Variant report

Variant	esv3464787
Chromosome Location	chr4:15627536-15628517
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: 38 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151153192	chr4:15627539-15627540	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531140858	chr4:15627543-15627544	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376132486	chr4:15627545-15627546	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144046392	chr4:15627568-15627569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372556057	chr4:15627608-15627609	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574311746	chr4:15627668-15627669	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148625395	chr4:15627675-15627676	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192894152	chr4:15627685-15627686	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531600501	chr4:15627692-15627693	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551801357	chr4:15627707-15627708	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565418870	chr4:15627754-15627755	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528024706	chr4:15627824-15627825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144354730	chr4:15627839-15627840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567833191	chr4:15627853-15627854	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184911396	chr4:15627911-15627912	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147349788	chr4:15627914-15627915	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377438858	chr4:15627923-15627924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538233747	chr4:15627924-15627925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111822546	chr4:15627926-15627927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35258636	chr4:15627927-15627928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371851437	chr4:15627970-15627971	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534889028	chr4:15627975-15627976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75099653	chr4:15628020-15628021	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs180929609	chr4:15628080-15628081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114645785	chr4:15628109-15628110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73241105	chr4:15628125-15628126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139492097	chr4:15628171-15628172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368903020	chr4:15628173-15628174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186308373	chr4:15628200-15628201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562641742	chr4:15628280-15628281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144904513	chr4:15628283-15628284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151319143	chr4:15628296-15628297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140619316	chr4:15628322-15628323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368903238	chr4:15628339-15628340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527707726	chr4:15628356-15628357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189482534	chr4:15628362-15628363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561607741	chr4:15628385-15628386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369462624	chr4:15628472-15628473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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:170 , 50 per page) page: 1 2 3 4

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	chr4:15623800-15627800	Strong transcription	Primary hematopoietic stem cells	blood
18	chr4:15623800-15633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:15623800-15635200	Weak transcription	Fetal Intestine Small	intestine
20	chr4:15623800-15635400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:15624200-15636000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:15624400-15627600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:15624400-15629600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:15624400-15629800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:15624600-15630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:15624800-15632800	Strong transcription	Dnd41	blood
27	chr4:15625200-15627600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:15625200-15632600	Strong transcription	HSMM	muscle
29	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr4:15625400-15627600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:15625400-15627800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:15625400-15632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:15625600-15627600	Strong transcription	A549	lung
36	chr4:15625600-15628000	Strong transcription	HUVEC	blood vessel
37	chr4:15625600-15629600	Strong transcription	GM12878-XiMat	blood
38	chr4:15625600-15629800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:15625600-15630200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:15625600-15632400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:15625800-15627600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:15625800-15628000	Strong transcription	Fetal Kidney	kidney
43	chr4:15625800-15628200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr4:15625800-15628400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:15625800-15628800	Strong transcription	HMEC	breast
46	chr4:15625800-15629600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:15625800-15629600	Strong transcription	NH-A	brain
48	chr4:15625800-15629800	Strong transcription	Fetal Thymus	thymus
49	chr4:15625800-15632400	Strong transcription	Liver	Liver
50	chr4:15625800-15632400	Strong transcription	NHDF-Ad	bronchial

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