Variant report

Variant	rs148607175
Chromosome Location	chr13:50598180-50598181
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	chr13:50590995..50593479-chr13:50595966..50598472,2	K562	blood:
2	chr13:50597577..50599094-chr13:50600225..50603029,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50574000-50599600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:50578600-50604200	Strong transcription	Dnd41	blood
3	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
5	chr13:50581800-50602800	Strong transcription	Fetal Thymus	thymus
6	chr13:50582200-50603600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr13:50584400-50599800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:50586800-50601800	Weak transcription	Gastric	stomach
9	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:50587000-50598200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:50587000-50603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
13	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
14	chr13:50587200-50617000	Weak transcription	HepG2	liver
15	chr13:50587400-50607600	Weak transcription	Psoas Muscle	Psoas
16	chr13:50588000-50645600	Weak transcription	Ovary	ovary
17	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:50590000-50603000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:50590000-50624200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:50590200-50598600	Weak transcription	Right Atrium	heart
21	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
22	chr13:50590400-50599000	Weak transcription	Brain Angular Gyrus	brain
23	chr13:50590400-50604400	Weak transcription	NHEK	skin
24	chr13:50590800-50598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:50590800-50604600	Weak transcription	K562	blood
26	chr13:50591000-50599600	Weak transcription	Aorta	Aorta
27	chr13:50591000-50600800	Weak transcription	Colon Smooth Muscle	Colon
28	chr13:50591000-50603200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:50591000-50609600	Weak transcription	Brain Substantia Nigra	brain
30	chr13:50591200-50600600	Weak transcription	GM12878-XiMat	blood
31	chr13:50591400-50599400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:50591600-50598600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:50592000-50602200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:50592400-50598400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:50592800-50598200	Strong transcription	Fetal Muscle Leg	muscle
36	chr13:50592800-50598600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:50592800-50598800	Strong transcription	Fetal Intestine Small	intestine
38	chr13:50592800-50599800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:50592800-50599800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:50593000-50599000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr13:50593000-50618600	Weak transcription	HMEC	breast
42	chr13:50593200-50598800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr13:50593200-50598800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr13:50593200-50598800	Strong transcription	Fetal Stomach	stomach
45	chr13:50593200-50599600	Strong transcription	Osteobl	bone
46	chr13:50593200-50600000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:50593200-50604000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr13:50593400-50599200	Strong transcription	Liver	Liver
49	chr13:50593400-50599400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:50593800-50599200	Strong transcription	Primary B cells from cord blood	blood

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