Variant report

Variant	nsv562567
Chromosome Location	chr13:85550652-85612388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1004 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17078926	chr13:85550652-85550653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370629814	chr13:85550658-85550659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35628332	chr13:85550684-85550685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570121593	chr13:85550686-85550687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537499021	chr13:85550700-85550701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543914178	chr13:85550710-85550711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549867376	chr13:85550712-85550713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9547002	chr13:85550752-85550753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535671634	chr13:85550759-85550760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553758705	chr13:85550765-85550766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76721583	chr13:85550812-85550813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140919579	chr13:85550819-85550820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557265351	chr13:85550837-85550838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184668605	chr13:85550902-85550903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386772911	chr13:85550930-85550931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201225253	chr13:85550932-85550933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2496755	chr13:85550938-85550939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67373308	chr13:85550942-85550943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200705241	chr13:85550943-85550944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562228984	chr13:85550977-85550978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574136609	chr13:85550999-85551000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143062817	chr13:85551032-85551033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563921092	chr13:85551036-85551037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533406581	chr13:85551047-85551048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58124551	chr13:85551066-85551067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563709601	chr13:85551118-85551119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9565987	chr13:85551129-85551130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181580048	chr13:85551135-85551136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568173460	chr13:85551144-85551145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74920049	chr13:85551160-85551161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9565988	chr13:85551176-85551177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2485249	chr13:85551200-85551201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9575702	chr13:85551211-85551212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185898152	chr13:85551222-85551223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148213812	chr13:85551234-85551235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537488007	chr13:85551236-85551237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555558121	chr13:85551254-85551255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56237337	chr13:85551327-85551328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9575703	chr13:85551334-85551335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150593458	chr13:85551354-85551355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200263296	chr13:85551387-85551388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9575704	chr13:85551405-85551406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9547003	chr13:85551439-85551440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2485250	chr13:85551462-85551463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2496756	chr13:85551500-85551501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2485251	chr13:85551534-85551535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566755653	chr13:85551548-85551549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189542144	chr13:85551566-85551567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561622468	chr13:85551596-85551597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140127570	chr13:85551614-85551615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85548400-85552400	Weak transcription	Fetal Kidney	kidney
2	chr13:85549200-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:85549400-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:85552400-85553000	Enhancers	Fetal Kidney	kidney
5	chr13:85552600-85553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:85552600-85555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:85553200-85554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:85554200-85555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:85567600-85568000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:85568000-85568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:85568400-85569200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:85568600-85568800	Enhancers	A549	lung
13	chr13:85568600-85569400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr13:85568600-85569400	Enhancers	Stomach Mucosa	stomach
15	chr13:85568800-85569200	Active TSS	A549	lung
16	chr13:85569000-85569400	Enhancers	HepG2	liver
17	chr13:85569200-85569400	Flanking Active TSS	A549	lung
18	chr13:85587400-85587600	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr13:85591800-85592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:85592400-85593400	Enhancers	Brain Hippocampus Middle	brain
21	chr13:85592600-85593000	Enhancers	Brain Anterior Caudate	brain
22	chr13:85592600-85594600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr13:85592800-85593000	Enhancers	Brain Substantia Nigra	brain
24	chr13:85593000-85593600	Weak transcription	Brain Substantia Nigra	brain
25	chr13:85593200-85594400	Enhancers	Brain Cingulate Gyrus	brain
26	chr13:85593400-85593800	Active TSS	Brain Hippocampus Middle	brain
27	chr13:85593600-85594400	Enhancers	Brain Substantia Nigra	brain
28	chr13:85593800-85594000	Enhancers	Brain Hippocampus Middle	brain
29	chr13:85598600-85598800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:85598800-85609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:85606000-85606400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:85608400-85608600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:85608600-85615600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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