Variant report

Variant	rs9687148
Chromosome Location	chr5:179316154-179316155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179315043..179317864-chr5:179318589..179320436,2	MCF-7	breast:
2	chr5:179312827..179319105-chr5:179330918..179335028,6	MCF-7	breast:
3	chr5:179306460..179309457-chr5:179314767..179316995,2	MCF-7	breast:
4	chr5:179312285..179314343-chr5:179315369..179317861,2	K562	blood:

Variant related genes	Relation type
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73338301	1.00[EUR][1000 genomes]
rs73340208	1.00[EUR][1000 genomes]
rs73340210	1.00[EUR][1000 genomes]
rs7717213	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
3	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
4	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
6	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
7	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179289600-179328000	Strong transcription	Adipose Nuclei	Adipose
3	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:179308400-179318600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:179309200-179327200	Strong transcription	Brain Angular Gyrus	brain
6	chr5:179309800-179326400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:179310200-179327400	Strong transcription	Brain Inferior Temporal Lobe	brain
8	chr5:179310400-179323200	Strong transcription	Gastric	stomach
9	chr5:179310400-179326800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:179310400-179332000	Strong transcription	Fetal Intestine Large	intestine
11	chr5:179310600-179323000	Strong transcription	Colonic Mucosa	Colon
12	chr5:179310600-179323200	Strong transcription	Brain Anterior Caudate	brain
13	chr5:179310600-179326800	Strong transcription	Brain Substantia Nigra	brain
14	chr5:179310600-179327400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr5:179310800-179322800	Strong transcription	Right Ventricle	heart
16	chr5:179310800-179323200	Strong transcription	Ovary	ovary
17	chr5:179310800-179323200	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr5:179310800-179327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:179310800-179331400	Strong transcription	Primary T cells from cord blood	blood
20	chr5:179311000-179317600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:179311000-179317600	Weak transcription	Small Intestine	intestine
22	chr5:179311000-179321800	Strong transcription	Liver	Liver
23	chr5:179311000-179325000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:179311000-179326800	Strong transcription	Brain Cingulate Gyrus	brain
25	chr5:179311000-179326800	Strong transcription	Brain Hippocampus Middle	brain
26	chr5:179311000-179328200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:179311000-179332000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr5:179311000-179332600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:179311200-179328200	Strong transcription	Osteobl	bone
30	chr5:179311200-179332000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:179311200-179332000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:179311400-179317800	Strong transcription	Lung	lung
33	chr5:179311400-179322800	Strong transcription	Aorta	Aorta
34	chr5:179311400-179323000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:179311400-179323000	Strong transcription	Pancreas	Pancrea
36	chr5:179311400-179323400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:179311400-179323600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:179311400-179327400	Strong transcription	Fetal Thymus	thymus
39	chr5:179311400-179332000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr5:179311400-179332400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:179311600-179322800	Strong transcription	Thymus	Thymus
43	chr5:179311600-179323200	Strong transcription	Brain Germinal Matrix	brain
44	chr5:179311600-179332000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:179311600-179332000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:179311600-179332200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:179311600-179332200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:179311800-179320000	Strong transcription	Spleen	Spleen
49	chr5:179311800-179321800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr5:179311800-179323200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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