Variant report

Variant	rs9800255
Chromosome Location	chr5:36572504-36572505
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36571964..36573709-chr5:36575668..36577774,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10061650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10076624	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10805623	0.92[ASN][1000 genomes]
rs1366636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2115521	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2562554	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562559	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2562568	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2731901	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2731906	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731907	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2731909	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2731920	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9800255	C9	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36569800-36573200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:36570000-36572800	Weak transcription	HMEC	breast
3	chr5:36570000-36573200	Weak transcription	NHEK	skin
4	chr5:36570000-36575600	Weak transcription	Aorta	Aorta
5	chr5:36570200-36574000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:36570800-36573200	Weak transcription	NHDF-Ad	bronchial
7	chr5:36570800-36573400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:36571000-36573000	Weak transcription	NH-A	brain
9	chr5:36571000-36575200	Weak transcription	Fetal Heart	heart
10	chr5:36571200-36573200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:36571200-36573200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:36571200-36573400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:36571200-36584000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:36571200-36584000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:36571400-36572600	Weak transcription	Osteobl	bone
16	chr5:36571400-36572800	Weak transcription	HSMM	muscle
17	chr5:36571600-36577200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:36571800-36575200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:36572200-36575200	Weak transcription	Left Ventricle	heart
20	chr5:36572200-36575600	Weak transcription	Ovary	ovary
21	chr5:36572400-36572800	Weak transcription	Muscle Satellite Cultured Cells	--

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