Variant report

Variant	rs1795963
Chromosome Location	chr12:122281575-122281576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122233750..122235610-chr12:122279826..122282570,2	K562	blood:
2	chr12:122270278..122272801-chr12:122280369..122282682,2	K562	blood:
3	chr12:122277494..122279304-chr12:122281491..122283464,2	K562	blood:

Variant related genes	Relation type
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11043222	0.82[ASN][1000 genomes]
rs1154510	0.85[ASN][1000 genomes]
rs1154515	0.86[ASN][1000 genomes]
rs11614623	0.81[ASN][1000 genomes]
rs2230681	0.80[CHB][hapmap]
rs2596144	0.83[ASN][1000 genomes]
rs2620332	0.83[ASN][1000 genomes]
rs2707056	0.80[CHB][hapmap];0.86[ASN][1000 genomes]
rs2707075	0.86[ASN][1000 genomes]
rs4760099	0.80[CHB][hapmap]
rs7314056	0.80[CHB][hapmap]
rs895959	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1795963	SRSF9	cis	parietal	SCAN
rs1795963	CCDC60	cis	parietal	SCAN
rs1795963	OASL	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122281800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
3	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:122278400-122283600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
6	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:122278600-122283600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:122278800-122283000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:122278800-122283400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:122278800-122283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:122278800-122283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood
13	chr12:122280400-122281800	Strong transcription	HepG2	liver
14	chr12:122281000-122281600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:122281000-122281600	Enhancers	A549	lung
16	chr12:122281000-122281800	Genic enhancers	Liver	Liver
17	chr12:122281000-122281800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr12:122281200-122281600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:122281200-122281600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:122281200-122281600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:122281200-122281600	Flanking Active TSS	K562	blood
22	chr12:122281200-122281800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:122281200-122281800	Enhancers	Placenta	Placenta
24	chr12:122281200-122282000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:122281400-122282000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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