Variant report

Variant	nsv983604
Chromosome Location	chr13:76166376-76167859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9318359	chr13:76166402-76166403	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535761778	chr13:76166407-76166408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113489349	chr13:76166420-76166421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61960592	chr13:76166437-76166438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188748352	chr13:76166466-76166467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536799071	chr13:76166472-76166473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77574505	chr13:76166504-76166505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10162224	chr13:76166522-76166523	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs534882542	chr13:76166530-76166531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546657200	chr13:76166551-76166552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9543987	chr13:76166559-76166560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190993881	chr13:76166564-76166565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8001729	chr13:76166566-76166567	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs111332834	chr13:76166569-76166570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9543988	chr13:76166574-76166575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36133915	chr13:76166582-76166583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74201049	chr13:76166584-76166585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369262388	chr13:76166585-76166586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71127560	chr13:76166588-76166589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372969830	chr13:76166593-76166594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67777133	chr13:76166631-76166632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549906506	chr13:76166632-76166633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553013326	chr13:76166641-76166642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199641193	chr13:76166648-76166649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36147336	chr13:76166685-76166686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574704589	chr13:76166719-76166720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541643241	chr13:76166734-76166735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187172727	chr13:76166763-76166764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9530447	chr13:76166802-76166803	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs191279056	chr13:76166827-76166828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183729832	chr13:76166908-76166909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7139740	chr13:76166942-76166943	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs547801484	chr13:76167079-76167080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559783895	chr13:76167101-76167102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187697958	chr13:76167119-76167120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7317250	chr13:76167141-76167142	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs556126759	chr13:76167240-76167241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146921651	chr13:76167242-76167243	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193266464	chr13:76167244-76167245	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7317172	chr13:76167294-76167295	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570084067	chr13:76167295-76167296	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534300882	chr13:76167297-76167298	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552967293	chr13:76167347-76167348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555786150	chr13:76167372-76167373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6562913	chr13:76167433-76167434	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs560353136	chr13:76167532-76167533	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6562914	chr13:76167537-76167538	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs572069534	chr13:76167607-76167608	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375929710	chr13:76167678-76167679	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185049438	chr13:76167747-76167748	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
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
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76124600-76183000	Weak transcription	Small Intestine	intestine
2	chr13:76124800-76167600	Weak transcription	Gastric	stomach
3	chr13:76124800-76170600	Weak transcription	Colonic Mucosa	Colon
4	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
5	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
6	chr13:76125200-76173800	Weak transcription	Fetal Heart	heart
7	chr13:76125200-76177800	Weak transcription	Stomach Mucosa	stomach
8	chr13:76125400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:76125600-76182000	Weak transcription	Fetal Brain Male	brain
10	chr13:76129400-76180400	Weak transcription	Thymus	Thymus
11	chr13:76141800-76178400	Weak transcription	HepG2	liver
12	chr13:76144000-76192400	Weak transcription	NHLF	lung
13	chr13:76144200-76194400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:76144400-76176800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:76148000-76173800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:76148000-76174200	Weak transcription	HSMMtube	muscle
17	chr13:76148000-76178600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:76148200-76177200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:76148200-76192200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr13:76149000-76179000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:76149800-76172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:76149800-76174200	Weak transcription	Psoas Muscle	Psoas
25	chr13:76149800-76180200	Weak transcription	NH-A	brain
26	chr13:76149800-76209600	Weak transcription	Lung	lung
27	chr13:76156800-76174000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:76158400-76192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:76158600-76177200	Weak transcription	Left Ventricle	heart
30	chr13:76158600-76182400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr13:76158600-76191400	Weak transcription	Fetal Intestine Small	intestine
32	chr13:76158600-76195200	Weak transcription	NHEK	skin
33	chr13:76158800-76182000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr13:76159000-76168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:76159000-76169800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:76159000-76194600	Weak transcription	HUVEC	blood vessel
37	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
38	chr13:76159200-76166600	Weak transcription	A549	lung
39	chr13:76159200-76169200	Strong transcription	HSMM	muscle
40	chr13:76159200-76173600	Weak transcription	NHDF-Ad	bronchial
41	chr13:76159200-76178200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr13:76159200-76180400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:76159200-76182600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:76159200-76186800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr13:76159200-76191200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:76159400-76168200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr13:76159400-76173400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr13:76159400-76174800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr13:76159400-76189800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:76159400-76201800	Weak transcription	Fetal Lung	lung

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