Variant report

Variant	esv3328011
Chromosome Location	chr1:92015661-92016132
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	chr1:92014689..92016576-chr1:92019750..92022636,2	K562	blood:
2	chr1:92011701..92014706-chr1:92015449..92018915,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557739514	chr1:92015673-92015674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572760979	chr1:92015675-92015676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10622308	chr1:92015676-92015677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386367641	chr1:92015677-92015678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386367642	chr1:92015686-92015687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397693209	chr1:92015687-92015688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114937058	chr1:92015719-92015720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4658227	chr1:92015720-92015721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529034404	chr1:92015724-92015725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369064346	chr1:92015730-92015731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142754090	chr1:92015745-92015746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563622937	chr1:92015762-92015763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35891816	chr1:92015768-92015769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368115591	chr1:92015776-92015777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564883651	chr1:92015849-92015850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527502921	chr1:92015865-92015866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74822199	chr1:92015924-92015925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570838677	chr1:92015934-92015935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113882830	chr1:92015952-92015953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185063612	chr1:92015986-92015987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375903240	chr1:92016028-92016029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114805225	chr1:92016029-92016030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536046759	chr1:92016031-92016032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139154798	chr1:92016073-92016074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540295911	chr1:92016074-92016075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568812616	chr1:92016077-92016078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539530284	chr1:92016085-92016086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187934763	chr1:92016093-92016094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572529566	chr1:92016103-92016104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113976584	chr1:92016124-92016125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92003600-92018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:92006600-92016400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:92010600-92017000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:92011400-92018200	Weak transcription	Right Atrium	heart
5	chr1:92012000-92027400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:92012800-92018800	Weak transcription	Placenta	Placenta
7	chr1:92013600-92017000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:92013800-92018000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:92013800-92018200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:92014200-92018200	Weak transcription	Small Intestine	intestine
11	chr1:92014600-92020000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:92014600-92020400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:92014800-92017000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr1:92014800-92020600	Weak transcription	Fetal Stomach	stomach
15	chr1:92014800-92021400	Weak transcription	Fetal Heart	heart
16	chr1:92014800-92028000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr1:92015000-92016400	Weak transcription	GM12878-XiMat	blood
18	chr1:92015000-92018200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:92015000-92018800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:92015000-92025600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:92015200-92018400	Weak transcription	Spleen	Spleen
22	chr1:92015200-92020400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:92015200-92020600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:92015200-92027800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:92015400-92017200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:92015400-92017200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:92015600-92016600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:92015600-92019800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:92015600-92020000	Weak transcription	Primary T cells from cord blood	blood
30	chr1:92015600-92020600	Weak transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links