Variant report

Variant	rs74079235
Chromosome Location	chr13:50993894-50993895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50991815..50995325-chr13:50995340..50998331,4	K562	blood:
2	chr13:50986197..50988129-chr13:50991660..50994011,2	K562	blood:
3	chr13:50992353..50994644-chr13:50995445..50997351,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55818564	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56329261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076622	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076624	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076626	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076629	1.00[AMR][1000 genomes]
rs74076632	1.00[AMR][1000 genomes]
rs74076633	1.00[AMR][1000 genomes]
rs74076634	1.00[AMR][1000 genomes]
rs74076635	1.00[AMR][1000 genomes]
rs74076636	1.00[AMR][1000 genomes]
rs74079212	1.00[AMR][1000 genomes]
rs74079227	1.00[AMR][1000 genomes]
rs74079228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079233	1.00[AMR][1000 genomes]
rs74079244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079248	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079254	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription 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	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
2	chr13:50986800-50994800	Weak transcription	K562	blood
3	chr13:50986800-50995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:50987200-50995600	Weak transcription	Fetal Kidney	kidney
5	chr13:50987400-50994000	Weak transcription	HSMMtube	muscle
6	chr13:50987600-50995200	Weak transcription	NH-A	brain
7	chr13:50987800-50994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:50988000-50996200	Weak transcription	Aorta	Aorta
9	chr13:50988000-50996200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:50989600-50994000	Weak transcription	Osteobl	bone
11	chr13:50992000-50994000	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:50992000-50994200	Weak transcription	Left Ventricle	heart
13	chr13:50992000-50994400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:50992200-50994400	Weak transcription	Psoas Muscle	Psoas
15	chr13:50992200-51014600	Weak transcription	HepG2	liver
16	chr13:50992400-50995000	Weak transcription	Hela-S3	cervix
17	chr13:50992400-50996200	Weak transcription	Fetal Thymus	thymus
18	chr13:50992400-50996600	Weak transcription	Thymus	Thymus
19	chr13:50993000-50995400	Enhancers	Fetal Heart	heart
20	chr13:50993200-50994200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:50993400-50994000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr13:50993400-50994000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr13:50993400-50994000	Enhancers	Colon Smooth Muscle	Colon
24	chr13:50993400-50994600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:50993400-50996000	Enhancers	Fetal Stomach	stomach
26	chr13:50993400-50997000	Enhancers	NHDF-Ad	bronchial
27	chr13:50993400-50997800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:50993400-50998600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr13:50993600-50994000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr13:50993600-50994000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:50993600-50994000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:50993600-50994000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr13:50993600-50994000	Enhancers	Brain Germinal Matrix	brain
34	chr13:50993600-50994000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr13:50993600-50994400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:50993600-50994600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr13:50993600-50997000	Enhancers	NHLF	lung
38	chr13:50993800-50994000	Enhancers	Adipose Nuclei	Adipose
39	chr13:50993800-50994000	Enhancers	Brain Angular Gyrus	brain
40	chr13:50993800-50994000	Enhancers	Duodenum Mucosa	Duodenum
41	chr13:50993800-50994200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr13:50993800-50994200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr13:50993800-50994200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr13:50993800-50994200	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr13:50993800-50994400	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr13:50993800-50994400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr13:50993800-50994400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:50993800-50994400	Flanking Active TSS	Fetal Lung	lung
49	chr13:50993800-50994400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr13:50993800-50994400	Enhancers	Rectal Smooth Muscle	rectum

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