Variant report

Variant	nsv976115
Chromosome Location	chr13:52480923-52484571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:52480974..52481796-chr13:52493420..52494449,6	MCF-7	breast:
2	chr13:52421639..52423143-chr13:52479178..52481096,2	MCF-7	breast:
3	chr13:52479917..52482346-chr13:52733266..52734768,2	MCF-7	breast:
4	chr13:52478878..52481837-chr13:52486558..52489316,5	MCF-7	breast:
5	chr13:52480324..52481830-chr13:52493649..52496094,2	MCF-7	breast:
6	chr13:52474695..52476604-chr13:52478889..52481158,2	MCF-7	breast:
7	chr13:52473231..52476080-chr13:52478629..52481911,3	K562	blood:
8	chr13:52473231..52476356-chr13:52478629..52481911,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000136098	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549444640	chr13:52480959-52480960	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs190944905	chr13:52480982-52480983	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140845434	chr13:52480998-52480999	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529576447	chr13:52481018-52481019	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74085844	chr13:52481118-52481119	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372553647	chr13:52481196-52481197	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145783297	chr13:52481214-52481215	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183515618	chr13:52481222-52481223	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574666869	chr13:52481240-52481241	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537269005	chr13:52481261-52481262	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557483582	chr13:52481294-52481295	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201195528	chr13:52481304-52481305	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577426814	chr13:52481317-52481318	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148957762	chr13:52481406-52481407	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374642574	chr13:52481411-52481412	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559720941	chr13:52481415-52481416	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368159465	chr13:52481495-52481496	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186750725	chr13:52481518-52481519	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191597454	chr13:52481545-52481546	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370364727	chr13:52481605-52481606	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145615150	chr13:52481642-52481643	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138239438	chr13:52481656-52481657	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184350200	chr13:52481678-52481679	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563002776	chr13:52481751-52481752	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34038648	chr13:52481774-52481775	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551858569	chr13:52481781-52481782	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565858013	chr13:52481792-52481793	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79906895	chr13:52481826-52481827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1886319	chr13:52481829-52481830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528106448	chr13:52481841-52481842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548440991	chr13:52481871-52481872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568409260	chr13:52481945-52481946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534562991	chr13:52481954-52481955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557197991	chr13:52482013-52482014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570932697	chr13:52482090-52482091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs539940091	chr13:52482116-52482117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553226053	chr13:52482173-52482174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7327651	chr13:52482272-52482273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541907548	chr13:52482334-52482335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555633026	chr13:52482347-52482348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6561653	chr13:52482361-52482362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544352224	chr13:52482391-52482392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35577493	chr13:52482400-52482401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148364463	chr13:52482401-52482402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564362515	chr13:52482408-52482409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532075418	chr13:52482412-52482413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6561654	chr13:52482429-52482430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559208298	chr13:52482438-52482439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542582362	chr13:52482442-52482443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548219561	chr13:52482447-52482448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52464600-52494400	Weak transcription	Aorta	Aorta
2	chr13:52470800-52481000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:52475600-52493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:52476200-52493800	Weak transcription	K562	blood
5	chr13:52476400-52496600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:52477000-52481800	Strong transcription	Fetal Intestine Small	intestine
7	chr13:52477600-52481800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:52479000-52481000	Weak transcription	Gastric	stomach
9	chr13:52479000-52481400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:52479400-52481600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:52479400-52491000	Weak transcription	Fetal Intestine Large	intestine
12	chr13:52479800-52481400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:52479800-52481400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:52480000-52481400	Enhancers	Brain Substantia Nigra	brain
15	chr13:52480000-52481800	Enhancers	Fetal Heart	heart
16	chr13:52480000-52486200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:52480200-52481200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr13:52480200-52481400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr13:52480200-52482000	Enhancers	Liver	Liver
20	chr13:52480200-52482000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:52480200-52497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:52480400-52481200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr13:52480400-52481200	Enhancers	Brain Anterior Caudate	brain
24	chr13:52480400-52481400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:52480400-52481600	Enhancers	Fetal Lung	lung
26	chr13:52480400-52481600	Enhancers	Pancreas	Pancrea
27	chr13:52480600-52481000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr13:52480600-52481200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr13:52480800-52481200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr13:52480800-52481200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:52480800-52481200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr13:52480800-52481200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr13:52480800-52481200	Enhancers	Esophagus	oesophagus
34	chr13:52480800-52481200	Enhancers	Stomach Smooth Muscle	stomach
35	chr13:52480800-52481400	Enhancers	Right Ventricle	heart
36	chr13:52480800-52481800	Enhancers	Left Ventricle	heart
37	chr13:52480800-52481800	Enhancers	Ovary	ovary
38	chr13:52480800-52481800	Enhancers	Spleen	Spleen
39	chr13:52480800-52481800	Enhancers	HepG2	liver
40	chr13:52481000-52481400	Enhancers	Lung	lung
41	chr13:52481000-52481600	Enhancers	Brain Cingulate Gyrus	brain
42	chr13:52481000-52481600	Enhancers	Gastric	stomach
43	chr13:52481000-52481600	Enhancers	Right Atrium	heart
44	chr13:52481200-52484800	Weak transcription	Esophagus	oesophagus
45	chr13:52481200-52485800	Weak transcription	Brain Anterior Caudate	brain
46	chr13:52481200-52485800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:52481200-52496400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr13:52481200-52496600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr13:52481400-52481600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:52481400-52484800	Enhancers	GM12878-XiMat	blood

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