Variant report

Variant	esv3464790
Chromosome Location	chr4:15628513-15629533
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	chr4:15626638..15628672-chr4:15655533..15657552,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182334026	chr4:15628518-15628519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377569649	chr4:15628528-15628529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199959677	chr4:15628531-15628532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551810766	chr4:15628539-15628540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs367623819	chr4:15628610-15628611	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62290585	chr4:15628612-15628613	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376374196	chr4:15628624-15628625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370658525	chr4:15628632-15628633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565485676	chr4:15628684-15628685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569632269	chr4:15628686-15628687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538690012	chr4:15628719-15628720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201774109	chr4:15628751-15628752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398051414	chr4:15628754-15628755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66516269	chr4:15628755-15628756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77347246	chr4:15628773-15628774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397992361	chr4:15628775-15628776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62290586	chr4:15628809-15628810	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs548015685	chr4:15628877-15628878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111555447	chr4:15628906-15628907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568323291	chr4:15628953-15628954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541238758	chr4:15629005-15629006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554435569	chr4:15629045-15629046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559360627	chr4:15629046-15629047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536831267	chr4:15629052-15629053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368555728	chr4:15629058-15629059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12645849	chr4:15629080-15629081	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557237579	chr4:15629137-15629138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186941007	chr4:15629186-15629187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62290587	chr4:15629205-15629206	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562934735	chr4:15629207-15629208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200627461	chr4:15629208-15629209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111820000	chr4:15629259-15629260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191734520	chr4:15629303-15629304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572394208	chr4:15629310-15629311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541483523	chr4:15629332-15629333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373671409	chr4:15629375-15629376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141298183	chr4:15629379-15629380	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145078928	chr4:15629385-15629386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62290588	chr4:15629409-15629410	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs372160816	chr4:15629461-15629462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201380547	chr4:15629465-15629466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563875494	chr4:15629481-15629482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532599201	chr4:15629517-15629518	Weak transcription Strong transcription Enhancers	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:142 , 50 per page) page: 1 2 3

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	chr4:15622600-15629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
15	chr4:15622800-15635200	Weak transcription	Fetal Stomach	stomach
16	chr4:15623400-15638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:15623800-15633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:15623800-15635200	Weak transcription	Fetal Intestine Small	intestine
19	chr4:15623800-15635400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:15624200-15636000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:15624400-15629600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:15624400-15629800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:15624600-15630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:15624800-15632800	Strong transcription	Dnd41	blood
25	chr4:15625200-15632600	Strong transcription	HSMM	muscle
26	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr4:15625400-15632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:15625600-15629600	Strong transcription	GM12878-XiMat	blood
31	chr4:15625600-15629800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:15625600-15630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:15625600-15632400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:15625800-15628800	Strong transcription	HMEC	breast
35	chr4:15625800-15629600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:15625800-15629600	Strong transcription	NH-A	brain
37	chr4:15625800-15629800	Strong transcription	Fetal Thymus	thymus
38	chr4:15625800-15632400	Strong transcription	Liver	Liver
39	chr4:15625800-15632400	Strong transcription	NHDF-Ad	bronchial
40	chr4:15625800-15632600	Strong transcription	Osteobl	bone
41	chr4:15625800-15632800	Strong transcription	Primary B cells from cord blood	blood
42	chr4:15625800-15632800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:15625800-15642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:15626000-15628600	Strong transcription	Fetal Muscle Leg	muscle
49	chr4:15626000-15629000	Strong transcription	Placenta	Placenta
50	chr4:15626000-15629600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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