Variant report

Variant	esv2761798
Chromosome Location	chr13:67285918-67344512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 951 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555561769	chr13:67285922-67285923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572367676	chr13:67286040-67286041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541359461	chr13:67286047-67286048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564116945	chr13:67286063-67286064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533219045	chr13:67286088-67286089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543889555	chr13:67286112-67286113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9571633	chr13:67286120-67286121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138452247	chr13:67286183-67286184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79141140	chr13:67286278-67286279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2209025	chr13:67286315-67286316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568279778	chr13:67286360-67286361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192864957	chr13:67286363-67286364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184901105	chr13:67286398-67286399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552529927	chr13:67286404-67286405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570450601	chr13:67286409-67286410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539020537	chr13:67286487-67286488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143052524	chr13:67286526-67286527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9571634	chr13:67286637-67286638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535551527	chr13:67286644-67286645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115066015	chr13:67286667-67286668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150694862	chr13:67286672-67286673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139437189	chr13:67286673-67286674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558070915	chr13:67286687-67286688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189900808	chr13:67286692-67286693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543407069	chr13:67286710-67286711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9564335	chr13:67286768-67286769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149671649	chr13:67286769-67286770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191160777	chr13:67286825-67286826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376917854	chr13:67286840-67286841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183629109	chr13:67286885-67286886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2146746	chr13:67286937-67286938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73499421	chr13:67286969-67286970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547621155	chr13:67286978-67286979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564175817	chr13:67286998-67286999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373523188	chr13:67287013-67287014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533277332	chr13:67287050-67287051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2146747	chr13:67287060-67287061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145160388	chr13:67287092-67287093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575347175	chr13:67287131-67287132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115243702	chr13:67287187-67287188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548714388	chr13:67287205-67287206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565925914	chr13:67287206-67287207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200648378	chr13:67287264-67287265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9564336	chr13:67287284-67287285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7995575	chr13:67287314-67287315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537766208	chr13:67287317-67287318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114600888	chr13:67287344-67287345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549282552	chr13:67287478-67287479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543143471	chr13:67287480-67287481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35794553	chr13:67287538-67287539	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67275600-67286000	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:67282000-67289000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:67286000-67286200	Enhancers	Brain Hippocampus Middle	brain
4	chr13:67289000-67290800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:67290400-67291000	Enhancers	A549	lung
6	chr13:67290400-67291200	Enhancers	Liver	Liver
7	chr13:67293600-67294200	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:67296000-67296200	Enhancers	Brain Cingulate Gyrus	brain
9	chr13:67296000-67296400	Enhancers	Brain Angular Gyrus	brain
10	chr13:67296000-67296600	Enhancers	Brain Substantia Nigra	brain
11	chr13:67296200-67296400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr13:67296200-67298200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:67296400-67298000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:67296400-67303600	Weak transcription	Brain Angular Gyrus	brain
15	chr13:67296600-67296800	Enhancers	Brain Hippocampus Middle	brain
16	chr13:67296600-67297600	Weak transcription	Brain Substantia Nigra	brain
17	chr13:67296800-67297400	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:67297200-67298200	Enhancers	Brain Germinal Matrix	brain
19	chr13:67297200-67298600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:67297200-67298600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr13:67297200-67298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:67297400-67298600	Enhancers	Brain Hippocampus Middle	brain
23	chr13:67297400-67298800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr13:67297600-67299000	Enhancers	Brain Substantia Nigra	brain
25	chr13:67298000-67298200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr13:67298200-67298800	Enhancers	Brain Anterior Caudate	brain
27	chr13:67298200-67298800	Enhancers	Brain Cingulate Gyrus	brain
28	chr13:67298200-67300800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:67298600-67298800	Weak transcription	Brain Hippocampus Middle	brain
30	chr13:67298600-67300400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:67298600-67300400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr13:67298800-67300200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:67298800-67300400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr13:67299000-67300200	Weak transcription	Brain Substantia Nigra	brain
35	chr13:67300200-67300800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:67300400-67300600	Enhancers	Brain Substantia Nigra	brain
37	chr13:67300400-67300800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:67300400-67301000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr13:67300400-67301000	Enhancers	Brain Cingulate Gyrus	brain
40	chr13:67300600-67300800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:67300600-67300800	Enhancers	Brain Hippocampus Middle	brain
42	chr13:67300800-67301200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr13:67300800-67301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:67303600-67303800	Enhancers	Brain Angular Gyrus	brain
45	chr13:67319200-67320000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr13:67319200-67320400	Enhancers	Brain Angular Gyrus	brain
47	chr13:67319200-67320400	Enhancers	Fetal Heart	heart
48	chr13:67319400-67319800	Enhancers	Brain Anterior Caudate	brain
49	chr13:67319400-67320200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:67319400-67320200	Enhancers	Brain Cingulate Gyrus	brain

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