Variant report

Variant	esv2108639
Chromosome Location	chr1:76743050-76743487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76741346..76744130-chr1:76749152..76752097,2	K562	blood:
2	chr1:76741759..76743474-chr1:76745342..76747848,2	K562	blood:
3	chr1:76739718..76741247-chr1:76741551..76743104,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77176956	chr1:76743052-76743053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537967603	chr1:76743125-76743126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79174278	chr1:76743175-76743176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527602951	chr1:76743183-76743184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370795804	chr1:76743214-76743215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541777124	chr1:76743215-76743216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181411526	chr1:76743232-76743233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186322011	chr1:76743234-76743235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189648706	chr1:76743236-76743237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547257513	chr1:76743244-76743245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567564027	chr1:76743246-76743247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199964034	chr1:76743252-76743253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556702579	chr1:76743253-76743254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373731545	chr1:76743276-76743277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12058462	chr1:76743281-76743282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11162108	chr1:76743282-76743283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12058465	chr1:76743289-76743290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12731299	chr1:76743290-76743291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145827925	chr1:76743291-76743292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12731300	chr1:76743292-76743293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374391964	chr1:76743297-76743298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11582274	chr1:76743298-76743299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11582275	chr1:76743300-76743301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74089816	chr1:76743304-76743305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200054620	chr1:76743311-76743312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11162109	chr1:76743320-76743321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549905562	chr1:76743324-76743325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532858741	chr1:76743353-76743354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371834373	chr1:76743379-76743380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180766689	chr1:76743420-76743421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11162110	chr1:76743444-76743445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76727400-76744800	Weak transcription	Aorta	Aorta
2	chr1:76735000-76743400	Weak transcription	Fetal Kidney	kidney
3	chr1:76735200-76744600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:76735200-76745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76735400-76744200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
7	chr1:76736400-76744400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:76736600-76745000	Weak transcription	Right Atrium	heart
9	chr1:76739600-76749200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:76740800-76744600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:76740800-76744600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:76741400-76744600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:76743400-76743600	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links