Variant report

Variant	esv2496441
Chromosome Location	chr3:43030917-43032274
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	chr3:43032109..43034625-chr3:43036764..43039846,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368122201	chr3:43030950-43030951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550119559	chr3:43030974-43030975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569963933	chr3:43030995-43030996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527442075	chr3:43030999-43031000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535877714	chr3:43031026-43031027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545893817	chr3:43031055-43031056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555419830	chr3:43031097-43031098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565882911	chr3:43031101-43031102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200055214	chr3:43031107-43031108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201212611	chr3:43031108-43031109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201701526	chr3:43031109-43031110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199673902	chr3:43031111-43031112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112460208	chr3:43031112-43031113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112249438	chr3:43031113-43031114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371889394	chr3:43031210-43031211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534500393	chr3:43031253-43031254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557543101	chr3:43031254-43031255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201998253	chr3:43031418-43031419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188813868	chr3:43031420-43031421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577824414	chr3:43031429-43031430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543376264	chr3:43031459-43031460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150581535	chr3:43031472-43031473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140588007	chr3:43031480-43031481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542689899	chr3:43031481-43031482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115020613	chr3:43031498-43031499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564287056	chr3:43031528-43031529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374438530	chr3:43031568-43031569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368505163	chr3:43031572-43031573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372108248	chr3:43031586-43031587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376466052	chr3:43031587-43031588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369365808	chr3:43031591-43031592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371998138	chr3:43031593-43031594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138461582	chr3:43031626-43031627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555514027	chr3:43031632-43031633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552679525	chr3:43031639-43031640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370820859	chr3:43031674-43031675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376904552	chr3:43031675-43031676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62249014	chr3:43031678-43031679	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs533641208	chr3:43031713-43031714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550193915	chr3:43031772-43031773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569087920	chr3:43031814-43031815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191561887	chr3:43031828-43031829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6792817	chr3:43031835-43031836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs549007474	chr3:43031854-43031855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74270677	chr3:43031855-43031856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55702394	chr3:43031878-43031879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372791606	chr3:43031888-43031889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2965053	chr3:43031923-43031924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs834178	chr3:43031941-43031942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs6783218	chr3:43031952-43031953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:87)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
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
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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43022000-43033000	Weak transcription	Pancreas	Pancrea
2	chr3:43022000-43037000	Weak transcription	Right Atrium	heart
3	chr3:43022200-43032800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:43023000-43037800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:43026600-43032000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:43026600-43032400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:43026600-43032800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:43026800-43032400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:43027000-43033200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:43027200-43032800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:43027400-43032200	Weak transcription	Fetal Thymus	thymus
12	chr3:43029600-43031600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:43029800-43033200	Weak transcription	Esophagus	oesophagus
14	chr3:43030000-43032400	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:43030200-43032000	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:43030400-43031000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:43030400-43032200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:43030400-43032200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:43030400-43032400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:43030400-43032400	Weak transcription	Brain Angular Gyrus	brain
21	chr3:43030400-43032600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:43030400-43033000	Weak transcription	Ovary	ovary
23	chr3:43030400-43033600	Weak transcription	Adipose Nuclei	Adipose
24	chr3:43030600-43033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:43030600-43033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:43030800-43031200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:43030800-43032200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:43030800-43032200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:43030800-43032200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:43030800-43032200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:43030800-43032400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr3:43030800-43032800	Weak transcription	Brain Substantia Nigra	brain
33	chr3:43030800-43037800	Weak transcription	Liver	Liver
34	chr3:43031000-43032000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:43031200-43034200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:43031600-43032800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:43032000-43034000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:43032000-43034200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:43032000-43034400	Enhancers	Brain Hippocampus Middle	brain
40	chr3:43032200-43032400	Enhancers	Fetal Thymus	thymus
41	chr3:43032200-43034000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:43032200-43034000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:43032200-43034000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:43032200-43034000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:43032200-43034200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:43032200-43034200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:43032200-43034200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:43032200-43034400	Enhancers	Brain Anterior Caudate	brain

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