Variant report

Variant	nsv526999
Chromosome Location	chr13:51440933-51452751
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:51444050..51446783-chr13:51482621..51484438,2	K562	blood:
2	chr13:51451175..51452733-chr13:51482533..51485257,2	K562	blood:
3	chr13:51452163..51454609-chr13:51458977..51461439,2	MCF-7	breast:
4	chr13:51451886..51453758-chr13:51483601..51485898,2	MCF-7	breast:
5	chr13:51447595..51449565-chr13:51482789..51485089,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLEU7-1	chr13:51450822-51451098	ENSG00000233672.2

No data

Variant related genes	Relation type
ENSG00000233672	chromatin interactions
ENSG00000136104	chromatin interactions

Extended variants
information (count: 369 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9596398	chr13:51440933-51440934	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142123973	chr13:51440935-51440936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537615533	chr13:51440947-51440948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556247252	chr13:51440975-51440976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs516065	chr13:51440994-51440995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538665974	chr13:51441006-51441007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189156204	chr13:51441067-51441068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370966855	chr13:51441097-51441098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534502999	chr13:51441149-51441150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139861506	chr13:51441152-51441153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149705583	chr13:51441191-51441192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544795881	chr13:51441206-51441207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182039229	chr13:51441208-51441209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578026808	chr13:51441294-51441295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552012942	chr13:51441314-51441315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565740667	chr13:51441340-51441341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs524973	chr13:51441348-51441349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs560288811	chr13:51441351-51441352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548021034	chr13:51441421-51441422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145436874	chr13:51441422-51441423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200280823	chr13:51441438-51441439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369211476	chr13:51441440-51441441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386770955	chr13:51441442-51441443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111435275	chr13:51441443-51441444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200895763	chr13:51441444-51441445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531432935	chr13:51441455-51441456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7998748	chr13:51441474-51441475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571361932	chr13:51441481-51441482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374924928	chr13:51441495-51441496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538353924	chr13:51441521-51441522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs8002984	chr13:51441558-51441559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201862073	chr13:51441575-51441576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547426592	chr13:51441576-51441577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375651592	chr13:51441577-51441578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552115571	chr13:51441579-51441580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386770956	chr13:51441580-51441581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536223781	chr13:51441583-51441584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571781093	chr13:51441584-51441585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10611192	chr13:51441589-51441590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7982304	chr13:51441592-51441593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574370799	chr13:51441596-51441597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113277415	chr13:51441617-51441618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148405459	chr13:51441671-51441672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578087428	chr13:51441676-51441677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545182191	chr13:51441734-51441735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs180984067	chr13:51441788-51441789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560180669	chr13:51441796-51441797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572130250	chr13:51441835-51441836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542590547	chr13:51441886-51441887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142656324	chr13:51441935-51441936	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
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
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51437800-51442800	Enhancers	Dnd41	blood
2	chr13:51438200-51442200	Enhancers	Fetal Thymus	thymus
3	chr13:51440400-51441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:51440400-51442000	Enhancers	Thymus	Thymus
5	chr13:51440400-51442200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:51441400-51442000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:51441400-51442200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:51441600-51442000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:51441600-51442000	Enhancers	Brain Hippocampus Middle	brain
10	chr13:51441600-51442000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr13:51441600-51442200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:51441600-51442200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:51441600-51442200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:51441800-51442200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:51441800-51442200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr13:51442200-51447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:51442800-51449800	Weak transcription	Dnd41	blood
18	chr13:51447200-51448400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:51447600-51448200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:51447600-51448200	Enhancers	NHDF-Ad	bronchial
21	chr13:51447800-51448200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:51447800-51448200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:51447800-51448400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:51451400-51452400	Enhancers	Fetal Thymus	thymus
25	chr13:51451400-51453000	Enhancers	Thymus	Thymus
26	chr13:51452400-51454600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links