Variant report

Variant	esv3322203
Chromosome Location	chr1:85023764-85024912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85022443..85024942-chr1:85030020..85032118,2	K562	blood:
2	chr1:85016872..85022565-chr1:85023901..85028271,6	K562	blood:
3	chr1:85022443..85025192-chr1:85030374..85032118,2	K562	blood:
4	chr1:85022039..85024410-chr1:85033279..85035496,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528891621	chr1:85023876-85023877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529747185	chr1:85023881-85023882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182702261	chr1:85023904-85023905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566456902	chr1:85023929-85023930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117661121	chr1:85023955-85023956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552207612	chr1:85023965-85023966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113789855	chr1:85023967-85023968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538182186	chr1:85023973-85023974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369890996	chr1:85023977-85023978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76061570	chr1:85023990-85023991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554465525	chr1:85024024-85024025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568274991	chr1:85024034-85024035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373698274	chr1:85024042-85024043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367840639	chr1:85024058-85024059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536333271	chr1:85024094-85024095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553396759	chr1:85024097-85024098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371659113	chr1:85024098-85024099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573023401	chr1:85024119-85024120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544953508	chr1:85024127-85024128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558536479	chr1:85024128-85024129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542671820	chr1:85024176-85024177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544934461	chr1:85024196-85024197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376225614	chr1:85024221-85024222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546419094	chr1:85024226-85024227	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111231943	chr1:85024262-85024263	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112293082	chr1:85024288-85024289	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs555315665	chr1:85024322-85024323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560246101	chr1:85024401-85024402	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532256418	chr1:85024415-85024416	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149770160	chr1:85024451-85024452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs7530632	chr1:85024456-85024457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549071973	chr1:85024457-85024458	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187475665	chr1:85024510-85024511	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548499085	chr1:85024534-85024535	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs111251107	chr1:85024561-85024562	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145722145	chr1:85024610-85024611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191115820	chr1:85024611-85024612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114473705	chr1:85024652-85024653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566585290	chr1:85024655-85024656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183783413	chr1:85024683-85024684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189190773	chr1:85024690-85024691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72950339	chr1:85024749-85024750	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575261864	chr1:85024779-85024780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192882026	chr1:85024809-85024810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559474949	chr1:85024861-85024862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:84991000-85034200	Weak transcription	Esophagus	oesophagus
4	chr1:84991000-85038200	Weak transcription	Thymus	Thymus
5	chr1:84991800-85026800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:84992200-85026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:84993200-85025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:84993400-85025800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:84993400-85027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:84993600-85026800	Weak transcription	HSMM	muscle
12	chr1:84994000-85026600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:84995000-85028600	Weak transcription	Fetal Intestine Large	intestine
14	chr1:84998600-85038800	Weak transcription	Right Ventricle	heart
15	chr1:85000800-85027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:85001400-85036400	Weak transcription	NH-A	brain
17	chr1:85001600-85033600	Weak transcription	NHLF	lung
18	chr1:85001800-85026600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:85001800-85028600	Weak transcription	Fetal Thymus	thymus
20	chr1:85002000-85038400	Weak transcription	Aorta	Aorta
21	chr1:85002200-85027600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:85002200-85034200	Weak transcription	Lung	lung
23	chr1:85003000-85027800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:85003800-85026000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:85003800-85033600	Weak transcription	Left Ventricle	heart
26	chr1:85004000-85036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:85005200-85035000	Weak transcription	Pancreas	Pancrea
28	chr1:85006200-85027800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:85006200-85034600	Weak transcription	Ovary	ovary
30	chr1:85006200-85034800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:85006400-85034400	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:85006600-85038600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:85006800-85027000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:85007000-85024600	Weak transcription	Osteobl	bone
35	chr1:85007000-85024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:85007200-85027200	Weak transcription	Fetal Lung	lung
37	chr1:85007200-85038600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:85007400-85027800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:85007600-85026400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:85008600-85024400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:85008800-85039000	Weak transcription	Fetal Brain Male	brain
42	chr1:85009400-85037000	Weak transcription	HUVEC	blood vessel
43	chr1:85012800-85027000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:85013200-85027600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:85014800-85039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:85015200-85025000	Weak transcription	Fetal Stomach	stomach
47	chr1:85016600-85036400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:85017400-85036400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:85017400-85039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:85018200-85027200	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links