Variant report

Variant	rs7992766
Chromosome Location	chr13:49905672-49905673
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49903718..49905864-chr13:49908173..49910336,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12585196	0.83[GIH][hapmap]
rs12716689	0.84[JPT][hapmap]
rs13378702	0.83[JPT][hapmap]
rs1555671	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1555672	0.85[GIH][hapmap]
rs2147398	0.83[GIH][hapmap]
rs2407609	0.83[GIH][hapmap]
rs2897709	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139498	0.83[JPT][hapmap]
rs7317025	0.84[JPT][hapmap]
rs7322021	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7335286	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7335760	0.83[JPT][hapmap]
rs7335804	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7335926	0.83[JPT][hapmap]
rs7336018	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7337903	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7985932	0.96[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7987904	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7991646	0.82[JPT][hapmap]
rs7992582	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535201	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9535202	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9535221	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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7992766	CAB39L	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49881800-49906800	Weak transcription	Fetal Brain Male	brain
3	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:49884800-49914200	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
6	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
7	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
8	chr13:49888400-49922200	Weak transcription	Gastric	stomach
9	chr13:49888600-49922200	Weak transcription	Lung	lung
10	chr13:49888800-49908800	Weak transcription	Fetal Intestine Large	intestine
11	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
12	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:49889200-49919400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
15	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:49889600-49914200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr13:49889600-49914400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:49889600-49914400	Weak transcription	Small Intestine	intestine
19	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:49891800-49922000	Weak transcription	Left Ventricle	heart
21	chr13:49894600-49910400	Weak transcription	Adipose Nuclei	Adipose
22	chr13:49895000-49916400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:49895000-49927600	Weak transcription	NHLF	lung
24	chr13:49895200-49910800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:49895200-49914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:49895600-49918000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
29	chr13:49897800-49906000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr13:49897800-49916800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:49899200-49906400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr13:49900800-49906800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:49902400-49906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:49902800-49927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:49903000-49918400	Weak transcription	Psoas Muscle	Psoas
36	chr13:49904400-49919800	Weak transcription	Ovary	ovary
37	chr13:49904400-49922200	Weak transcription	Pancreas	Pancrea
38	chr13:49904400-49929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:49904400-49929400	Weak transcription	Fetal Brain Female	brain
40	chr13:49904600-49906000	Weak transcription	Fetal Heart	heart
41	chr13:49904600-49911000	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:49904600-49922000	Weak transcription	Right Ventricle	heart
43	chr13:49904600-49930800	Weak transcription	Aorta	Aorta
44	chr13:49904800-49914200	Weak transcription	Fetal Stomach	stomach
45	chr13:49905200-49906800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:49905400-49922200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:49905600-49906400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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