Variant report

Variant	esv3408314
Chromosome Location	chr13:85835051-85839749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140700878	chr13:85835091-85835092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199799859	chr13:85835150-85835151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557445233	chr13:85835156-85835157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185564013	chr13:85835159-85835160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561744862	chr13:85835207-85835208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145812222	chr13:85835221-85835222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34373741	chr13:85835226-85835227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554703033	chr13:85835228-85835229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79344472	chr13:85835273-85835274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559135543	chr13:85835298-85835299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533206588	chr13:85835314-85835315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566943006	chr13:85835327-85835328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190721357	chr13:85835333-85835334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551595302	chr13:85835402-85835403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80262886	chr13:85835415-85835416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148128821	chr13:85835565-85835566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181644410	chr13:85835580-85835581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141893092	chr13:85835659-85835660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548980209	chr13:85835664-85835665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187615730	chr13:85835734-85835735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191936326	chr13:85835737-85835738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183042387	chr13:85835738-85835739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150218048	chr13:85835795-85835796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538880173	chr13:85835817-85835818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2451428	chr13:85835832-85835833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs72634677	chr13:85835845-85835846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577300948	chr13:85835888-85835889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544244499	chr13:85835890-85835891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112212976	chr13:85835905-85835906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186668306	chr13:85835931-85835932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2479709	chr13:85835965-85835966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189563686	chr13:85835979-85835980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77729000	chr13:85836048-85836049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577798546	chr13:85836054-85836055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545255197	chr13:85836156-85836157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542138451	chr13:85836184-85836185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182587684	chr13:85836204-85836205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200326252	chr13:85836237-85836238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200199614	chr13:85836238-85836239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9547096	chr13:85836241-85836242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10552184	chr13:85836248-85836249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143612792	chr13:85836249-85836250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375243712	chr13:85836255-85836256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559413826	chr13:85836276-85836277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112970427	chr13:85836337-85836338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2451429	chr13:85836338-85836339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11368164	chr13:85836369-85836370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2479710	chr13:85836419-85836420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546661170	chr13:85836434-85836435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371015353	chr13:85836462-85836463	Weak transcription Enhancers	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85835000-85837000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:85835800-85836000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr13:85835800-85836200	Enhancers	Fetal Lung	lung
4	chr13:85836000-85840200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:85836600-85837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:85836600-85837200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:85836800-85837200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:85837000-85840400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:85838800-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:85839000-85840200	Enhancers	NHEK	skin
11	chr13:85839400-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:85839600-85840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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