Variant report

Variant	rs7959064
Chromosome Location	chr12:10284158-10284159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:10283714-10284161	HL-60	blood:	n/a	n/a
2	POLR2A	chr12:10283588-10284186	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
CLEC7A	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1010981	0.80[YRI][hapmap]
rs11053608	0.80[YRI][hapmap]
rs12423632	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12829123	0.80[YRI][hapmap]
rs4399401	0.80[YRI][hapmap]
rs7309123	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7959064	LOC653113	cis	cerebellum	SCAN
rs7959064	GAPDH	cis	parietal	SCAN
rs7959064	ACRBP	cis	parietal	SCAN
rs7959064	LOH12CR1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10280600-10284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:10281200-10285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:10281400-10285000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:10281600-10284200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:10282400-10284400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:10282600-10284600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:10282800-10284200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:10282800-10284200	Weak transcription	Placenta	Placenta
9	chr12:10282800-10284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:10282800-10284400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:10283000-10284200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:10283000-10285600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:10283000-10286200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:10283200-10284600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:10283200-10284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:10283200-10285000	Weak transcription	NHEK	skin
17	chr12:10283400-10286000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:10283600-10284200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:10283600-10284400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:10283600-10284400	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:10283600-10285800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:10283800-10284200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:10283800-10284200	Enhancers	A549	lung
24	chr12:10284000-10284200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:10284000-10284400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:10284000-10285000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:10284000-10285000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:10284000-10285400	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links