Variant report

Variant	rs184592062
Chromosome Location	chr13:53031552-53031553
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53031068..53033072-chr13:53251817..53253830,2	K562	blood:
2	chr13:53028631..53030845-chr13:53030982..53032693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136108	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3434605	chr13:52999509-53034851	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
8	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv900086	chr13:53030565-53208030	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53028400-53031600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:53028600-53033200	Active TSS	GM12878-XiMat	blood
3	chr13:53030200-53050800	Weak transcription	Gastric	stomach
4	chr13:53030200-53052600	Weak transcription	Spleen	Spleen
5	chr13:53030200-53053800	Weak transcription	Small Intestine	intestine
6	chr13:53030400-53031600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:53030400-53031600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr13:53030400-53031600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:53030400-53034200	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr13:53030400-53035200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:53030400-53035400	Weak transcription	Left Ventricle	heart
12	chr13:53030400-53035600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:53030400-53037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:53030400-53039200	Weak transcription	Psoas Muscle	Psoas
15	chr13:53030400-53048200	Weak transcription	Pancreas	Pancrea
16	chr13:53030400-53048400	Weak transcription	Ovary	ovary
17	chr13:53030400-53048600	Weak transcription	Aorta	Aorta
18	chr13:53030400-53050000	Weak transcription	Esophagus	oesophagus
19	chr13:53030400-53055800	Weak transcription	Lung	lung
20	chr13:53030600-53031800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:53030600-53032000	Transcr. at gene 5' and 3'	HSMM	muscle
22	chr13:53030600-53033200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr13:53030600-53035200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:53030600-53035400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:53030600-53035400	Weak transcription	Placenta	Placenta
26	chr13:53030600-53037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:53030600-53040800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr13:53030600-53044400	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:53030600-53044600	Weak transcription	Colonic Mucosa	Colon
30	chr13:53030600-53049600	Weak transcription	Brain Hippocampus Middle	brain
31	chr13:53030600-53050200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr13:53030600-53050600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:53030600-53050800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr13:53030600-53050800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:53030600-53051400	Weak transcription	Fetal Brain Male	brain
36	chr13:53030600-53052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:53030600-53052800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr13:53030800-53031600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
39	chr13:53030800-53031600	Genic enhancers	Fetal Lung	lung
40	chr13:53030800-53031800	Genic enhancers	Primary hematopoietic stem cells	blood
41	chr13:53030800-53033200	Weak transcription	HSMMtube	muscle
42	chr13:53030800-53033400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:53030800-53034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:53030800-53035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr13:53030800-53035000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:53030800-53035000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr13:53030800-53035200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:53030800-53035200	Weak transcription	Fetal Kidney	kidney
49	chr13:53030800-53035600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:53030800-53036000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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