Variant report

Variant	esv3379851
Chromosome Location	chr4:15632399-15638119
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	chr4:15635424..15637202-chr4:15637688..15639779,2	MCF-7	breast:
2	chr4:15635424..15637202-chr4:15637688..15639779,2	MCF-7	breast:

Extended variants
information (count: 265 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:265 , 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	rs555643420	chr4:15632460-15632461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11934401	chr4:15632484-15632485	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs16892220	chr4:15632492-15632493	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557561974	chr4:15632494-15632495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577694054	chr4:15632506-15632507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540219992	chr4:15632510-15632511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181766104	chr4:15632537-15632538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558895335	chr4:15632544-15632545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201608870	chr4:15632545-15632546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112309399	chr4:15632549-15632550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190109599	chr4:15632553-15632554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143878112	chr4:15632562-15632563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372404014	chr4:15632612-15632613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377177185	chr4:15632623-15632624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181349194	chr4:15632705-15632706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564407138	chr4:15632710-15632711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533429513	chr4:15632716-15632717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10015827	chr4:15632732-15632733	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs560068698	chr4:15632751-15632752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529256026	chr4:15632759-15632760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111667829	chr4:15632768-15632769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549253135	chr4:15632771-15632772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373103821	chr4:15632782-15632783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185038860	chr4:15632786-15632787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113980230	chr4:15632802-15632803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538032140	chr4:15632805-15632806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190916285	chr4:15632815-15632816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533845954	chr4:15632848-15632849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537239798	chr4:15632870-15632871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376652110	chr4:15632940-15632941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573639683	chr4:15632982-15632983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183968786	chr4:15632999-15633000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530613585	chr4:15633007-15633008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556182587	chr4:15633023-15633024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576316237	chr4:15633029-15633030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143000933	chr4:15633039-15633040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188840321	chr4:15633054-15633055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550788635	chr4:15633070-15633071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571912675	chr4:15633079-15633080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540289806	chr4:15633081-15633082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77743450	chr4:15633111-15633112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529244297	chr4:15633118-15633119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6839438	chr4:15633160-15633161	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191669214	chr4:15633183-15633184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376734173	chr4:15633199-15633200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113767813	chr4:15633213-15633214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370935072	chr4:15633226-15633227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551811908	chr4:15633227-15633228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571768572	chr4:15633287-15633288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71649917	chr4:15633388-15633389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
6	chr4:15606000-15633800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:15613400-15635000	Weak transcription	HSMMtube	muscle
8	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
9	chr4:15621000-15632600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:15622400-15638000	Weak transcription	HepG2	liver
12	chr4:15622400-15639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
14	chr4:15622800-15635200	Weak transcription	Fetal Stomach	stomach
15	chr4:15623400-15638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:15623800-15633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:15623800-15635200	Weak transcription	Fetal Intestine Small	intestine
18	chr4:15623800-15635400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:15624200-15636000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:15624800-15632800	Strong transcription	Dnd41	blood
21	chr4:15625200-15632600	Strong transcription	HSMM	muscle
22	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr4:15625400-15632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:15625600-15632400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:15625800-15632400	Strong transcription	Liver	Liver
28	chr4:15625800-15632400	Strong transcription	NHDF-Ad	bronchial
29	chr4:15625800-15632600	Strong transcription	Osteobl	bone
30	chr4:15625800-15632800	Strong transcription	Primary B cells from cord blood	blood
31	chr4:15625800-15632800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:15625800-15642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:15626000-15632400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:15626000-15632600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:15626400-15646000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:15626600-15635000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:15626800-15632800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr4:15626800-15634800	Weak transcription	Hela-S3	cervix
43	chr4:15626800-15635000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr4:15627400-15633400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:15627400-15634600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:15627400-15635000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:15627400-15635400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:15627400-15645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:15627400-15650000	Weak transcription	Fetal Heart	heart
50	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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