Variant report

Variant	rs9596615
Chromosome Location	chr13:52495201-52495202
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52494195..52496775-chr13:52571479..52573811,2	MCF-7	breast:
2	chr13:52494041..52496295-chr13:52497772..52499467,2	MCF-7	breast:
3	chr13:52484875..52491698-chr13:52491732..52499779,14	MCF-7	breast:
4	chr13:52486992..52489143-chr13:52495004..52497139,2	K562	blood:
5	chr13:52480324..52481830-chr13:52493649..52496094,2	MCF-7	breast:
6	chr13:52494744..52497994-chr13:52498651..52501813,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12857062	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4941715	0.86[ASN][1000 genomes]
rs4943040	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596613	0.89[ASN][1000 genomes]
rs967597	0.89[ASN][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	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv455888	chr13:52491193-52570728	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv561649	chr13:52491193-52570728	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52476400-52496600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr13:52480200-52497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:52481200-52496400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:52481200-52496600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:52481600-52502000	Weak transcription	Right Atrium	heart
6	chr13:52481800-52506000	Weak transcription	Ovary	ovary
7	chr13:52486400-52500200	Weak transcription	Fetal Kidney	kidney
8	chr13:52486400-52523400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:52486800-52502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:52487000-52507800	Weak transcription	Pancreas	Pancrea
11	chr13:52487400-52496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:52488000-52507800	Weak transcription	Brain Anterior Caudate	brain
13	chr13:52488000-52508200	Weak transcription	Brain Angular Gyrus	brain
14	chr13:52488000-52508200	Weak transcription	Brain Hippocampus Middle	brain
15	chr13:52488200-52505800	Weak transcription	Brain Germinal Matrix	brain
16	chr13:52488200-52508000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:52488200-52542200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr13:52488400-52496600	Weak transcription	Fetal Brain Female	brain
19	chr13:52488400-52496800	Weak transcription	Thymus	Thymus
20	chr13:52488600-52496400	Weak transcription	Fetal Stomach	stomach
21	chr13:52489000-52496800	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:52489600-52508400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:52490000-52509400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:52491200-52499800	Weak transcription	Fetal Heart	heart
25	chr13:52491200-52500200	Weak transcription	Lung	lung
26	chr13:52491600-52497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:52492000-52508400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr13:52492400-52496600	Weak transcription	Liver	Liver
29	chr13:52492400-52497000	Weak transcription	HepG2	liver
30	chr13:52492600-52539600	Weak transcription	Fetal Brain Male	brain
31	chr13:52493800-52496000	Enhancers	K562	blood
32	chr13:52493800-52496600	Enhancers	Placenta	Placenta
33	chr13:52494200-52496600	Weak transcription	Fetal Intestine Large	intestine
34	chr13:52494400-52558000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr13:52494600-52500000	Weak transcription	Gastric	stomach
36	chr13:52494800-52496800	Weak transcription	Aorta	Aorta
37	chr13:52494800-52497000	Weak transcription	Right Ventricle	heart
38	chr13:52494800-52527000	Weak transcription	Fetal Lung	lung
39	chr13:52495000-52500800	Strong transcription	Fetal Intestine Small	intestine
40	chr13:52495200-52497000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:52495200-52497000	Weak transcription	Adipose Nuclei	Adipose

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