Variant report

Variant	esv3365001
Chromosome Location	chr1:67462414-67464512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67461406..67464362-chr1:67614424..67616124,2	K562	blood:
2	chr1:67461444..67462560-chr1:67614576..67615470,12	K562	blood:
3	chr1:67462933..67465892-chr1:67469439..67471276,2	K562	blood:
4	chr1:67461442..67462591-chr1:67614219..67615531,23	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544853244	chr1:67462433-67462434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565044020	chr1:67462550-67462551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12041835	chr1:67462630-67462631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527599719	chr1:67462732-67462733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369876483	chr1:67462914-67462915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547671349	chr1:67462950-67462951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561267162	chr1:67462954-67462955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530035379	chr1:67462962-67462963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550288244	chr1:67462972-67462973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541275324	chr1:67462984-67462985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532735924	chr1:67463017-67463018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183172452	chr1:67463023-67463024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539097559	chr1:67463056-67463057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66478764	chr1:67463071-67463072	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574675324	chr1:67463111-67463112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565897314	chr1:67463119-67463120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534990158	chr1:67463120-67463121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554840193	chr1:67463149-67463150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543179625	chr1:67463158-67463159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372647543	chr1:67463200-67463201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35484434	chr1:67463201-67463202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35571347	chr1:67463202-67463203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373536408	chr1:67463203-67463204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34680926	chr1:67463212-67463213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71058489	chr1:67463221-67463222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140400285	chr1:67463381-67463382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202011750	chr1:67463383-67463384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150384554	chr1:67463384-67463385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200141380	chr1:67463385-67463386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12138863	chr1:67463409-67463410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115356263	chr1:67463429-67463430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6668708	chr1:67463455-67463456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535857846	chr1:67463471-67463472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556251418	chr1:67463489-67463490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200242213	chr1:67463508-67463509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10889651	chr1:67463513-67463514	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs545052725	chr1:67463547-67463548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144443920	chr1:67463602-67463603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187313445	chr1:67463638-67463639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541381536	chr1:67463653-67463654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77283738	chr1:67463687-67463688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530140545	chr1:67463688-67463689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190586835	chr1:67463689-67463690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563667367	chr1:67463718-67463719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148422596	chr1:67463740-67463741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141699015	chr1:67463796-67463797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36098844	chr1:67463797-67463798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373375620	chr1:67463914-67463915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565236495	chr1:67463936-67463937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113171779	chr1:67463963-67463964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
2	chr1:67420600-67467000	Weak transcription	Gastric	stomach
3	chr1:67432000-67465600	Weak transcription	Pancreas	Pancrea
4	chr1:67432000-67468600	Weak transcription	Lung	lung
5	chr1:67441600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:67443400-67466800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:67445400-67483800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:67447200-67467400	Weak transcription	Stomach Mucosa	stomach
9	chr1:67447600-67466200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:67447600-67466600	Weak transcription	Psoas Muscle	Psoas
11	chr1:67447600-67470200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:67448000-67470800	Weak transcription	Brain Angular Gyrus	brain
13	chr1:67448800-67466800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:67448800-67468600	Weak transcription	HSMMtube	muscle
15	chr1:67448800-67470800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:67448800-67484200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:67449200-67467400	Weak transcription	Fetal Brain Female	brain
18	chr1:67449400-67467000	Weak transcription	K562	blood
19	chr1:67449400-67501800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:67449800-67475600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:67450600-67464600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:67450600-67485200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:67450800-67470600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:67451000-67467600	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:67451200-67506200	Weak transcription	Hela-S3	cervix
26	chr1:67452400-67468400	Weak transcription	NHLF	lung
27	chr1:67452800-67471200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:67453000-67464600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:67453200-67473200	Weak transcription	Colonic Mucosa	Colon
30	chr1:67453200-67484000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:67454000-67463800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:67454800-67483200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:67454800-67484200	Weak transcription	NHDF-Ad	bronchial
34	chr1:67455000-67467000	Weak transcription	Fetal Kidney	kidney
35	chr1:67455000-67484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:67455000-67484200	Weak transcription	GM12878-XiMat	blood
37	chr1:67455200-67464200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:67455200-67464400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:67455200-67464600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:67455200-67467800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:67455200-67495000	Weak transcription	Small Intestine	intestine
42	chr1:67455400-67465800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:67455400-67468800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:67455400-67509400	Weak transcription	Spleen	Spleen
45	chr1:67455600-67467000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:67455600-67468600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:67455600-67484200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:67455800-67463800	Weak transcription	Osteobl	bone
49	chr1:67455800-67464200	Weak transcription	Primary B cells from cord blood	blood
50	chr1:67455800-67478200	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links