Variant report

Variant	nsv900378
Chromosome Location	chr13:65792277-65876631
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:65802985..65805270-chr13:66070535..66073117,2	K562	blood:
2	chr12:120729593..120731262-chr13:65821446..65822946,2	MCF-7	breast:
3	chr12:120730575..120731437-chr13:65821446..65821946,4	HCT-116	colon:
4	chr13:65796967..65799458-chr13:65799743..65801550,2	MCF-7	breast:
5	chr12:120729617..120731155-chr13:65821446..65822966,3	MCF-7	breast:
6	chr12:120729600..120731304-chr13:65821466..65822966,4	K562	blood:
7	chr13:65787284..65789901-chr13:65800998..65803685,2	MCF-7	breast:
8	chr12:120730653..120731282-chr13:65820966..65821966,3	MCF-7	breast:
9	chr12:120729601..120731270-chr13:65821466..65822966,2	K562	blood:
10	chr13:65796967..65799458-chr13:65799743..65801550,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200795	chromatin interactions
ENSG00000202538	chromatin interactions

Extended variants
information (count: 746 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs778437	chr13:65792277-65792278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74775713	chr13:65792287-65792288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183722392	chr13:65792302-65792303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533297656	chr13:65792344-65792345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554804342	chr13:65792353-65792354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570417326	chr13:65792362-65792363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188392967	chr13:65792378-65792379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192429053	chr13:65792382-65792383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9540381	chr13:65792398-65792399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550126335	chr13:65799624-65799625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373561173	chr13:65799641-65799642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529344581	chr13:65799653-65799654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35391691	chr13:65799664-65799665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549352511	chr13:65799677-65799678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118128268	chr13:65799685-65799686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73506695	chr13:65799701-65799702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187246252	chr13:65799730-65799731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6562411	chr13:65799758-65799759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77610062	chr13:65799770-65799771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115294618	chr13:65799850-65799851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557273276	chr13:65799865-65799866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567578183	chr13:65799894-65799895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535082839	chr13:65799895-65799896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79694435	chr13:65799900-65799901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375857664	chr13:65799915-65799916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367682198	chr13:65799947-65799948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192093817	chr13:65799957-65799958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547490703	chr13:65799980-65799981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540803023	chr13:65800042-65800043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184490301	chr13:65800048-65800049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188500301	chr13:65800063-65800064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543631439	chr13:65800078-65800079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563579367	chr13:65800082-65800083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529176093	chr13:65800100-65800101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543060075	chr13:65800106-65800107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181406326	chr13:65800118-65800119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536509423	chr13:65800140-65800141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7986547	chr13:65800165-65800166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551631798	chr13:65800265-65800266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571707641	chr13:65800288-65800289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531020902	chr13:65800323-65800324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550714129	chr13:65800326-65800327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567639556	chr13:65800383-65800384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556757182	chr13:65810844-65810845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183953991	chr13:65810845-65810846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570213590	chr13:65810894-65810895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2117001	chr13:65810896-65810897	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188749246	chr13:65810906-65810907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556021462	chr13:65810923-65810924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574388728	chr13:65810982-65810983	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:65791200-65792400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:65799600-65800400	Enhancers	Fetal Heart	heart
3	chr13:65810800-65811200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr13:65811200-65812000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:65814000-65814800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr13:65823400-65823600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:65823600-65824400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:65824400-65825400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:65824800-65825000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:65830200-65830400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:65833200-65834400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:65834200-65834800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:65834200-65834800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:65834200-65836600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:65834400-65834800	Enhancers	Primary hematopoietic stem cells	blood
16	chr13:65834400-65834800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:65834400-65834800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:65834400-65836000	Enhancers	Fetal Lung	lung
19	chr13:65834600-65834800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr13:65834800-65835000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:65834800-65835000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:65834800-65835000	Active TSS	HUVEC	blood vessel
23	chr13:65834800-65835200	Active TSS	Primary hematopoietic stem cells	blood
24	chr13:65834800-65835200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr13:65834800-65835200	Active TSS	Dnd41	blood
26	chr13:65834800-65835400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr13:65834800-65835400	Active TSS	NHDF-Ad	bronchial
28	chr13:65834800-65835600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:65834800-65835600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:65834800-65835600	Active TSS	Adipose Nuclei	Adipose
31	chr13:65834800-65835600	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr13:65834800-65835800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:65834800-65836000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:65835000-65835200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:65835000-65835200	Flanking Active TSS	HUVEC	blood vessel
36	chr13:65835000-65835400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr13:65835000-65835400	Active TSS	Brain Anterior Caudate	brain
38	chr13:65835000-65835400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr13:65835000-65835400	Active TSS	Right Atrium	heart
40	chr13:65835000-65835400	Active TSS	NH-A	brain
41	chr13:65835000-65835600	Active TSS	A549	lung
42	chr13:65835000-65835800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:65835000-65835800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr13:65835000-65836000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:65835200-65835400	Flanking Active TSS	Liver	Liver
46	chr13:65835200-65835400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:65835200-65835400	Flanking Active TSS	Dnd41	blood
48	chr13:65835200-65835600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr13:65835200-65835600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr13:65835200-65835600	Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links