Variant report

Variant	rs10507170
Chromosome Location	chr12:104245046-104245047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104239377..104242138-chr12:104243649..104245616,3	K562	blood:
2	chr12:104234058..104237710-chr12:104241927..104245166,3	MCF-7	breast:
3	chr12:104232946..104237794-chr12:104239535..104249085,16	K562	blood:
4	chr12:104244166..104246985-chr12:104247469..104250168,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17797090	1.00[ASN][1000 genomes]
rs60603839	1.00[ASN][1000 genomes]
rs60729918	1.00[ASN][1000 genomes]
rs61002956	1.00[ASN][1000 genomes]
rs73386129	1.00[ASN][1000 genomes]
rs73386140	1.00[ASN][1000 genomes]
rs73386143	1.00[ASN][1000 genomes]
rs73386170	1.00[ASN][1000 genomes]
rs73386176	1.00[ASN][1000 genomes]
rs73388209	1.00[ASN][1000 genomes]
rs73388220	1.00[ASN][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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
2	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:104236000-104253600	Weak transcription	Gastric	stomach
4	chr12:104236200-104246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:104236400-104246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:104236600-104248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:104238200-104246400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:104240000-104247600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:104240000-104254800	Enhancers	Rectal Smooth Muscle	rectum
10	chr12:104240800-104245800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:104241800-104246400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:104242200-104246400	Weak transcription	Fetal Lung	lung
13	chr12:104242200-104248400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:104242400-104246400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104242600-104246800	Enhancers	HMEC	breast
16	chr12:104242800-104246200	Weak transcription	Pancreas	Pancrea
17	chr12:104242800-104247000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:104243000-104246000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104243400-104245600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:104243400-104246000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:104243600-104246400	Weak transcription	Aorta	Aorta
22	chr12:104243800-104245600	Weak transcription	Fetal Stomach	stomach
23	chr12:104243800-104251400	Enhancers	Colon Smooth Muscle	Colon
24	chr12:104244400-104245800	Enhancers	Liver	Liver
25	chr12:104244400-104246200	Enhancers	NH-A	brain
26	chr12:104244400-104246800	Enhancers	Brain Anterior Caudate	brain
27	chr12:104244400-104246800	Enhancers	Osteobl	bone
28	chr12:104244600-104245200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:104244600-104245600	Weak transcription	HSMM	muscle
30	chr12:104244600-104246200	Enhancers	Brain Substantia Nigra	brain
31	chr12:104244600-104247000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:104244800-104245200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:104244800-104245600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:104244800-104246000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:104244800-104246600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:104244800-104246800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:104245000-104245200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:104245000-104245200	Enhancers	Brain Angular Gyrus	brain
39	chr12:104245000-104245200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:104245000-104245200	Enhancers	NHEK	skin
41	chr12:104245000-104245600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:104245000-104246800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:104245000-104246800	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:104245000-104247000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr12:104245000-104250800	Enhancers	HepG2	liver

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