription	Brain Germinal Matrix	brain
5	chr12:44977200-44984400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:44977400-44988600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:44977400-44995200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:44977400-44998800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:44979000-44984200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:44982400-44983400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:44982400-44983400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:44982800-44983800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:44983000-44983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:44983000-44983600	Weak transcription	iPS-18 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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