Variant report

Variant	rs60176388
Chromosome Location	chr13:50666133-50666134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50664605..50666454-chr13:50699852..50701573,2	MCF-7	breast:
2	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
3	chr13:50665778..50667846-chr13:50675937..50677538,2	K562	blood:
4	chr13:50646342..50650617-chr13:50662203..50666443,4	K562	blood:
5	chr13:50664603..50667692-chr13:50667807..50671409,5	K562	blood:
6	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:
7	chr13:50664616..50667057-chr13:51038021..51040614,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2066581	0.84[AFR][1000 genomes]
rs2066604	1.00[ASN][1000 genomes]
rs9740075	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription 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	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50657200-50673400	Weak transcription	Pancreas	Pancrea
2	chr13:50657400-50673400	Weak transcription	Left Ventricle	heart
3	chr13:50657400-50673400	Weak transcription	HSMM	muscle
4	chr13:50658000-50673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
6	chr13:50658400-50673400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr13:50658600-50673400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:50659600-50672600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:50659600-50673000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:50659600-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr13:50659800-50666200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:50659800-50666200	Weak transcription	Adipose Nuclei	Adipose
13	chr13:50659800-50666600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr13:50659800-50668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:50659800-50669000	Weak transcription	NHDF-Ad	bronchial
16	chr13:50659800-50670800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:50659800-50671200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:50659800-50671600	Weak transcription	HMEC	breast
19	chr13:50659800-50672200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:50659800-50672400	Weak transcription	A549	lung
21	chr13:50659800-50672600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:50659800-50672600	Weak transcription	Fetal Lung	lung
23	chr13:50659800-50672600	Weak transcription	Osteobl	bone
24	chr13:50659800-50673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:50659800-50673400	Weak transcription	NH-A	brain
26	chr13:50659800-50681600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
28	chr13:50660200-50673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:50661200-50666200	Weak transcription	Thymus	Thymus
30	chr13:50661200-50668600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:50661400-50670400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:50661400-50672200	Weak transcription	Fetal Intestine Large	intestine
33	chr13:50661800-50671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:50662800-50671800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:50663200-50666800	Enhancers	Liver	Liver
36	chr13:50663600-50666200	Weak transcription	Fetal Thymus	thymus
37	chr13:50663600-50666400	Enhancers	HepG2	liver
38	chr13:50664400-50666400	Enhancers	K562	blood
39	chr13:50664800-50666400	Genic enhancers	Dnd41	blood
40	chr13:50664800-50667000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:50664800-50668800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr13:50665000-50666200	Enhancers	Primary T cells from cord blood	blood
43	chr13:50665000-50666200	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr13:50665000-50666400	Enhancers	Brain Hippocampus Middle	brain
45	chr13:50665000-50666800	Enhancers	Primary B cells from peripheral blood	blood
46	chr13:50665000-50667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:50665000-50667800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:50665200-50666600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr13:50665200-50667600	Enhancers	Fetal Heart	heart
50	chr13:50665200-50673400	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links