Variant report

Variant	esv3428292
Chromosome Location	chr3:52376212-52382310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52375220..52376808-chr3:52378579..52380565,2	MCF-7	breast:
2	chr3:52375220..52376808-chr3:52378579..52380565,2	MCF-7	breast:
3	chr3:52378872..52380816-chr3:52409313..52412087,2	MCF-7	breast:
4	chr3:52336627..52339541-chr3:52378479..52380909,2	K562	blood:
5	chr3:52332184..52333730-chr3:52381219..52384189,2	K562	blood:

Variant related genes	Relation type
ENSG00000242797	chromatin interactions

Extended variants
information (count: 281 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529137849	chr3:52376283-52376284	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542542878	chr3:52376285-52376286	Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562899457	chr3:52376401-52376402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531649937	chr3:52376409-52376410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147353071	chr3:52376444-52376445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181331487	chr3:52376502-52376503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370252711	chr3:52376528-52376529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556615442	chr3:52376549-52376550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77046977	chr3:52376670-52376671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185859580	chr3:52376701-52376702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567885864	chr3:52376704-52376705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536940473	chr3:52376707-52376708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556622537	chr3:52376721-52376722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71297391	chr3:52376773-52376774	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537448979	chr3:52376774-52376775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139549116	chr3:52376780-52376781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142588556	chr3:52376809-52376810	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539975983	chr3:52376847-52376848	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540983614	chr3:52376927-52376928	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553530149	chr3:52376944-52376945	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs699470	chr3:52376975-52376976	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542504304	chr3:52376989-52376990	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562650230	chr3:52376990-52376991	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531703448	chr3:52377010-52377011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190518499	chr3:52377021-52377022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565313814	chr3:52377094-52377095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183095454	chr3:52377141-52377142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560017632	chr3:52377169-52377170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547956054	chr3:52377176-52377177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567847846	chr3:52377221-52377222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530324852	chr3:52377234-52377235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550400429	chr3:52377271-52377272	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570277553	chr3:52377272-52377273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13091545	chr3:52377294-52377295	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs557455757	chr3:52377320-52377321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570941093	chr3:52377338-52377339	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533640212	chr3:52377365-52377366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150872352	chr3:52377376-52377377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573461914	chr3:52377395-52377396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570028347	chr3:52377429-52377430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73837051	chr3:52377465-52377466	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556388615	chr3:52377469-52377470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76163721	chr3:52377475-52377476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545314033	chr3:52377514-52377515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532845387	chr3:52377528-52377529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565129415	chr3:52377529-52377530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373557564	chr3:52377535-52377536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572510723	chr3:52377562-52377563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541494035	chr3:52377595-52377596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561368595	chr3:52377611-52377612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Bladder cancer	21909424	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52330400-52378600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:52344600-52378600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:52352000-52379800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:52352200-52379000	Weak transcription	Colonic Mucosa	Colon
5	chr3:52352200-52382000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:52352200-52384600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:52352600-52379400	Weak transcription	Pancreas	Pancrea
8	chr3:52353400-52377400	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:52354400-52379800	Weak transcription	Esophagus	oesophagus
10	chr3:52354800-52384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:52358400-52380400	Weak transcription	Ovary	ovary
12	chr3:52362400-52378200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:52362800-52378600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:52364200-52383000	Weak transcription	Fetal Lung	lung
15	chr3:52364400-52379400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:52364800-52394400	Weak transcription	HSMMtube	muscle
17	chr3:52366400-52378400	Weak transcription	Brain Anterior Caudate	brain
18	chr3:52366400-52383000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:52366600-52377800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:52366600-52377800	Weak transcription	Spleen	Spleen
21	chr3:52366600-52378400	Weak transcription	Gastric	stomach
22	chr3:52366600-52379400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:52366600-52386600	Weak transcription	Aorta	Aorta
24	chr3:52366800-52383000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:52367200-52378600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:52367200-52379600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr3:52367600-52384400	Weak transcription	Fetal Kidney	kidney
28	chr3:52368400-52378400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:52368400-52378400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:52368400-52378600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr3:52368400-52383000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:52368800-52377000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:52368800-52377400	Weak transcription	Adipose Nuclei	Adipose
34	chr3:52368800-52377600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr3:52368800-52378200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:52368800-52378200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr3:52368800-52378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:52368800-52380200	Weak transcription	Left Ventricle	heart
39	chr3:52368800-52380400	Weak transcription	Placenta	Placenta
40	chr3:52368800-52380400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr3:52370600-52379600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:52370800-52377400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:52371000-52377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:52372000-52379200	Weak transcription	Primary B cells from cord blood	blood
45	chr3:52372000-52379600	Weak transcription	NHLF	lung
46	chr3:52372000-52380400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr3:52372200-52379600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:52372400-52376800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:52372400-52378600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr3:52372600-52379600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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