Variant report

Variant	esv3404847
Chromosome Location	chr13:69639751-69644349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 186 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538160040	chr13:69639754-69639755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540918680	chr13:69639777-69639778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560816632	chr13:69639808-69639809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184676658	chr13:69639838-69639839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189078940	chr13:69639850-69639851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145321736	chr13:69639854-69639855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148798740	chr13:69639873-69639874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543856717	chr13:69639888-69639889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567705302	chr13:69639905-69639906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568327560	chr13:69639914-69639915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143862786	chr13:69639916-69639917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12855150	chr13:69639939-69639940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146499751	chr13:69639983-69639984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542324274	chr13:69640017-69640018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117148570	chr13:69640027-69640028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539501461	chr13:69640034-69640035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77913593	chr13:69640043-69640044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563633393	chr13:69640096-69640097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371728035	chr13:69640138-69640139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117435558	chr13:69640152-69640153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529460541	chr13:69640164-69640165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575996193	chr13:69640180-69640181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144453479	chr13:69640242-69640243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369733914	chr13:69640282-69640283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555142545	chr13:69640295-69640296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543399175	chr13:69640381-69640382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574885730	chr13:69640410-69640411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540637520	chr13:69640462-69640463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560729320	chr13:69640482-69640483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9529503	chr13:69640495-69640496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574270061	chr13:69640527-69640528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546205846	chr13:69640541-69640542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563080294	chr13:69640543-69640544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531849025	chr13:69640551-69640552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548261282	chr13:69640560-69640561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541301270	chr13:69640563-69640564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561450449	chr13:69640602-69640603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527252881	chr13:69640603-69640604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547667498	chr13:69640617-69640618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547003159	chr13:69640707-69640708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570384442	chr13:69640726-69640727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539698438	chr13:69640760-69640761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78709816	chr13:69640761-69640762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1415050	chr13:69640775-69640776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs61954270	chr13:69640784-69640785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564086531	chr13:69640791-69640792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181603760	chr13:69640824-69640825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184210760	chr13:69640826-69640827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373832792	chr13:69640839-69640840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534150352	chr13:69640874-69640875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69638800-69643800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:69638800-69643800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:69639000-69643800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:69639000-69643800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:69639400-69640800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:69640800-69644000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:69643600-69644200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:69643800-69644200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:69643800-69644200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:69643800-69644200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr13:69643800-69644400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:69643800-69644400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:69644000-69644400	Enhancers	HUES64 Cell Line	embryonic stem cell

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