Variant report

Variant	rs7023609
Chromosome Location	chr9:96447012-96447013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:96445904..96447979-chr9:96722570..96724839,2	MCF-7	breast:
2	chr9:96444762..96447288-chr9:96447833..96449686,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10115715	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs10121780	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs10821205	0.90[ASN][1000 genomes]
rs10992820	0.82[ASN][1000 genomes]
rs10992843	1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs10992873	0.90[ASN][1000 genomes]
rs1132003	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12335855	0.94[ASN][1000 genomes]
rs12341865	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs12348927	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs12349481	0.84[ASN][1000 genomes]
rs12350966	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12351976	1.00[ASN][1000 genomes]
rs12352026	0.87[ASN][1000 genomes]
rs13440078	0.82[ASN][1000 genomes]
rs13440115	0.82[ASN][1000 genomes]
rs2001316	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap]
rs2001995	0.80[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3750364	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs41276198	0.84[ASN][1000 genomes]
rs41276204	0.94[ASN][1000 genomes]
rs4390004	0.90[ASN][1000 genomes]
rs55682342	1.00[ASN][1000 genomes]
rs72747430	0.84[ASN][1000 genomes]
rs72747448	0.84[ASN][1000 genomes]
rs72747451	0.84[ASN][1000 genomes]
rs72747468	0.97[ASN][1000 genomes]
rs72747474	0.97[ASN][1000 genomes]
rs72747481	1.00[ASN][1000 genomes]
rs72747487	1.00[ASN][1000 genomes]
rs7863264	0.90[ASN][1000 genomes]
rs7869847	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs8690	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap]
rs9695734	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][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	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv893587	chr9:96383605-96451784	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7023609	DIRAS2	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96440600-96447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:96440800-96447400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:96441000-96447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:96442400-96447400	Weak transcription	Adipose Nuclei	Adipose
5	chr9:96442400-96447600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:96442600-96447600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr9:96442800-96449200	Weak transcription	Fetal Muscle Leg	muscle
8	chr9:96444200-96449400	Enhancers	Fetal Stomach	stomach
9	chr9:96446600-96448600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:96446800-96448200	Enhancers	HUVEC	blood vessel
11	chr9:96447000-96447200	Enhancers	Primary hematopoietic stem cells	blood
12	chr9:96447000-96447200	Enhancers	Stomach Mucosa	stomach
13	chr9:96447000-96447200	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr9:96447000-96447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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