Variant report

Variant	esv3394209
Chromosome Location	chr13:69517000-69543360
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	chr13:69514136..69516850-chr13:69517321..69519328,2	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9592587	chr13:69533621-69533622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76977943	chr13:69533702-69533703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562357197	chr13:69533780-69533781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201625653	chr13:69533781-69533782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562619471	chr13:69533788-69533789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573954918	chr13:69533837-69533838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373602127	chr13:69533838-69533839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9592588	chr13:69533844-69533845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567876382	chr13:69533845-69533846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371592207	chr13:69533853-69533854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189080886	chr13:69533873-69533874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562768385	chr13:69533892-69533893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370536890	chr13:69533899-69533900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547238842	chr13:69533914-69533915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1890977	chr13:69533915-69533916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538792668	chr13:69533979-69533980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9592589	chr13:69534039-69534040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372477495	chr13:69534071-69534072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558878123	chr13:69534072-69534073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9592590	chr13:69534086-69534087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74092919	chr13:69534106-69534107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538484240	chr13:69534107-69534108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529943681	chr13:69534149-69534150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9599364	chr13:69534176-69534177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577792540	chr13:69534182-69534183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368293564	chr13:69534198-69534199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9592591	chr13:69534212-69534213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527984677	chr13:69534221-69534222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376267003	chr13:69534247-69534248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192121032	chr13:69534251-69534252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540806190	chr13:69534266-69534267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545916347	chr13:69534289-69534290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560700696	chr13:69534306-69534307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576836151	chr13:69534317-69534318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79000149	chr13:69534320-69534321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67488923	chr13:69534321-69534322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398023254	chr13:69534338-69534339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201250492	chr13:69534340-69534341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61950982	chr13:69534341-69534342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9572054	chr13:69534346-69534347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148299624	chr13:69534365-69534366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2325224	chr13:69534368-69534369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9572055	chr13:69534372-69534373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59042972	chr13:69534375-69534376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375900007	chr13:69534467-69534468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139413907	chr13:69534493-69534494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576012948	chr13:69534549-69534550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114573998	chr13:69534620-69534621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200210812	chr13:69534629-69534630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564820332	chr13:69534634-69534635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69533600-69533800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr13:69533800-69534800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:69534400-69535200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:69534800-69535400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:69540800-69541200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:69541200-69541600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:69541400-69542400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:69541600-69541800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr13:69541600-69543400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:69541800-69542000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:69541800-69542400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:69541800-69542400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:69541800-69544000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:69542000-69543800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:69542400-69543800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:69542400-69543800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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