Variant report

Variant	rs375880052
Chromosome Location	chr13:95938223-95938224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95935600..95938321-chr13:95941530..95943293,2	K562	blood:
2	chr13:95929149..95932336-chr13:95935085..95938343,4	K562	blood:
3	chr13:95922109..95924473-chr13:95936856..95939759,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv900926	chr13:95927386-95972496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv900927	chr13:95927386-95975185	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv900928	chr13:95929326-95946640	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv456078	chr13:95929888-95972496	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv562770	chr13:95929888-95972496	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv900929	chr13:95930072-95972496	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv900930	chr13:95930072-95975185	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv900931	chr13:95930685-95972496	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1039391	chr13:95931369-96038728	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv471169	chr13:95931992-95972496	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv517610	chr13:95931992-96035883	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1047208	chr13:95935757-96036053	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1044162	chr13:95936858-96032829	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
2	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:95926600-95952400	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:95926800-95948600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:95927200-95941600	Weak transcription	Gastric	stomach
7	chr13:95932400-95939200	Weak transcription	Left Ventricle	heart
8	chr13:95932600-95939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:95933000-95952600	Weak transcription	Primary T cells from cord blood	blood
10	chr13:95933400-95952600	Weak transcription	Fetal Stomach	stomach
11	chr13:95933600-95951000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:95933800-95941800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:95933800-95952400	Weak transcription	HSMM	muscle
14	chr13:95933800-95952400	Weak transcription	NHDF-Ad	bronchial
15	chr13:95934000-95941000	Weak transcription	HUVEC	blood vessel
16	chr13:95934000-95941400	Weak transcription	Fetal Kidney	kidney
17	chr13:95934000-95941600	Weak transcription	A549	lung
18	chr13:95934000-95949600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:95934000-95951600	Weak transcription	Osteobl	bone
20	chr13:95934200-95941600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:95934600-95943600	Weak transcription	NHLF	lung
22	chr13:95935400-95949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:95937400-95938400	Enhancers	Stomach Smooth Muscle	stomach
24	chr13:95937600-95938400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:95937600-95939000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr13:95937600-95939000	Enhancers	Primary B cells from peripheral blood	blood
27	chr13:95937600-95939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:95937600-95939000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr13:95937600-95939400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr13:95937600-95939400	Enhancers	Fetal Intestine Large	intestine
31	chr13:95937600-95948600	Weak transcription	Lung	lung
32	chr13:95937800-95938400	Enhancers	Colon Smooth Muscle	Colon
33	chr13:95937800-95938400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr13:95937800-95938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:95937800-95938800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr13:95937800-95939000	Enhancers	Fetal Intestine Small	intestine
37	chr13:95937800-95939000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr13:95938000-95938400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:95938000-95938400	Enhancers	Adipose Nuclei	Adipose
40	chr13:95938000-95938400	Enhancers	Psoas Muscle	Psoas
41	chr13:95938000-95938400	Enhancers	Rectal Smooth Muscle	rectum
42	chr13:95938000-95938400	Enhancers	Right Atrium	heart
43	chr13:95938000-95938400	Flanking Active TSS	GM12878-XiMat	blood
44	chr13:95938000-95938800	Enhancers	Colonic Mucosa	Colon
45	chr13:95938000-95938800	Enhancers	Duodenum Mucosa	Duodenum
46	chr13:95938200-95938400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:95938200-95938600	Active TSS	K562	blood
48	chr13:95938200-95942000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr13:95938200-95952600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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