Variant report

Variant	rs9596085
Chromosome Location	chr13:49923974-49923975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1198500	1.00[ASN][1000 genomes]
rs1198501	1.00[ASN][1000 genomes]
rs1198502	1.00[ASN][1000 genomes]
rs1198503	0.83[ASN][1000 genomes]
rs12323025	0.88[EUR][1000 genomes]
rs4942819	0.89[EUR][1000 genomes]
rs4942824	0.88[EUR][1000 genomes]
rs4942825	0.88[EUR][1000 genomes]
rs56232559	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320297	0.89[EUR][1000 genomes]
rs7998999	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8000300	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9596084	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596086	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1037	chr13:49919578-49926725	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
4	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
6	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
7	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
9	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:49895000-49927600	Weak transcription	NHLF	lung
12	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
14	chr13:49902800-49927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:49904400-49929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:49904400-49929400	Weak transcription	Fetal Brain Female	brain
17	chr13:49904600-49930800	Weak transcription	Aorta	Aorta
18	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:49912800-49924200	Weak transcription	Fetal Muscle Leg	muscle
20	chr13:49913200-49932600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:49914000-49925200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr13:49914800-49925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:49915000-49924400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:49915000-49924400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:49915000-49929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:49918000-49925600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr13:49918000-49930000	Weak transcription	Osteobl	bone
29	chr13:49918200-49925200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr13:49918200-49925600	Weak transcription	HSMM	muscle
31	chr13:49918200-49928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:49918200-49928800	Weak transcription	Adipose Nuclei	Adipose
33	chr13:49921800-49924400	Weak transcription	Fetal Heart	heart
34	chr13:49922200-49937600	Weak transcription	Fetal Brain Male	brain
35	chr13:49922200-49937600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:49922400-49931800	Weak transcription	Left Ventricle	heart
37	chr13:49922400-49940800	Weak transcription	Lung	lung
38	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
40	chr13:49922600-49924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:49922600-49924600	Strong transcription	Colon Smooth Muscle	Colon
42	chr13:49922800-49951400	Weak transcription	Gastric	stomach
43	chr13:49923000-49925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:49923000-49926400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr13:49923000-49935000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr13:49923200-49928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:49923200-49929200	Weak transcription	Ovary	ovary
48	chr13:49923200-49930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:49923200-49934800	Weak transcription	Fetal Stomach	stomach
50	chr13:49923200-49935000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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