Variant report

Variant	rs117331287
Chromosome Location	chr13:52347974-52347975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52025577..52029967-chr13:52343918..52348772,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction
ENSG00000224892	Chromatin interaction
ENSG00000236778	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	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
9	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
10	esv1840020	chr13:52345838-52388765	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	esv3520141	chr13:52346551-52351849	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv21266	chr13:52347717-52350532	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv561646	chr13:52347756-52350294	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52330600-52355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:52335200-52348000	Weak transcription	Fetal Brain Female	brain
3	chr13:52339400-52349600	Weak transcription	Placenta	Placenta
4	chr13:52339400-52352000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr13:52339400-52356200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr13:52339400-52357400	Weak transcription	Colonic Mucosa	Colon
7	chr13:52339600-52356800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:52339600-52361400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:52339800-52359800	Weak transcription	Colon Smooth Muscle	Colon
11	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr13:52340400-52348200	Strong transcription	Fetal Stomach	stomach
14	chr13:52340800-52352200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:52341400-52354600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:52341400-52361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:52341600-52352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:52341600-52356400	Weak transcription	Brain Germinal Matrix	brain
19	chr13:52342400-52348200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:52342600-52356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:52342800-52355800	Weak transcription	Primary B cells from cord blood	blood
22	chr13:52343000-52351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:52343200-52350000	Weak transcription	Fetal Lung	lung
24	chr13:52343200-52350400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:52343400-52350400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:52343400-52352000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:52343800-52349400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr13:52343800-52360200	Weak transcription	Small Intestine	intestine
29	chr13:52344200-52348200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:52344200-52351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:52344200-52352000	Weak transcription	HSMMtube	muscle
32	chr13:52344200-52352600	Weak transcription	Esophagus	oesophagus
33	chr13:52344200-52357800	Weak transcription	HSMM	muscle
34	chr13:52344400-52348200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr13:52344400-52348400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr13:52344600-52355400	Weak transcription	Spleen	Spleen
37	chr13:52344600-52371800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr13:52344800-52355600	Weak transcription	Right Ventricle	heart
39	chr13:52344800-52359600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr13:52344800-52360000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:52344800-52360000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:52345000-52348200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr13:52345000-52348200	Strong transcription	Liver	Liver
44	chr13:52345000-52351200	Weak transcription	Adipose Nuclei	Adipose
45	chr13:52345200-52348000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr13:52345200-52348000	Strong transcription	Fetal Intestine Large	intestine
47	chr13:52345200-52352200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr13:52345400-52348000	Strong transcription	Fetal Intestine Small	intestine
49	chr13:52345400-52355600	Weak transcription	HepG2	liver
50	chr13:52345400-52363400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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