Variant report

Variant	rs9524000
Chromosome Location	chr13:93945537-93945538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93937164..93938898-chr13:93943990..93946779,2	K562	blood:
2	chr13:93066301..93067843-chr13:93942958..93945920,2	K562	blood:
3	chr13:93944923..93946979-chr13:93954712..93956821,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10507998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1323997	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs1328373	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs16948616	0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs17267544	0.94[CHB][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs17267585	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2025948	0.80[ASN][1000 genomes]
rs2057525	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs4142602	0.83[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs72635668	0.94[ASN][1000 genomes]
rs72635674	0.92[ASN][1000 genomes]
rs9301866	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9516201	0.92[ASN][1000 genomes]
rs9516203	0.94[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9516204	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9516205	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9516208	1.00[ASN][1000 genomes]
rs9523984	0.95[ASN][1000 genomes]
rs9523985	0.95[ASN][1000 genomes]
rs9523992	0.95[ASN][1000 genomes]
rs9523993	0.94[CHB][hapmap];0.92[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9523994	0.93[CHB][hapmap];0.91[JPT][hapmap]
rs9523995	0.94[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs9523996	0.83[CHB][hapmap]
rs9524001	0.83[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs9561296	0.94[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9561297	0.94[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9561300	0.83[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs9561305	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs9561306	0.83[CHB][hapmap];0.82[JPT][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	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2751156	chr13:93912999-93988638	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9524000	DSCR9	trans	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93929000-93953800	Weak transcription	Right Atrium	heart
2	chr13:93932400-93952200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:93934800-93945800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:93938800-93946000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:93939000-93945800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:93939200-93945600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:93941600-93945600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:93942800-93955400	Weak transcription	A549	lung
9	chr13:93943400-93947200	Weak transcription	HSMM	muscle
10	chr13:93943600-93962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:93943800-93952400	Weak transcription	Fetal Intestine Small	intestine
12	chr13:93945400-93946200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:93945400-93947600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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