Variant report

Variant	rs7319092
Chromosome Location	chr13:40169628-40169629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17060035	1.00[EUR][1000 genomes]
rs57364973	1.00[EUR][1000 genomes]
rs58568755	1.00[EUR][1000 genomes]
rs58584213	1.00[EUR][1000 genomes]
rs59893299	1.00[EUR][1000 genomes]
rs60448326	1.00[EUR][1000 genomes]
rs60950256	1.00[EUR][1000 genomes]
rs6563730	1.00[EUR][1000 genomes]
rs7139911	1.00[EUR][1000 genomes]
rs7982709	1.00[EUR][1000 genomes]
rs7997300	1.00[EUR][1000 genomes]
rs9741239	1.00[EUR][1000 genomes]
rs9741636	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40143200-40170800	Weak transcription	Osteobl	bone
2	chr13:40146000-40171800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:40150000-40172600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:40150400-40170600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:40150600-40171800	Weak transcription	HSMM	muscle
6	chr13:40153000-40171800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:40153200-40171800	Weak transcription	HMEC	breast
8	chr13:40153600-40170600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:40153600-40171800	Weak transcription	Aorta	Aorta
10	chr13:40155600-40170400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr13:40155600-40175800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:40156400-40171000	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:40156400-40171000	Weak transcription	Brain Substantia Nigra	brain
14	chr13:40157000-40172000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:40158400-40171000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:40159200-40170800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:40161200-40175000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:40161600-40172000	Weak transcription	NHEK	skin
19	chr13:40162400-40175000	Weak transcription	Lung	lung
20	chr13:40162400-40175000	Weak transcription	Spleen	Spleen
21	chr13:40163000-40171800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:40163400-40175000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:40165000-40170400	Weak transcription	Fetal Lung	lung
24	chr13:40165000-40171000	Weak transcription	NH-A	brain
25	chr13:40165200-40172000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:40165800-40170600	Weak transcription	Fetal Heart	heart
27	chr13:40165800-40170600	Weak transcription	NHDF-Ad	bronchial
28	chr13:40165800-40171200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:40165800-40171800	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:40166000-40170600	Weak transcription	NHLF	lung
31	chr13:40166000-40171000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:40166000-40171800	Weak transcription	Right Atrium	heart
33	chr13:40166200-40170600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr13:40166400-40173600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:40166400-40175000	Weak transcription	Gastric	stomach
36	chr13:40167400-40171800	Weak transcription	HSMMtube	muscle
37	chr13:40167600-40175800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:40169000-40171400	Weak transcription	HUVEC	blood vessel
39	chr13:40169200-40171600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:40169400-40169800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:40169400-40170000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:40169400-40170000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:40169400-40170000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:40169400-40170000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:40169400-40170000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:40169400-40170000	Strong transcription	Fetal Muscle Leg	muscle
47	chr13:40169400-40170000	Strong transcription	Fetal Stomach	stomach
48	chr13:40169400-40170000	Genic enhancers	Left Ventricle	heart
49	chr13:40169400-40170000	Genic enhancers	Ovary	ovary
50	chr13:40169400-40170000	Genic enhancers	Right Ventricle	heart

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