Variant report

Variant	nsv974212
Chromosome Location	chr13:67131313-67184740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
2	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
3	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:
4	chr13:67130453..67132993-chr13:67135238..67136917,2	K562	blood:
5	chr13:67157975..67159957-chr13:67162075..67164465,2	K562	blood:
6	chr13:67130437..67132993-chr13:67135417..67138774,3	K562	blood:

Extended variants
information (count: 910 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547740059	chr13:67131328-67131329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541481233	chr13:67131349-67131350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375142893	chr13:67131516-67131517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566000611	chr13:67131523-67131524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561729569	chr13:67131540-67131541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572178117	chr13:67131541-67131542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368061661	chr13:67131549-67131550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548791532	chr13:67131560-67131561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564713770	chr13:67131626-67131627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533228196	chr13:67131656-67131657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371878780	chr13:67131666-67131667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550480980	chr13:67131668-67131669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563850744	chr13:67131703-67131704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117825489	chr13:67131704-67131705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139602678	chr13:67131717-67131718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74093338	chr13:67131771-67131772	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4884679	chr13:67131780-67131781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547181582	chr13:67131804-67131805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570659398	chr13:67131920-67131921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528570355	chr13:67131935-67131936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539331801	chr13:67131965-67131966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192561411	chr13:67131993-67131994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564124674	chr13:67132002-67132003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576273104	chr13:67132043-67132044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149322216	chr13:67132044-67132045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562572689	chr13:67132058-67132059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555404186	chr13:67132083-67132084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572165646	chr13:67132100-67132101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551927227	chr13:67132273-67132274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567555538	chr13:67132334-67132335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571820881	chr13:67132339-67132340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147437909	chr13:67132450-67132451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564502794	chr13:67132451-67132452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76660646	chr13:67132452-67132453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185001880	chr13:67132486-67132487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543671948	chr13:67132496-67132497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140695460	chr13:67132575-67132576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529564245	chr13:67132649-67132650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144632339	chr13:67132668-67132669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147895738	chr13:67132672-67132673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528548765	chr13:67132702-67132703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551487961	chr13:67132729-67132730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190248901	chr13:67132734-67132735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533114083	chr13:67132748-67132749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549716953	chr13:67132808-67132809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148534626	chr13:67132823-67132824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570165809	chr13:67132826-67132827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535792624	chr13:67132850-67132851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577935026	chr13:67132907-67132908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555390069	chr13:67132978-67132979	Enhancers Weak transcription	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67125600-67134200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:67130200-67133400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:67130400-67131400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr13:67131000-67131400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:67131000-67132000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:67131000-67139400	Weak transcription	Fetal Kidney	kidney
7	chr13:67131200-67131400	Enhancers	Fetal Lung	lung
8	chr13:67131200-67131400	Enhancers	A549	lung
9	chr13:67131200-67131800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:67131200-67132200	Weak transcription	Brain Substantia Nigra	brain
11	chr13:67131200-67132800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:67131400-67132400	Weak transcription	A549	lung
13	chr13:67131400-67141600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:67131600-67133200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:67131800-67132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:67132000-67132200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:67132000-67132600	Weak transcription	Fetal Lung	lung
18	chr13:67132000-67133200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:67132000-67133200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr13:67132200-67133000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:67132200-67133000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:67132200-67133200	Enhancers	Brain Substantia Nigra	brain
23	chr13:67132200-67133200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr13:67132400-67133000	Enhancers	Brain Anterior Caudate	brain
25	chr13:67132400-67133200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:67132400-67134800	Enhancers	A549	lung
27	chr13:67132600-67133200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:67132600-67133400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:67132800-67133000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr13:67132800-67133200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr13:67132800-67133200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:67132800-67133200	Enhancers	K562	blood
33	chr13:67132800-67133400	Enhancers	Fetal Lung	lung
34	chr13:67133000-67133200	Enhancers	Osteobl	bone
35	chr13:67133000-67134200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:67133200-67134200	Weak transcription	K562	blood
37	chr13:67133200-67134400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr13:67133200-67134400	Weak transcription	Brain Substantia Nigra	brain
39	chr13:67134200-67134600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:67134200-67134600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:67134200-67134800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:67134200-67135000	Enhancers	K562	blood
43	chr13:67134200-67135200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:67134400-67134600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:67134400-67134800	Enhancers	Brain Substantia Nigra	brain
46	chr13:67134600-67136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr13:67135000-67135600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:67135000-67136800	Weak transcription	K562	blood
49	chr13:67135200-67135800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:67136800-67138000	Enhancers	K562	blood

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