Variant report

Variant	esv3361703
Chromosome Location	chr13:50644422-50644849
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50641977..50644560-chr13:50723615..50726580,2	K562	blood:
2	chr13:50628040..50629720-chr13:50642788..50645600,2	K562	blood:
3	chr13:50570406..50572751-chr13:50644478..50647028,2	MCF-7	breast:
4	chr13:50644274..50647771-chr13:50654406..50657878,4	MCF-7	breast:
5	chr13:50638410..50642177-chr13:50643409..50648630,6	K562	blood:
6	chr13:50644302..50647195-chr13:50765968..50768337,2	K562	blood:
7	chr13:50643414..50645433-chr13:50654629..50656317,2	MCF-7	breast:
8	chr13:50643871..50644833-chr13:50654802..50655393,2	MCF-7	breast:
9	chr13:50642440..50645245-chr13:50696883..50698935,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRYD7-1	chr13:50644718-50644777	ENSG00000231607

No data

Variant related genes	Relation type
ENSG00000264864	chromatin interactions
ENSG00000176124	chromatin interactions
ENSG00000204977	chromatin interactions
ENSG00000231607	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191678532	chr13:50644428-50644429	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556745057	chr13:50644452-50644453	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs9568374	chr13:50644453-50644454	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs790944	chr13:50644481-50644482	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs790945	chr13:50644561-50644562	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2407897	chr13:50644623-50644624	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs542239191	chr13:50644705-50644706	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs790946	chr13:50644757-50644758	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560031530	chr13:50644758-50644759	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs9591317	chr13:50644775-50644776	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs7140070	chr13:50644776-50644777	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs9591318	chr13:50644777-50644778	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs35940018	chr13:50644780-50644781	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs10650674	chr13:50644787-50644788	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs548748245	chr13:50644832-50644833	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs568662991	chr13:50644833-50644834	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

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	17899364	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
Alveolar rhabdomyosarcoma	16790082	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
Congenital anomalies of the kidney and urinary tract	20467480	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
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
2	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
4	chr13:50588000-50645600	Weak transcription	Ovary	ovary
5	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
7	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:50611800-50646400	Strong transcription	Fetal Thymus	thymus
11	chr13:50612800-50645400	Weak transcription	HSMMtube	muscle
12	chr13:50616000-50653600	Weak transcription	Fetal Kidney	kidney
13	chr13:50617400-50650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:50617400-50654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:50621400-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:50622600-50653400	Weak transcription	Fetal Brain Male	brain
17	chr13:50622800-50653400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:50623400-50645600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr13:50624400-50654200	Weak transcription	Pancreas	Pancrea
20	chr13:50625400-50654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:50625600-50649000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr13:50626600-50654000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:50628400-50652400	Weak transcription	Psoas Muscle	Psoas
24	chr13:50630000-50651000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:50630600-50645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:50630800-50645400	Weak transcription	Brain Anterior Caudate	brain
27	chr13:50631200-50645200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:50631200-50646200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr13:50631800-50645400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:50633000-50653600	Weak transcription	Fetal Stomach	stomach
31	chr13:50633400-50652200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr13:50635000-50645000	Weak transcription	Brain Germinal Matrix	brain
33	chr13:50637000-50645600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:50637200-50646200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:50637600-50646200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:50638000-50645600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr13:50638400-50653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:50639400-50645600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:50639800-50649000	Genic enhancers	Dnd41	blood
40	chr13:50640200-50650800	Weak transcription	Right Ventricle	heart
41	chr13:50640400-50649800	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:50641200-50651600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr13:50641400-50654200	Weak transcription	Left Ventricle	heart
44	chr13:50641600-50650200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr13:50641600-50651800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:50641600-50653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr13:50641800-50645600	Weak transcription	Right Atrium	heart
48	chr13:50641800-50654400	Weak transcription	Lung	lung
49	chr13:50642000-50645200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr13:50642000-50645600	Weak transcription	Fetal Intestine Small	intestine

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