Variant report

Variant	rs61323848
Chromosome Location	chr12:45004829-45004830
allele	G/T
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]
rs1376128	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1377000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55815562	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55876404	1.00[AMR][1000 genomes]
rs57006455	1.00[AMR][1000 genomes]
rs58229687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59701515	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60346357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60804250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61464392	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61577923	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276096	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276098	1.00[AMR][1000 genomes]
rs73284076	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287723	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079137	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079148	0.81[AFR][1000 genomes];1.00[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	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44986600-45006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:44992200-45006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:44993000-45006800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:44998000-45005600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:44998200-45024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:44998600-45005000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:44998800-45018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:44999600-45005000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:45001600-45005200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:45001600-45009800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:45001800-45005400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:45002600-45009600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:45003000-45005000	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:45003200-45014200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:45004600-45012600	Weak transcription	Brain Germinal Matrix	brain
17	chr12:45004800-45020800	Weak transcription	Fetal Brain Female	brain
18	chr12:45004800-45034800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:45004800-45043200	Weak transcription	Primary T cells fromperipheralblood	blood

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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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