Variant report

Variant	esv1803890
Chromosome Location	chr3:50966037-50987194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50965494..50967505-chr3:50968785..50971501,2	K562	blood:
2	chr3:50968160..50970692-chr3:50972135..50973895,2	K562	blood:
3	chr3:50979915..50982588-chr3:50988969..50990913,2	K562	blood:
4	chr3:50979924..50980442-chr8:43092410..43092931,4	MCF-7	breast:
5	chr3:50978925..50980444-chr8:43095229..43096751,2	K562	blood:
6	chr3:50968160..50970692-chr3:50972135..50973895,2	K562	blood:
7	chr3:50965494..50967505-chr3:50968785..50971501,2	K562	blood:

Extended variants
information (count: 667 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9989957	chr3:50966037-50966038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73081144	chr3:50966039-50966040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190203436	chr3:50966096-50966097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573191064	chr3:50966117-50966118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61108141	chr3:50966191-50966192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562179040	chr3:50966220-50966221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574152609	chr3:50966225-50966226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12636949	chr3:50966254-50966255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73833949	chr3:50966275-50966276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541298018	chr3:50966302-50966303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369839107	chr3:50966323-50966324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563746201	chr3:50966331-50966332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377501300	chr3:50966334-50966335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371548752	chr3:50966358-50966359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551656743	chr3:50966535-50966536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371597608	chr3:50966573-50966574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574480451	chr3:50966659-50966660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560147111	chr3:50966701-50966702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527300181	chr3:50966753-50966754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138691948	chr3:50966853-50966854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142751292	chr3:50966886-50966887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537586173	chr3:50966903-50966904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549454660	chr3:50966913-50966914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375017689	chr3:50967017-50967018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542557194	chr3:50967126-50967127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539597899	chr3:50967151-50967152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186600423	chr3:50967181-50967182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7623868	chr3:50967228-50967229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190334319	chr3:50967240-50967241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7623976	chr3:50967299-50967300	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574065222	chr3:50967351-50967352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544764395	chr3:50967361-50967362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9311459	chr3:50967377-50967378	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564850326	chr3:50967393-50967394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148766710	chr3:50967410-50967411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543963957	chr3:50967437-50967438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544842769	chr3:50967482-50967483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560422144	chr3:50967505-50967506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141530218	chr3:50967517-50967518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542500070	chr3:50967518-50967519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150897382	chr3:50967526-50967527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115848957	chr3:50967539-50967540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181201919	chr3:50967542-50967543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185472630	chr3:50967558-50967559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189830320	chr3:50967579-50967580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551654174	chr3:50967584-50967585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60298864	chr3:50967633-50967634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567031743	chr3:50967703-50967704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139415590	chr3:50967722-50967723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150072155	chr3:50967775-50967776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50960000-50967800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:50960000-50973000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:50964600-50972600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:50965400-50966600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:50965400-50966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:50965400-50966800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:50965400-50966800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:50965400-50969600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:50966600-50966800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:50966800-50967000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:50966800-50967800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:50966800-50971400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:50967000-50967200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:50967800-50968400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:50968200-50972600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr3:50968400-50973000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50969600-50969800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr3:50969800-50972800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:50970600-50970800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:50971400-50972600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:50971400-50972800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:50972400-50973400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr3:50972600-50972800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
24	chr3:50972600-50973200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:50972600-50973400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr3:50972800-50973200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
27	chr3:50972800-50973200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:50972800-50973200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr3:50972800-50973200	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr3:50972800-50973400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
31	chr3:50972800-50974000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr3:50972800-50974000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:50973000-50973200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:50973000-50973200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:50973200-50974800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:50973200-50979200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:50973200-50983400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:50973400-50973800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:50974000-50991200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:50983400-50983600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:50983400-50984400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:50983600-50987800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:50984400-50987800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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