Variant report

Variant	rs17137937
Chromosome Location	chr5:114849822-114849823
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	chr5:114841180..114843374-chr5:114848078..114849908,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1363550	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1422641	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1422642	0.94[ASN][1000 genomes]
rs1422643	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1422644	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1592942	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1592943	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17138030	1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs185379	0.90[ASN][1000 genomes]
rs1895283	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs194398	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.90[ASN][1000 genomes]
rs1978441	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MKK][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2052504	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2052505	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2288384	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2431600	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2546483	0.92[JPT][hapmap];0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs256946	0.88[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs256958	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs256960	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs256961	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs256973	0.91[ASN][1000 genomes]
rs256974	0.90[ASN][1000 genomes]
rs256975	0.85[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs256979	0.90[ASN][1000 genomes]
rs256981	0.91[ASN][1000 genomes]
rs256982	0.91[ASN][1000 genomes]
rs256983	0.91[ASN][1000 genomes]
rs256985	0.90[ASN][1000 genomes]
rs256992	0.91[ASN][1000 genomes]
rs2597	0.85[ASN][1000 genomes]
rs2617441	0.98[ASN][1000 genomes]
rs4920867	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4920869	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57010629	0.86[AMR][1000 genomes]
rs60640600	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73253005	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9326965	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9968571	0.80[EUR][1000 genomes]

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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17137937	CDO1	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114843200-114854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114843200-114858800	Weak transcription	Left Ventricle	heart
3	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114844000-114859000	Weak transcription	HSMMtube	muscle
5	chr5:114844200-114853200	Weak transcription	NHDF-Ad	bronchial
6	chr5:114844200-114854200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:114844200-114855000	Weak transcription	HSMM	muscle
8	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:114844200-114859800	Weak transcription	Osteobl	bone
11	chr5:114845400-114853400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
14	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:114846600-114858200	Weak transcription	A549	lung
16	chr5:114846600-114860000	Weak transcription	Ovary	ovary
17	chr5:114846800-114854800	Weak transcription	Dnd41	blood
18	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
19	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
22	chr5:114848000-114858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
24	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
25	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
26	chr5:114848600-114857200	Weak transcription	GM12878-XiMat	blood
27	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
28	chr5:114849000-114850000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:114849000-114858600	Weak transcription	Primary B cells from cord blood	blood
30	chr5:114849200-114850400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:114849200-114858200	Weak transcription	K562	blood
32	chr5:114849200-114859200	Weak transcription	HepG2	liver
33	chr5:114849400-114856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:114849400-114858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:114849600-114850400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:114849800-114850800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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