Variant report

Variant	nsv983747
Chromosome Location	chr13:50920787-50927900
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50920118..50922005-chr13:50922118..50924791,2	K562	blood:
2	chr13:50923658..50925189-chr13:50928081..50930384,2	MCF-7	breast:
3	chr13:50697643..50701953-chr13:50927459..50931609,5	MCF-7	breast:
4	chr13:50917522..50919059-chr13:50924878..50927218,2	K562	blood:
5	chr13:50921012..50924496-chr13:50928221..50931667,4	MCF-7	breast:
6	chr13:50920118..50922005-chr13:50922118..50924791,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNRG-4	chr13:50925759-50926846	l_843_chr13:50925653-50926846_thyroid
2	lnc-KCNRG-4	chr13:50925654-50925732	l_843_chr13:50925653-50926846_thyroid

No data

Variant related genes	Relation type
ENSG00000231607	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535704434	chr13:50920788-50920789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557254618	chr13:50920818-50920819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187154746	chr13:50920826-50920827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17363026	chr13:50920890-50920891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557966086	chr13:50921005-50921006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538490812	chr13:50921044-50921045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573326359	chr13:50921052-50921053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540380743	chr13:50921076-50921077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562064833	chr13:50921096-50921097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558694392	chr13:50921101-50921102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529325307	chr13:50921153-50921154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192513829	chr13:50921167-50921168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80176294	chr13:50921191-50921192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182368456	chr13:50921250-50921251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376645193	chr13:50921255-50921256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2762042	chr13:50921274-50921275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566437818	chr13:50921341-50921342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527342361	chr13:50921382-50921383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554147436	chr13:50921516-50921517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572244967	chr13:50921534-50921535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35835746	chr13:50921545-50921546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567227130	chr13:50921574-50921575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537466467	chr13:50921576-50921577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563138075	chr13:50921595-50921596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557217926	chr13:50921636-50921637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569254204	chr13:50921657-50921658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539633533	chr13:50921671-50921672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558288330	chr13:50921707-50921708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573357225	chr13:50921746-50921747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189979099	chr13:50921755-50921756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555594915	chr13:50921769-50921770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34971508	chr13:50921774-50921775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574066880	chr13:50921785-50921786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544646858	chr13:50921811-50921812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562768570	chr13:50921820-50921821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182598044	chr13:50921998-50921999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112291908	chr13:50922027-50922028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544985006	chr13:50922038-50922039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560250975	chr13:50922123-50922124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550668024	chr13:50922130-50922131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549030665	chr13:50922188-50922189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567059469	chr13:50922217-50922218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531201541	chr13:50922257-50922258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549403860	chr13:50922268-50922269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544110431	chr13:50922324-50922325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575215270	chr13:50922334-50922335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540076141	chr13:50922354-50922355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551808153	chr13:50922360-50922361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367889840	chr13:50922371-50922372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187103517	chr13:50922428-50922429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50913000-50921000	Weak transcription	HepG2	liver
2	chr13:50915000-50928200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:50919000-50920800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:50919400-50921400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:50920600-50921400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:50920800-50928200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr13:50921000-50922800	Enhancers	HepG2	liver
8	chr13:50921400-50921600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr13:50921600-50922200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr13:50922200-50922400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr13:50922800-50926000	Weak transcription	HepG2	liver
12	chr13:50923200-50923800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr13:50923600-50923800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:50925800-50926000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:50926000-50927600	Enhancers	HepG2	liver
16	chr13:50926000-50928000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:50926000-50929000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:50926600-50929400	Enhancers	NHDF-Ad	bronchial
19	chr13:50926600-50933000	Enhancers	Liver	Liver
20	chr13:50926600-50934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr13:50926800-50927200	Enhancers	Osteobl	bone
22	chr13:50927000-50927200	Enhancers	Fetal Kidney	kidney
23	chr13:50927000-50927400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:50927000-50928600	Enhancers	HSMM	muscle
25	chr13:50927000-50928600	Enhancers	NH-A	brain
26	chr13:50927200-50927400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:50927200-50927400	Flanking Active TSS	Osteobl	bone
28	chr13:50927200-50927800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:50927200-50928000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:50927200-50928200	Weak transcription	Fetal Kidney	kidney
31	chr13:50927200-50928600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:50927200-50928600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:50927200-50928800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:50927200-50928800	Enhancers	NHLF	lung
35	chr13:50927200-50930400	Enhancers	Fetal Thymus	thymus
36	chr13:50927400-50927600	Enhancers	Left Ventricle	heart
37	chr13:50927400-50927600	Enhancers	Psoas Muscle	Psoas
38	chr13:50927400-50927600	Enhancers	Osteobl	bone
39	chr13:50927400-50928200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr13:50927400-50928600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:50927400-50928600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:50927400-50928600	Enhancers	Fetal Muscle Leg	muscle
43	chr13:50927400-50929000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:50927400-50929400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr13:50927600-50927800	Flanking Active TSS	Osteobl	bone
46	chr13:50927600-50928400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr13:50927600-50928600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:50927600-50929000	Enhancers	HSMMtube	muscle
49	chr13:50927600-50931400	Weak transcription	Left Ventricle	heart
50	chr13:50927600-50931400	Weak transcription	Psoas Muscle	Psoas

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