Variant report

Variant	esv2759149
Chromosome Location	chr3:53006055-53039455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53004365..53006043-chr3:53009863..53012220,2	MCF-7	breast:
2	chr3:53004813..53006485-chr3:53007030..53009652,2	K562	blood:
3	chr3:53025419..53026271-chr3:53080327..53081039,2	MCF-7	breast:
4	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:
5	chr3:52776114..52776854-chr3:53020723..53021564,2	K562	blood:
6	chr3:53004813..53006485-chr3:53007030..53009652,2	K562	blood:
7	chr3:53029648..53031787-chr3:53078604..53081365,2	MCF-7	breast:
8	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:
9	chr3:53037209..53039730-chr3:53079605..53081876,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 1266 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1266 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35671032	chr3:53006055-53006056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185956452	chr3:53006071-53006072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190761144	chr3:53006090-53006091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183242565	chr3:53006111-53006112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546801526	chr3:53006148-53006149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566545956	chr3:53006149-53006150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149880418	chr3:53006163-53006164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537615914	chr3:53006195-53006196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144929249	chr3:53006242-53006243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34933390	chr3:53006265-53006266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs538262751	chr3:53006295-53006296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558170321	chr3:53006422-53006423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578070518	chr3:53006482-53006483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534034357	chr3:53006537-53006538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554388747	chr3:53006583-53006584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148643590	chr3:53006646-53006647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374759560	chr3:53006661-53006662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562866264	chr3:53006662-53006663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576292702	chr3:53006675-53006676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543838305	chr3:53006682-53006683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185936666	chr3:53006690-53006691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540433107	chr3:53006761-53006762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55859723	chr3:53006807-53006808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57558321	chr3:53006808-53006809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533094618	chr3:53006814-53006815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111529702	chr3:53006816-53006817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191187766	chr3:53006843-53006844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142626492	chr3:53006848-53006849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377585212	chr3:53006852-53006853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370484752	chr3:53006857-53006858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71615882	chr3:53006858-53006859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549168733	chr3:53006873-53006874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182919551	chr3:53006889-53006890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55688451	chr3:53006891-53006892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567976373	chr3:53006907-53006908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538118545	chr3:53006957-53006958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551849334	chr3:53007021-53007022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374652750	chr3:53007026-53007027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535356037	chr3:53007033-53007034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571544290	chr3:53007064-53007065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534156094	chr3:53007160-53007161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553978381	chr3:53007184-53007185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146916416	chr3:53007185-53007186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536465075	chr3:53007237-53007238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556322169	chr3:53007256-53007257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553698298	chr3:53007263-53007264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576355744	chr3:53007328-53007329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188363835	chr3:53007352-53007353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191843910	chr3:53007363-53007364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577572626	chr3:53007387-53007388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	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
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	20016488	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52954000-53012200	Weak transcription	Esophagus	oesophagus
2	chr3:52954200-53012200	Weak transcription	Pancreas	Pancrea
3	chr3:52962400-53007000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:52962400-53012400	Weak transcription	Adipose Nuclei	Adipose
5	chr3:52964600-53012200	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
7	chr3:52965600-53008200	Weak transcription	GM12878-XiMat	blood
8	chr3:52969000-53008000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:52975000-53008000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:52977600-53017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:52986400-53012200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:52986800-53006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:52987200-53017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:52987600-53009400	Weak transcription	Placenta	Placenta
15	chr3:52987600-53014200	Weak transcription	Fetal Thymus	thymus
16	chr3:52987600-53014200	Weak transcription	Thymus	Thymus
17	chr3:52987800-53017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:52987800-53017000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr3:52988000-53014200	Weak transcription	Primary T cells from cord blood	blood
20	chr3:52992000-53015800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:52993800-53016800	Weak transcription	Primary B cells from cord blood	blood
22	chr3:52995200-53007000	Weak transcription	Right Ventricle	heart
23	chr3:52997200-53008200	Weak transcription	A549	lung
24	chr3:52999000-53008200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr3:53001400-53008000	Weak transcription	Osteobl	bone
26	chr3:53001800-53008800	Weak transcription	Brain Substantia Nigra	brain
27	chr3:53002000-53017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:53002400-53007800	Weak transcription	Hela-S3	cervix
29	chr3:53002400-53012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:53002400-53013400	Weak transcription	Liver	Liver
31	chr3:53003400-53016000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:53003400-53017000	Weak transcription	Dnd41	blood
33	chr3:53004000-53007800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:53004000-53012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:53004200-53014800	Weak transcription	Fetal Intestine Small	intestine
36	chr3:53005400-53006400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr3:53005400-53006800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:53005600-53006200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr3:53005800-53006200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr3:53005800-53006400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:53006000-53006400	Enhancers	Fetal Heart	heart
42	chr3:53006000-53008200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr3:53006200-53006400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr3:53006200-53015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:53006400-53008000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr3:53006400-53012000	Weak transcription	Fetal Heart	heart
47	chr3:53007000-53007200	Enhancers	Right Ventricle	heart
48	chr3:53007800-53008400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:53007800-53008400	Enhancers	Hela-S3	cervix
50	chr3:53007800-53008600	Enhancers	Primary T helper cells PMA-I stimulated	--

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