Variant report

Variant	esv3390158
Chromosome Location	chr3:53932262-53934310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53914533..53916130-chr3:53934096..53936406,2	K562	blood:
2	chr3:53925952..53927469-chr3:53930989..53933385,2	K562	blood:
3	chr3:53925276..53928146-chr3:53932001..53933917,2	MCF-7	breast:
4	chr3:53925688..53927938-chr3:53933192..53934856,2	K562	blood:
5	chr3:53930548..53932140-chr3:53934044..53936810,2	K562	blood:

Variant related genes	Relation type
ENSG00000113811	chromatin interactions
ENSG00000113812	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567796252	chr3:53932272-53932273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs56729512	chr3:53932307-53932308	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150511740	chr3:53932343-53932344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545799837	chr3:53932441-53932442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565724835	chr3:53932488-53932489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138600556	chr3:53932505-53932506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76048008	chr3:53932544-53932545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530294291	chr3:53932558-53932559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577245675	chr3:53932583-53932584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370654204	chr3:53932584-53932585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142762368	chr3:53932588-53932589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35923319	chr3:53932607-53932608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534745822	chr3:53932611-53932612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112920195	chr3:53932696-53932697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530719959	chr3:53932704-53932705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6788168	chr3:53932748-53932749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35669176	chr3:53932764-53932765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367811339	chr3:53932766-53932767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550750253	chr3:53932772-53932773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564617465	chr3:53932784-53932785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6799446	chr3:53932804-53932805	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11706289	chr3:53932862-53932863	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188875670	chr3:53932940-53932941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544727903	chr3:53932948-53932949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536181685	chr3:53932971-53932972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375431561	chr3:53932990-53932991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs56991761	chr3:53933005-53933006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200223767	chr3:53933024-53933025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556589940	chr3:53933027-53933028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs60847970	chr3:53933028-53933029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538334669	chr3:53933029-53933030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112169893	chr3:53933038-53933039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs574934847	chr3:53933072-53933073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368597496	chr3:53933089-53933090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs56047069	chr3:53933090-53933091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs60394414	chr3:53933094-53933095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56233829	chr3:53933096-53933097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs58790608	chr3:53933097-53933098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs55672157	chr3:53933098-53933099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560468575	chr3:53933108-53933109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs67954447	chr3:53933109-53933110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs55763790	chr3:53933110-53933111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546567354	chr3:53933125-53933126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527450191	chr3:53933126-53933127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374693750	chr3:53933127-53933128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13084773	chr3:53933135-53933136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545655451	chr3:53933136-53933137	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369329860	chr3:53933155-53933156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs13084895	chr3:53933157-53933158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60518013	chr3:53933168-53933169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
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
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
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53929800-53933600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:53933600-53935800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr3:53934000-53935200	Enhancers	Rectal Mucosa Donor 29	rectum

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