Variant report

Variant	rs10967494
Chromosome Location	chr9:26723522-26723523
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	chr9:26723206..26723920-chr9:26975181..26975897,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10812450	0.95[ASN][1000 genomes]
rs10967486	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10967487	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10967491	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10967507	0.82[TSI][hapmap]
rs10967509	1.00[JPT][hapmap]
rs10967511	0.84[EUR][1000 genomes]
rs12236694	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1336332	1.00[ASW][hapmap]
rs7868610	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995049	chr9:26162115-26760535	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv892854	chr9:26326100-26749094	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv892858	chr9:26609613-26783463	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026827	chr9:26693515-26904699	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv892860	chr9:26704385-26789940	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv892861	chr9:26707333-26789940	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466332	chr9:26709294-26783463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv613941	chr9:26709294-26783463	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv613942	chr9:26722736-26789975	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10967494	MOBKL2B	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26720600-26726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:26722200-26723600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:26722200-26723800	Enhancers	Duodenum Mucosa	Duodenum
4	chr9:26722800-26723600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:26723000-26723800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr9:26723000-26723800	Active TSS	Fetal Brain Female	brain
7	chr9:26723000-26724000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr9:26723200-26723600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:26723200-26723600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr9:26723200-26723600	Active TSS	Fetal Kidney	kidney
11	chr9:26723200-26723800	Active TSS	Brain Anterior Caudate	brain
12	chr9:26723200-26723800	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr9:26723400-26723600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:26723400-26723600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr9:26723400-26723600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:26723400-26723800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr9:26723400-26723800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:26723400-26723800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:26723400-26723800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:26723400-26723800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr9:26723400-26723800	Active TSS	Brain Germinal Matrix	brain
22	chr9:26723400-26723800	Flanking Bivalent TSS/Enh	A549	lung
23	chr9:26723400-26724000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:26723400-26724000	Enhancers	HUES64 Cell Line	embryonic stem cell

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