Variant report

Variant	esv1802956
Chromosome Location	chr13:85800853-85808125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 281 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:281 , 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	rs12874993	chr13:85800853-85800854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7326121	chr13:85800871-85800872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191995851	chr13:85800923-85800924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563830126	chr13:85800956-85800957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370300667	chr13:85800974-85800975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140721357	chr13:85800975-85800976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145848691	chr13:85801030-85801031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138448422	chr13:85801046-85801047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566947741	chr13:85801087-85801088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142945999	chr13:85801102-85801103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552539263	chr13:85801114-85801115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150649965	chr13:85801173-85801174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373809122	chr13:85801192-85801193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538677883	chr13:85801193-85801194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138782559	chr13:85801205-85801206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558683536	chr13:85801225-85801226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576923823	chr13:85801268-85801269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115161593	chr13:85801329-85801330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577044891	chr13:85801367-85801368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149369304	chr13:85801486-85801487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144684314	chr13:85801492-85801493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373516180	chr13:85801513-85801514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17079473	chr13:85801542-85801543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540671683	chr13:85801580-85801581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11839954	chr13:85801593-85801594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532503435	chr13:85801649-85801650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530491942	chr13:85801658-85801659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551014063	chr13:85801728-85801729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562958245	chr13:85801730-85801731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530290035	chr13:85801779-85801780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184978586	chr13:85801784-85801785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566862301	chr13:85801807-85801808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534216756	chr13:85801890-85801891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546189146	chr13:85801907-85801908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74728436	chr13:85801980-85801981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538370006	chr13:85801988-85801989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374857029	chr13:85802072-85802073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145322185	chr13:85802121-85802122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541544981	chr13:85802171-85802172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147216580	chr13:85802192-85802193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536481502	chr13:85802208-85802209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7491493	chr13:85802224-85802225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575814089	chr13:85802258-85802259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187783175	chr13:85802272-85802273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573222529	chr13:85802294-85802295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540486826	chr13:85802377-85802378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559003032	chr13:85802395-85802396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368251122	chr13:85802398-85802399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7997337	chr13:85802402-85802403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575996286	chr13:85802447-85802448	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85798000-85804200	Weak transcription	Fetal Stomach	stomach
2	chr13:85798800-85803600	Weak transcription	Fetal Lung	lung
3	chr13:85803600-85804200	Enhancers	Fetal Lung	lung
4	chr13:85804200-85804600	Weak transcription	Fetal Lung	lung
5	chr13:85804200-85805000	Enhancers	Fetal Stomach	stomach
6	chr13:85804600-85804800	Enhancers	Fetal Lung	lung
7	chr13:85804600-85805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:85804800-85805200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:85804800-85805200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:85804800-85805200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:85804800-85805200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr13:85804800-85805200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:85804800-85805200	Active TSS	Brain Anterior Caudate	brain
14	chr13:85804800-85805200	Active TSS	Brain Substantia Nigra	brain
15	chr13:85804800-85805200	Active TSS	Fetal Kidney	kidney
16	chr13:85804800-85805200	Flanking Active TSS	Fetal Lung	lung
17	chr13:85804800-85805200	Enhancers	NHLF	lung
18	chr13:85805000-85805200	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:85805000-85805200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr13:85805200-85810600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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