Variant report

Variant	esv3380074
Chromosome Location	chr13:97635686-97636265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577432048	chr13:97635695-97635696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs185840844	chr13:97635724-97635725	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs191264491	chr13:97635802-97635803	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201509044	chr13:97635805-97635806	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566584658	chr13:97635879-97635880	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372761300	chr13:97635907-97635908	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs138462006	chr13:97635933-97635934	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs74110717	chr13:97635951-97635952	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs7317397	chr13:97635977-97635978	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9584455	chr13:97635996-97635997	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182661927	chr13:97636004-97636005	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564247393	chr13:97636025-97636026	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142254729	chr13:97636042-97636043	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs200166904	chr13:97636072-97636073	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138656468	chr13:97636110-97636111	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533233616	chr13:97636171-97636172	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs549547088	chr13:97636179-97636180	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77498846	chr13:97636230-97636231	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530737417	chr13:97636240-97636241	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Burkitt''s lymphoma	20823134	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97630800-97646000	Weak transcription	Esophagus	oesophagus
2	chr13:97634200-97636200	Enhancers	Adipose Nuclei	Adipose
3	chr13:97634200-97636200	Enhancers	HUVEC	blood vessel
4	chr13:97634600-97636000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:97634600-97636200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr13:97634600-97637200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr13:97634800-97636000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:97634800-97636200	Enhancers	Primary hematopoietic stem cells	blood
9	chr13:97634800-97636600	Enhancers	Primary B cells from cord blood	blood
10	chr13:97635000-97636200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:97635000-97636400	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:97635200-97636400	Weak transcription	NHEK	skin
13	chr13:97635400-97636600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr13:97635400-97639000	Weak transcription	Gastric	stomach
15	chr13:97635600-97635800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr13:97635600-97636600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:97635600-97637000	Enhancers	Fetal Intestine Large	intestine
18	chr13:97635600-97637000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr13:97635800-97636600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:97635800-97636800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr13:97636000-97636200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr13:97636000-97636200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:97636000-97636200	Enhancers	Duodenum Mucosa	Duodenum
24	chr13:97636000-97636200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:97636000-97636200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr13:97636000-97636200	Enhancers	Rectal Smooth Muscle	rectum
27	chr13:97636000-97636800	Enhancers	Stomach Mucosa	stomach
28	chr13:97636000-97637000	Enhancers	Fetal Kidney	kidney
29	chr13:97636000-97637000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr13:97636200-97636400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr13:97636200-97636400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:97636200-97636400	Enhancers	Fetal Lung	lung
33	chr13:97636200-97636400	Bivalent Enhancer	HUVEC	blood vessel
34	chr13:97636200-97636600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr13:97636200-97636600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:97636200-97636600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr13:97636200-97636600	Active TSS	Brain Substantia Nigra	brain
38	chr13:97636200-97636600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr13:97636200-97636600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr13:97636200-97636600	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr13:97636200-97636600	Active TSS	Right Atrium	heart
42	chr13:97636200-97636600	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr13:97636200-97636600	Enhancers	HMEC	breast
44	chr13:97636200-97636800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr13:97636200-97636800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr13:97636200-97636800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:97636200-97636800	Active TSS	Brain Anterior Caudate	brain
48	chr13:97636200-97636800	Active TSS	GM12878-XiMat	blood
49	chr13:97636200-97637000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr13:97636200-97637000	Active TSS	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links