Variant report

Variant	nsv826640
Chromosome Location	chr13:50976454-50978128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50697982..50700484-chr13:50975890..50978700,2	MCF-7	breast:
2	chr13:50698296..50700620-chr13:50977977..50980927,2	K562	blood:
3	chr13:50976218..50978000-chr13:50981678..50984130,2	MCF-7	breast:
4	chr13:50699120..50701231-chr13:50977977..50979669,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	chromatin interactions

Extended variants
information (count: 46 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542995984	chr13:50976510-50976511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9596290	chr13:50976532-50976533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35142123	chr13:50976607-50976608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9591331	chr13:50976619-50976620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549976456	chr13:50976634-50976635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554089266	chr13:50976683-50976684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533430920	chr13:50976685-50976686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571382066	chr13:50976744-50976745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146085505	chr13:50976801-50976802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547757205	chr13:50976983-50976984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73500250	chr13:50976993-50976994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536544832	chr13:50976997-50976998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140103391	chr13:50977002-50977003	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149770064	chr13:50977022-50977023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145715795	chr13:50977028-50977029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558814262	chr13:50977051-50977052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576855978	chr13:50977064-50977065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181733344	chr13:50977097-50977098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142986945	chr13:50977100-50977101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531245795	chr13:50977107-50977108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs186434861	chr13:50977152-50977153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541431174	chr13:50977163-50977164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373945823	chr13:50977164-50977165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs115077335	chr13:50977270-50977271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543589532	chr13:50977289-50977290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565174686	chr13:50977352-50977353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532632107	chr13:50977369-50977370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547625396	chr13:50977414-50977415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147710845	chr13:50977424-50977425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567754311	chr13:50977426-50977427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534855140	chr13:50977438-50977439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548619626	chr13:50977457-50977458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571135839	chr13:50977564-50977565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368420949	chr13:50977573-50977574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191056348	chr13:50977592-50977593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537375454	chr13:50977673-50977674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182655257	chr13:50977681-50977682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546871756	chr13:50977696-50977697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372307644	chr13:50977770-50977771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs35163966	chr13:50977778-50977779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534817934	chr13:50977878-50977879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552749871	chr13:50977929-50977930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574489459	chr13:50977984-50977985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553997422	chr13:50977993-50977994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78926421	chr13:50978034-50978035	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs556568857	chr13:50978043-50978044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Trisomy	24170809	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
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	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
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Sezary syndrome	18413736	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50965200-50977000	Weak transcription	Esophagus	oesophagus
2	chr13:50966600-50979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50968200-50985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:50968200-50986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:50972000-50977200	Weak transcription	Gastric	stomach
6	chr13:50972200-50985400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:50973200-50979200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:50974200-50976600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:50974200-50976800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:50974200-50976800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:50974200-50976800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:50974200-50976800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:50974200-50976800	Enhancers	NH-A	brain
14	chr13:50974200-50977000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr13:50974200-50977000	Enhancers	Brain Germinal Matrix	brain
16	chr13:50974400-50976800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:50974400-50977400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:50974400-50977400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:50974400-50977800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:50974600-50976600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr13:50974600-50977600	Enhancers	Hela-S3	cervix
22	chr13:50974800-50976800	Enhancers	HMEC	breast
23	chr13:50974800-50977000	Enhancers	Brain Cingulate Gyrus	brain
24	chr13:50974800-50977200	Weak transcription	Psoas Muscle	Psoas
25	chr13:50975400-50977400	Weak transcription	Lung	lung
26	chr13:50975400-50985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
28	chr13:50975600-50977000	Weak transcription	Fetal Thymus	thymus
29	chr13:50975600-50977000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr13:50975600-50977400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr13:50975600-50978000	Enhancers	Fetal Heart	heart
32	chr13:50975600-50978600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:50975600-50979000	Weak transcription	Fetal Lung	lung
34	chr13:50975800-50976800	Weak transcription	HepG2	liver
35	chr13:50975800-50977200	Weak transcription	Left Ventricle	heart
36	chr13:50975800-50977200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:50975800-50977200	Enhancers	NHDF-Ad	bronchial
38	chr13:50975800-50977400	Weak transcription	Colon Smooth Muscle	Colon
39	chr13:50975800-50977600	Weak transcription	Fetal Stomach	stomach
40	chr13:50975800-50983600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr13:50975800-50985200	Weak transcription	Right Atrium	heart
42	chr13:50976000-50976600	Enhancers	Brain Hippocampus Middle	brain
43	chr13:50976000-50976600	Enhancers	HSMMtube	muscle
44	chr13:50976000-50976800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:50976000-50976800	Enhancers	HSMM	muscle
46	chr13:50976000-50977000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:50976000-50977200	Weak transcription	A549	lung
48	chr13:50976000-50977600	Enhancers	Osteobl	bone
49	chr13:50976000-50978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:50976000-50978600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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