Variant report

Variant	rs10123459
Chromosome Location	chr9:79302857-79302858
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	chr9:79300396..79301994-chr9:79302706..79305324,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10116826	1.00[EUR][1000 genomes]
rs10117138	1.00[EUR][1000 genomes]
rs10119188	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10120866	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10120887	1.00[EUR][1000 genomes]
rs10123386	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10125699	1.00[EUR][1000 genomes]
rs11144936	1.00[EUR][1000 genomes]
rs12003549	1.00[EUR][1000 genomes]
rs12340744	1.00[EUR][1000 genomes]
rs12343728	1.00[EUR][1000 genomes]
rs12349066	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12352019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28803171	1.00[EUR][1000 genomes]
rs4606124	1.00[EUR][1000 genomes]
rs73462305	1.00[EUR][1000 genomes]
rs7874984	1.00[EUR][1000 genomes]
rs9314852	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79266400-79306800	Weak transcription	Fetal Stomach	stomach
2	chr9:79270400-79303000	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:79278200-79303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr9:79283000-79303000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr9:79290400-79306000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:79295400-79303000	Weak transcription	Brain Angular Gyrus	brain
7	chr9:79296000-79303000	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:79296800-79304800	Weak transcription	Fetal Thymus	thymus
9	chr9:79298200-79303600	Weak transcription	Small Intestine	intestine
10	chr9:79298800-79303200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:79299400-79303400	Weak transcription	Brain Anterior Caudate	brain
12	chr9:79299400-79303400	Weak transcription	Brain Substantia Nigra	brain
13	chr9:79300400-79332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:79300800-79304200	Enhancers	NHDF-Ad	bronchial
15	chr9:79301600-79305000	Enhancers	Stomach Mucosa	stomach
16	chr9:79302000-79303000	Enhancers	Osteobl	bone
17	chr9:79302000-79303400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:79302000-79303600	Enhancers	Aorta	Aorta
19	chr9:79302000-79303800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:79302000-79304200	Enhancers	HMEC	breast
21	chr9:79302000-79304200	Enhancers	HSMM	muscle
22	chr9:79302200-79304200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:79302200-79304200	Enhancers	HUVEC	blood vessel
24	chr9:79302400-79303000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:79302400-79303000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:79302400-79303200	Enhancers	K562	blood
27	chr9:79302400-79303600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:79302400-79303600	Enhancers	NHLF	lung
29	chr9:79302400-79303800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:79302400-79304000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:79302400-79304200	Enhancers	HSMMtube	muscle
32	chr9:79302600-79303000	Flanking Active TSS	NH-A	brain
33	chr9:79302600-79303400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:79302600-79303600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:79302600-79304200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr9:79302600-79304400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:79302600-79305600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr9:79302600-79306600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr9:79302600-79306800	Enhancers	Fetal Intestine Large	intestine
40	chr9:79302600-79306800	Enhancers	Fetal Intestine Small	intestine
41	chr9:79302800-79303200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:79302800-79303200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:79302800-79303200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:79302800-79303200	Enhancers	NHEK	skin
45	chr9:79302800-79303400	Genic enhancers	Stomach Smooth Muscle	stomach
46	chr9:79302800-79306600	Weak transcription	Adipose Nuclei	Adipose

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