Variant report

Variant	rs11053625
Chromosome Location	chr12:10283952-10283953
allele	A/C
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: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11834419	1.00[CHD][hapmap]
rs12304486	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4322502	1.00[CHD][hapmap]
rs7311598	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11053625	CLEC9A	cis	parietal	SCAN
rs11053625	LOH12CR1	cis	cerebellum	SCAN
rs11053625	CLEC4E	cis	cerebellum	SCAN

Chromatin state (count:31 , 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	chr12:10282400-10284000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:10282400-10284400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr12:10282600-10284600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:10282800-10284200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:10282800-10284200	Weak transcription	Placenta	Placenta
10	chr12:10282800-10284400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:10282800-10284400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:10283000-10284000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:10283000-10284200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:10283000-10285600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:10283000-10286200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:10283200-10284600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:10283200-10284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:10283200-10285000	Weak transcription	NHEK	skin
19	chr12:10283400-10286000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:10283600-10284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:10283600-10284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:10283600-10284000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:10283600-10284000	Bivalent Enhancer	GM12878-XiMat	blood
24	chr12:10283600-10284200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:10283600-10284400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:10283600-10284400	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:10283600-10285800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:10283800-10284000	Active TSS	Primary B cells from cord blood	blood
29	chr12:10283800-10284000	Enhancers	Fetal Heart	heart
30	chr12:10283800-10284200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:10283800-10284200	Enhancers	A549	lung

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