Variant report

Variant	nsv977372
Chromosome Location	chr13:67631274-67636478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67610771..67613638-chr13:67632502..67635346,2	K562	blood:

Extended variants
information (count: 188 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs260128	chr13:67631306-67631307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537479115	chr13:67631312-67631313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568285381	chr13:67631353-67631354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183183030	chr13:67631424-67631425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188160414	chr13:67631434-67631435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570416436	chr13:67631480-67631481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192932381	chr13:67631506-67631507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73211190	chr13:67631507-67631508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538149257	chr13:67631525-67631526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576611773	chr13:67631542-67631543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79501802	chr13:67631601-67631602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555902930	chr13:67631676-67631677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572668178	chr13:67631690-67631691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35526792	chr13:67631719-67631720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142157776	chr13:67631783-67631784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377119974	chr13:67631813-67631814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574910349	chr13:67631836-67631837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533538433	chr13:67631856-67631857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564184318	chr13:67631902-67631903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577603510	chr13:67631907-67631908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543542693	chr13:67631951-67631952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184122609	chr13:67631974-67631975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186884509	chr13:67632054-67632055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192408519	chr13:67632077-67632078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150993623	chr13:67632081-67632082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548098562	chr13:67632083-67632084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561880612	chr13:67632091-67632092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10492597	chr13:67632140-67632141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs185058236	chr13:67632158-67632159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539426855	chr13:67632229-67632230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113334192	chr13:67632230-67632231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188993172	chr13:67632235-67632236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78161720	chr13:67632354-67632355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373567969	chr13:67632373-67632374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143155316	chr13:67632385-67632386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148260291	chr13:67632386-67632387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564530130	chr13:67632398-67632399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572593947	chr13:67632470-67632471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531891715	chr13:67632473-67632474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76650219	chr13:67632512-67632513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376839259	chr13:67632548-67632549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55756666	chr13:67632621-67632622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577641196	chr13:67632699-67632700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141356816	chr13:67632701-67632702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150186428	chr13:67632702-67632703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370994411	chr13:67632715-67632716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574059728	chr13:67632731-67632732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1547143	chr13:67632763-67632764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs260129	chr13:67632784-67632785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539624773	chr13:67632889-67632890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	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
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67622400-67631400	Weak transcription	Psoas Muscle	Psoas
2	chr13:67623200-67636000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:67626400-67635400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:67626600-67631400	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:67626800-67636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:67627600-67632400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:67627800-67636400	Weak transcription	A549	lung
8	chr13:67628200-67631400	Weak transcription	Brain Angular Gyrus	brain
9	chr13:67628200-67631400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr13:67630800-67634600	Weak transcription	Brain Anterior Caudate	brain
11	chr13:67631200-67633600	Enhancers	Brain Substantia Nigra	brain
12	chr13:67631400-67631600	Enhancers	Psoas Muscle	Psoas
13	chr13:67631400-67631800	Enhancers	Brain Cingulate Gyrus	brain
14	chr13:67631400-67632800	Enhancers	Brain Angular Gyrus	brain
15	chr13:67631400-67636000	Enhancers	Brain Hippocampus Middle	brain
16	chr13:67631600-67633800	Weak transcription	Psoas Muscle	Psoas
17	chr13:67631800-67632200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr13:67632200-67633200	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:67632400-67632600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:67632600-67633000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:67632800-67634200	Weak transcription	Brain Angular Gyrus	brain
22	chr13:67633000-67633200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr13:67633000-67634000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:67633200-67634200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:67633200-67634200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:67633600-67634000	Weak transcription	Brain Substantia Nigra	brain
27	chr13:67633800-67634000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:67634000-67634400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:67634000-67635400	Enhancers	Brain Substantia Nigra	brain
30	chr13:67634000-67636000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:67634200-67634400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr13:67634200-67634400	Enhancers	Psoas Muscle	Psoas
33	chr13:67634200-67636000	Enhancers	Brain Angular Gyrus	brain
34	chr13:67634200-67636000	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:67634400-67634800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr13:67634400-67637200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:67634600-67634800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:67634600-67635200	Enhancers	Brain Anterior Caudate	brain
39	chr13:67634800-67635000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr13:67634800-67636200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr13:67634800-67636800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:67635000-67635200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:67635000-67636000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr13:67635200-67635600	Weak transcription	Brain Anterior Caudate	brain
45	chr13:67635200-67636000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr13:67635400-67635600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:67635400-67635800	Weak transcription	Brain Substantia Nigra	brain
48	chr13:67635400-67636600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:67635600-67635800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:67635600-67635800	Enhancers	Brain Anterior Caudate	brain

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