Variant report

Variant	rs74078474
Chromosome Location	chr12:44977123-44977124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56147425	1.00[AMR][1000 genomes]
rs56341304	1.00[AMR][1000 genomes]
rs57189846	1.00[AMR][1000 genomes]
rs57792241	1.00[AMR][1000 genomes]
rs58491255	1.00[AMR][1000 genomes]
rs74085005	1.00[AMR][1000 genomes]
rs74087507	1.00[AMR][1000 genomes]
rs74087508	1.00[AMR][1000 genomes]
rs74087522	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	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:20 , 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	chr12:44975600-44977400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:44975600-44977400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:44976000-44977200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:44976000-44979200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:44976200-44977200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:44976200-44977600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:44976400-44977400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:44976400-44977400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:44976400-44983600	Weak transcription	Brain Germinal Matrix	brain
13	chr12:44976600-44977200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:44976600-44978400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:44976800-44978200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:44976800-44978400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:44977000-44977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:44977000-44978200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:44977000-44978200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:44977000-44978400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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