Variant report

Variant	rs10248165
Chromosome Location	chr7:39436094-39436095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39432032..39434536-chr7:39435628..39438240,2	K562	blood:
2	chr7:39435823..39437973-chr7:39441882..39444304,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10256992	0.83[GIH][hapmap]
rs10269183	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10951603	0.83[ASW][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap];0.89[ASN][1000 genomes]
rs11971775	0.88[ASN][1000 genomes]
rs12701728	0.82[JPT][hapmap]
rs12701729	0.84[JPT][hapmap]
rs1558159	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs1990243	0.82[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2024100	0.83[GIH][hapmap]
rs2074934	0.95[GIH][hapmap];0.80[EUR][1000 genomes]
rs2190893	0.83[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs2237400	0.91[GIH][hapmap]
rs2237411	0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2299135	0.82[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs2299137	0.81[ASN][1000 genomes]
rs2299141	0.86[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap]
rs2329388	0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap]
rs2329390	0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap]
rs2329391	0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap]
rs2876835	0.86[ASN][1000 genomes]
rs60586729	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6462916	0.86[JPT][hapmap]
rs6962623	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs740509	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs887013	0.89[ASN][1000 genomes]
rs917401	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv981456	chr7:39431071-39454006	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10248165	CDK13	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39432400-39439600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:39432400-39439800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:39433200-39439400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:39434000-39438800	Weak transcription	H9 Cell Line	embryonic stem cell

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