Variant report

Variant	esv1826146
Chromosome Location	chr13:69494334-69530750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:68878193..68879007-chr13:69501325..69502164,3	MCF-7	breast:
2	chr13:69514136..69516850-chr13:69517321..69519328,2	K562	blood:
3	chr13:69514136..69516850-chr13:69517321..69519328,2	K562	blood:
4	chr13:68308872..68310810-chr13:69501547..69503078,2	MCF-7	breast:

Extended variants
information (count: 284 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113259510	chr13:69499881-69499882	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560025429	chr13:69499897-69499898	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559339512	chr13:69499980-69499981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs202190146	chr13:69500044-69500045	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12876615	chr13:69500045-69500046	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs72037088	chr13:69500046-69500047	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs9541633	chr13:69500047-69500048	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61948746	chr13:69500049-69500050	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540830391	chr13:69500051-69500052	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs192733292	chr13:69500059-69500060	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs71214499	chr13:69500066-69500067	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532937609	chr13:69500087-69500088	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545214179	chr13:69500190-69500191	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs573252096	chr13:69500200-69500201	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373062991	chr13:69500205-69500206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564589429	chr13:69500245-69500246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530515161	chr13:69500251-69500252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141060552	chr13:69500276-69500277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569931662	chr13:69500324-69500325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9599354	chr13:69500408-69500409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61308423	chr13:69500517-69500518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397978494	chr13:69500525-69500526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9317749	chr13:69500532-69500533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34150098	chr13:69500548-69500549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529720983	chr13:69500572-69500573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140965776	chr13:69500595-69500596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558694690	chr13:69500617-69500618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532300392	chr13:69500626-69500627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566774001	chr13:69500651-69500652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9317750	chr13:69500672-69500673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552405235	chr13:69500700-69500701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553190935	chr13:69500727-69500728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569120951	chr13:69500735-69500736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184707865	chr13:69500753-69500754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557466518	chr13:69500782-69500783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35017156	chr13:69500801-69500802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8000608	chr13:69500802-69500803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553552739	chr13:69500806-69500807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188157982	chr13:69500920-69500921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573202377	chr13:69500962-69500963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180825263	chr13:69500976-69500977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530040258	chr13:69501050-69501051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12100045	chr13:69501085-69501086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575464334	chr13:69501107-69501108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71811290	chr13:69501108-69501109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543949823	chr13:69501171-69501172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561059724	chr13:69501178-69501179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12863022	chr13:69501185-69501186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143488176	chr13:69501212-69501213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184845540	chr13:69501278-69501279	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69499800-69500200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:69499800-69500200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr13:69500200-69503600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr13:69503600-69504200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:69512800-69515200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:69513200-69514400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:69513200-69514600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:69513200-69515000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:69513600-69514600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:69513800-69514600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:69514000-69514600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:69514000-69514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:69514400-69514800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:69516400-69516600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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