Variant report

Variant	esv3333426
Chromosome Location	chr13:70035651-70037749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74090581	chr13:70035674-70035675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556055944	chr13:70035676-70035677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17609565	chr13:70035690-70035691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537981336	chr13:70035742-70035743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553738526	chr13:70035781-70035782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9317819	chr13:70035782-70035783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141344604	chr13:70035809-70035810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540213244	chr13:70035825-70035826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192751524	chr13:70035886-70035887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148550334	chr13:70035899-70035900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372878105	chr13:70035900-70035901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577434509	chr13:70035906-70035907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546402009	chr13:70035934-70035935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563105160	chr13:70035970-70035971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17609640	chr13:70035994-70035995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541987195	chr13:70036065-70036066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561764220	chr13:70036066-70036067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17085123	chr13:70036080-70036081	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543483380	chr13:70036087-70036088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74090582	chr13:70036181-70036182	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570745955	chr13:70036186-70036187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533102835	chr13:70036187-70036188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550031850	chr13:70036197-70036198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529226578	chr13:70036202-70036203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569553537	chr13:70036211-70036212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535266121	chr13:70036218-70036219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548113618	chr13:70036224-70036225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554644064	chr13:70036231-70036232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532496792	chr13:70036242-70036243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59670522	chr13:70036245-70036246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144125165	chr13:70036246-70036247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184747012	chr13:70036252-70036253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534217155	chr13:70036254-70036255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553855064	chr13:70036258-70036259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551980637	chr13:70036333-70036334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529916059	chr13:70036445-70036446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577148650	chr13:70036455-70036456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187716112	chr13:70036478-70036479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371750879	chr13:70036495-70036496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111409401	chr13:70036516-70036517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187119	chr13:70036544-70036545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576758008	chr13:70036649-70036650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2782447	chr13:70036687-70036688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142497245	chr13:70036690-70036691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79367573	chr13:70036716-70036717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77222768	chr13:70036720-70036721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542395443	chr13:70036777-70036778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76816928	chr13:70036778-70036779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150625206	chr13:70036802-70036803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138681311	chr13:70036861-70036862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70031600-70037000	Enhancers	Brain Germinal Matrix	brain
2	chr13:70032800-70036200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:70033000-70036400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:70035200-70036000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:70035200-70036200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:70035200-70036200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:70035400-70035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:70035400-70035800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr13:70035400-70035800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:70035400-70035800	Enhancers	Fetal Brain Male	brain
11	chr13:70035400-70035800	Enhancers	Fetal Brain Female	brain
12	chr13:70035400-70035800	Enhancers	Fetal Lung	lung
13	chr13:70035400-70036000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:70035400-70036000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:70035400-70036000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:70035400-70036400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:70036400-70036800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr13:70036400-70037000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr13:70036800-70037200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:70037000-70037200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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