Variant report

Variant	esv3514262
Chromosome Location	chr13:85712822-85713986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4576965	chr13:85712858-85712859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544513556	chr13:85712879-85712880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562591612	chr13:85712880-85712881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574783805	chr13:85712881-85712882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541859443	chr13:85713005-85713006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560109329	chr13:85713009-85713010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532125950	chr13:85713016-85713017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555208142	chr13:85713039-85713040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527807694	chr13:85713041-85713042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9575784	chr13:85713087-85713088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185572118	chr13:85713104-85713105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531783589	chr13:85713116-85713117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550453677	chr13:85713141-85713142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568747764	chr13:85713154-85713155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368406555	chr13:85713167-85713168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568621176	chr13:85713234-85713235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545758301	chr13:85713243-85713244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137880539	chr13:85713292-85713293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548255990	chr13:85713349-85713350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201508629	chr13:85713366-85713367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199526653	chr13:85713369-85713370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200523763	chr13:85713370-85713371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368198315	chr13:85713377-85713378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142279777	chr13:85713411-85713412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533911628	chr13:85713435-85713436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558338748	chr13:85713447-85713448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146390491	chr13:85713484-85713485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548290359	chr13:85713511-85713512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537601389	chr13:85713609-85713610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139729471	chr13:85713632-85713633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574688019	chr13:85713640-85713641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188895883	chr13:85713678-85713679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553791875	chr13:85713681-85713682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572068216	chr13:85713698-85713699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192383810	chr13:85713703-85713704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564395565	chr13:85713728-85713729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531947862	chr13:85713732-85713733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17079346	chr13:85713772-85713773	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562284965	chr13:85713799-85713800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9593988	chr13:85713800-85713801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548098859	chr13:85713818-85713819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553344586	chr13:85713826-85713827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566480977	chr13:85713871-85713872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527254166	chr13:85713873-85713874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85712000-85714000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:85712200-85713800	Weak transcription	NHEK	skin
3	chr13:85712600-85713600	Weak transcription	HMEC	breast
4	chr13:85713600-85714000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:85713600-85714000	Enhancers	Esophagus	oesophagus
6	chr13:85713600-85715000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:85713600-85715000	Enhancers	HMEC	breast
8	chr13:85713600-85715800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr13:85713600-85715800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:85713600-85715800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:85713800-85714400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:85713800-85714800	Enhancers	NHEK	skin
13	chr13:85713800-85715800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:85713800-85716200	Enhancers	HUES48 Cell Line	embryonic stem cell

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