Variant report

Variant	esv3405945
Chromosome Location	chr13:80081201-80082249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80053689..80055771-chr13:80081076..80082958,2	K562	blood:

Variant related genes	Relation type
ENSG00000102471	chromatin interactions
ENSG00000232132	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184903428	chr13:80081208-80081209	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs528480474	chr13:80081236-80081237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548160549	chr13:80081257-80081258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571212430	chr13:80081268-80081269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371999065	chr13:80081281-80081282	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73551569	chr13:80081314-80081315	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7491371	chr13:80081325-80081326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192345236	chr13:80081348-80081349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182070891	chr13:80081384-80081385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79483150	chr13:80081408-80081409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77790441	chr13:80081409-80081410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199939286	chr13:80081412-80081413	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200893486	chr13:80081414-80081415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs371077211	chr13:80081417-80081418	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs200188857	chr13:80081490-80081491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201097336	chr13:80081512-80081513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538420528	chr13:80081645-80081646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539997393	chr13:80081706-80081707	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552003810	chr13:80081707-80081708	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565766957	chr13:80081708-80081709	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11842488	chr13:80081761-80081762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142636998	chr13:80081896-80081897	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554602255	chr13:80081906-80081907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs73551570	chr13:80081915-80081916	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144224251	chr13:80081927-80081928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557172533	chr13:80081971-80081972	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs59105864	chr13:80081980-80081981	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187167473	chr13:80082017-80082018	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553082560	chr13:80082048-80082049	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148750806	chr13:80082121-80082122	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541865361	chr13:80082163-80082164	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536015473	chr13:80082229-80082230	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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	21098271	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
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
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
Hodgkin''s lymphoma	18641027	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
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:80066800-80084000	Weak transcription	Pancreas	Pancrea
3	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
4	chr13:80067200-80095000	Weak transcription	HSMM	muscle
5	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
7	chr13:80076200-80082600	Weak transcription	Osteobl	bone
8	chr13:80076200-80093200	Weak transcription	HMEC	breast
9	chr13:80077600-80088800	Weak transcription	Brain Angular Gyrus	brain
10	chr13:80077600-80095600	Weak transcription	Fetal Intestine Large	intestine
11	chr13:80077800-80082600	Weak transcription	Small Intestine	intestine
12	chr13:80077800-80082800	Weak transcription	Right Atrium	heart
13	chr13:80077800-80089000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:80078000-80082400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:80078000-80097200	Weak transcription	Psoas Muscle	Psoas
16	chr13:80078000-80097800	Weak transcription	Ovary	ovary
17	chr13:80078200-80082400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:80078200-80082600	Weak transcription	Stomach Mucosa	stomach
19	chr13:80078200-80088600	Weak transcription	Fetal Heart	heart
20	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
21	chr13:80078800-80085800	Enhancers	Dnd41	blood
22	chr13:80079600-80086600	Weak transcription	Gastric	stomach
23	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:80079800-80082600	Weak transcription	Left Ventricle	heart
25	chr13:80080000-80082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:80080400-80082400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:80080600-80082400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:80080800-80081400	Enhancers	NHEK	skin
29	chr13:80080800-80082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:80081200-80082600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:80081400-80082000	Weak transcription	NHEK	skin
32	chr13:80082000-80082400	Active TSS	NHEK	skin
33	chr13:80082200-80082600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr13:80082200-80082600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:80082200-80083000	Enhancers	HUVEC	blood vessel
36	chr13:80082200-80083000	Enhancers	NH-A	brain
37	chr13:80082200-80083200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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