Variant report

Variant	esv2393854
Chromosome Location	chr13:95848710-95849120
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564099760	chr13:95848781-95848782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533283250	chr13:95848795-95848796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200104284	chr13:95848800-95848801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547929296	chr13:95848834-95848835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373606580	chr13:95848836-95848837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372477082	chr13:95848839-95848840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146675493	chr13:95848840-95848841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9524823	chr13:95848842-95848843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9524824	chr13:95848844-95848845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568547674	chr13:95848857-95848858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533987403	chr13:95848865-95848866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200719132	chr13:95848883-95848884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201372025	chr13:95848885-95848886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9524825	chr13:95848908-95848909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373200699	chr13:95848914-95848915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376287908	chr13:95848916-95848917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369799978	chr13:95848918-95848919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571071197	chr13:95848960-95848961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184997475	chr13:95848965-95848966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190687110	chr13:95848972-95848973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539776911	chr13:95848980-95848981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373716246	chr13:95848983-95848984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144216441	chr13:95848985-95848986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12867398	chr13:95848987-95848988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61965915	chr13:95848989-95848990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9516531	chr13:95848991-95848992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61965916	chr13:95848993-95848994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540096620	chr13:95848995-95848996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9634485	chr13:95849053-95849054	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1751020	chr13:95849115-95849116	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95807000-95857800	Weak transcription	Esophagus	oesophagus
2	chr13:95807200-95865600	Weak transcription	Colonic Mucosa	Colon
3	chr13:95808400-95854600	Weak transcription	NHEK	skin
4	chr13:95813200-95858000	Weak transcription	Aorta	Aorta
5	chr13:95827400-95872400	Weak transcription	NH-A	brain
6	chr13:95829400-95856000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr13:95830400-95857800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:95830400-95857800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:95833600-95856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:95833800-95855400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:95833800-95856600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:95833800-95859800	Weak transcription	Colon Smooth Muscle	Colon
13	chr13:95834000-95865400	Weak transcription	Psoas Muscle	Psoas
14	chr13:95834400-95849200	Weak transcription	K562	blood
15	chr13:95838200-95867400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr13:95839200-95857000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:95839400-95857200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr13:95839400-95857800	Weak transcription	Primary T cells from cord blood	blood
19	chr13:95839400-95863800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:95839600-95856800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr13:95839600-95857800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
23	chr13:95841800-95854200	Weak transcription	HUVEC	blood vessel
24	chr13:95842000-95855600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:95842000-95856000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:95842000-95857800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:95842000-95864800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
29	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
30	chr13:95844400-95864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:95844400-95865600	Weak transcription	Spleen	Spleen
32	chr13:95844400-95867600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr13:95844600-95858400	Weak transcription	HSMM	muscle
34	chr13:95844600-95863600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:95845000-95857000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:95846200-95858400	Weak transcription	HepG2	liver
38	chr13:95846200-95859400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
40	chr13:95846400-95851600	Weak transcription	Lung	lung
41	chr13:95846400-95856200	Weak transcription	Gastric	stomach
42	chr13:95846600-95851000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:95846600-95854000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr13:95846600-95855200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:95846600-95855800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr13:95846600-95857600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:95846600-95857600	Weak transcription	Fetal Intestine Large	intestine
48	chr13:95846800-95848800	Weak transcription	Brain Substantia Nigra	brain
49	chr13:95846800-95849200	Weak transcription	NHLF	lung
50	chr13:95846800-95851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links