Variant report

Variant	esv2466284
Chromosome Location	chr13:69273685-69275179
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	chr13:69269070..69271450-chr13:69274161..69276898,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371078947	chr13:69273700-69273701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190990677	chr13:69273703-69273704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35018769	chr13:69273722-69273723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565363683	chr13:69273732-69273733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575814607	chr13:69273784-69273785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544364841	chr13:69273787-69273788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73206174	chr13:69273788-69273789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530281661	chr13:69273826-69273827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539888110	chr13:69273839-69273840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200123448	chr13:69273885-69273886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560079901	chr13:69273890-69273891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374542584	chr13:69273902-69273903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532135621	chr13:69273918-69273919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368913358	chr13:69273960-69273961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34927586	chr13:69274082-69274083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552272398	chr13:69274084-69274085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568826572	chr13:69274140-69274141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181741904	chr13:69274199-69274200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548360760	chr13:69274223-69274224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568413504	chr13:69274233-69274234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186539015	chr13:69274243-69274244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148105076	chr13:69274264-69274265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566834850	chr13:69274307-69274308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78595241	chr13:69274318-69274319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538625699	chr13:69274342-69274343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559420610	chr13:69274357-69274358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191469565	chr13:69274358-69274359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140762857	chr13:69274363-69274364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182837345	chr13:69274372-69274373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575292834	chr13:69274479-69274480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9317719	chr13:69274510-69274511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187961537	chr13:69274518-69274519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190894762	chr13:69274526-69274527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566804052	chr13:69274529-69274530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145085343	chr13:69274534-69274535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138961737	chr13:69274585-69274586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560597036	chr13:69274718-69274719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532150665	chr13:69274725-69274726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545443460	chr13:69274735-69274736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558559071	chr13:69274739-69274740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562608252	chr13:69274765-69274766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142289460	chr13:69274777-69274778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548448427	chr13:69274786-69274787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374976137	chr13:69274822-69274823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9541503	chr13:69274847-69274848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182153517	chr13:69274910-69274911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187917305	chr13:69274947-69274948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570618779	chr13:69274950-69274951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192481759	chr13:69274980-69274981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558631569	chr13:69275019-69275020	Weak transcription ZNF genes & repeats	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69262600-69282600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:69272000-69275000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:69275000-69275400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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