Variant report

Variant	nsv562135
Chromosome Location	chr13:67297898-67343266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:
2	chr13:67294702..67297502-chr13:67302140..67304650,2	MCF-7	breast:
3	chr13:67321108..67323350-chr13:67324882..67327027,2	MCF-7	breast:

Extended variants
information (count: 641 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7987589	chr13:67297898-67297899	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544359383	chr13:67297950-67297951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564321889	chr13:67297972-67297973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555193734	chr13:67297989-67297990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188751848	chr13:67298019-67298020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540825100	chr13:67298056-67298057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180677254	chr13:67298077-67298078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532855193	chr13:67298078-67298079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545849690	chr13:67298092-67298093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77623520	chr13:67298093-67298094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531675014	chr13:67298168-67298169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9540877	chr13:67298183-67298184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186114009	chr13:67298200-67298201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146556907	chr13:67298220-67298221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562199931	chr13:67298272-67298273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529811964	chr13:67298299-67298300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546791292	chr13:67298304-67298305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529704531	chr13:67298323-67298324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547867801	chr13:67298372-67298373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566629511	chr13:67298377-67298378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538954744	chr13:67298394-67298395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558572079	chr13:67298402-67298403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560337550	chr13:67298453-67298454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190345605	chr13:67298466-67298467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533023745	chr13:67298517-67298518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537937509	chr13:67298553-67298554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115807766	chr13:67298554-67298555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574483616	chr13:67298561-67298562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540437019	chr13:67298566-67298567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554366418	chr13:67298573-67298574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149158380	chr13:67298589-67298590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556301738	chr13:67298698-67298699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562529916	chr13:67298701-67298702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576073277	chr13:67298715-67298716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541822449	chr13:67298749-67298750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561815101	chr13:67298753-67298754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527808891	chr13:67298758-67298759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546458816	chr13:67298760-67298761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560332785	chr13:67298805-67298806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2146738	chr13:67298870-67298871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552552715	chr13:67298872-67298873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569177020	chr13:67298874-67298875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376625959	chr13:67298914-67298915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143313992	chr13:67299030-67299031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568033986	chr13:67299032-67299033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533915358	chr13:67299060-67299061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2146739	chr13:67299066-67299067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182587099	chr13:67299079-67299080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151297838	chr13:67299085-67299086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556390210	chr13:67299125-67299126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67296200-67298200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:67296400-67298000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:67296400-67303600	Weak transcription	Brain Angular Gyrus	brain
4	chr13:67297200-67298200	Enhancers	Brain Germinal Matrix	brain
5	chr13:67297200-67298600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:67297200-67298600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:67297200-67298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:67297400-67298600	Enhancers	Brain Hippocampus Middle	brain
9	chr13:67297400-67298800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:67297600-67299000	Enhancers	Brain Substantia Nigra	brain
11	chr13:67298000-67298200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:67298200-67298800	Enhancers	Brain Anterior Caudate	brain
13	chr13:67298200-67298800	Enhancers	Brain Cingulate Gyrus	brain
14	chr13:67298200-67300800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:67298600-67298800	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:67298600-67300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:67298600-67300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr13:67298800-67300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:67298800-67300400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:67299000-67300200	Weak transcription	Brain Substantia Nigra	brain
21	chr13:67300200-67300800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:67300400-67300600	Enhancers	Brain Substantia Nigra	brain
23	chr13:67300400-67300800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:67300400-67301000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr13:67300400-67301000	Enhancers	Brain Cingulate Gyrus	brain
26	chr13:67300600-67300800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:67300600-67300800	Enhancers	Brain Hippocampus Middle	brain
28	chr13:67300800-67301200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr13:67300800-67301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:67303600-67303800	Enhancers	Brain Angular Gyrus	brain
31	chr13:67319200-67320000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr13:67319200-67320400	Enhancers	Brain Angular Gyrus	brain
33	chr13:67319200-67320400	Enhancers	Fetal Heart	heart
34	chr13:67319400-67319800	Enhancers	Brain Anterior Caudate	brain
35	chr13:67319400-67320200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:67319400-67320200	Enhancers	Brain Cingulate Gyrus	brain
37	chr13:67319400-67320800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:67319400-67320800	Enhancers	Brain Hippocampus Middle	brain
39	chr13:67319800-67320200	Active TSS	Right Atrium	heart
40	chr13:67319800-67320400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:67324400-67324800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr13:67334800-67335400	ZNF genes & repeats	Aorta	Aorta
43	chr13:67335000-67335400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:67335400-67336200	Weak transcription	Aorta	Aorta
45	chr13:67335800-67336400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr13:67336000-67336800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr13:67336200-67336600	ZNF genes & repeats	Aorta	Aorta
48	chr13:67336200-67336600	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr13:67336200-67336600	Bivalent/Poised TSS	Gastric	stomach
50	chr13:67336400-67339200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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