Variant report

Variant	esv3359277
Chromosome Location	chr4:7442627-7445450
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	chr4:7436453..7438238-chr4:7441242..7443096,2	MCF-7	breast:
2	chr4:7444681..7447159-chr4:7457852..7459823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178597	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376148256	chr4:7442633-7442634	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192844223	chr4:7442634-7442635	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2884810	chr4:7442654-7442655	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184915169	chr4:7442665-7442666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544307151	chr4:7442726-7442727	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs114112832	chr4:7442728-7442729	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115342231	chr4:7442762-7442763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551425039	chr4:7442764-7442765	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566766003	chr4:7442765-7442766	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143493746	chr4:7442774-7442775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547015294	chr4:7442783-7442784	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57365129	chr4:7442788-7442789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548983045	chr4:7442799-7442800	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565319363	chr4:7442818-7442819	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567308183	chr4:7442821-7442822	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148020393	chr4:7442830-7442831	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556238383	chr4:7442833-7442834	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571789328	chr4:7442842-7442843	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539232077	chr4:7442844-7442845	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs56882812	chr4:7442855-7442856	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370990934	chr4:7442857-7442858	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187714525	chr4:7442863-7442864	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572721307	chr4:7442868-7442869	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375821088	chr4:7442896-7442897	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555435130	chr4:7442899-7442900	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573656360	chr4:7442915-7442916	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191583298	chr4:7442917-7442918	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs2884809	chr4:7442925-7442926	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547905881	chr4:7442944-7442945	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs113752568	chr4:7442959-7442960	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117817798	chr4:7442990-7442991	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545189068	chr4:7443003-7443004	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560059696	chr4:7443005-7443006	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567417908	chr4:7443020-7443021	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370027993	chr4:7443070-7443071	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548845753	chr4:7443085-7443086	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549826218	chr4:7443113-7443114	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567371982	chr4:7443173-7443174	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531591996	chr4:7443200-7443201	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549724496	chr4:7443207-7443208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571717970	chr4:7443232-7443233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141605212	chr4:7443240-7443241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73212527	chr4:7443280-7443281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73086351	chr4:7443299-7443300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371033518	chr4:7443336-7443337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75606651	chr4:7443377-7443378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555298056	chr4:7443388-7443389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200480651	chr4:7443402-7443403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183768681	chr4:7443404-7443405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74201436	chr4:7443432-7443433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7436800-7443000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
3	chr4:7438200-7447000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:7441200-7442800	Enhancers	Stomach Mucosa	stomach
5	chr4:7442200-7443000	Enhancers	Esophagus	oesophagus
6	chr4:7442600-7442800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:7442600-7443400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:7442800-7443000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:7442800-7443200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:7443000-7443200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:7443000-7443200	Enhancers	Stomach Mucosa	stomach
12	chr4:7443000-7443400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:7443000-7443400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7443200-7443400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:7443200-7444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:7443400-7444400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:7443400-7444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7443400-7444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:7443400-7444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:7444400-7444800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr4:7444400-7444800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:7444400-7444800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr4:7444400-7444800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:7444400-7444800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:7444400-7444800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr4:7444400-7445000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:7444400-7445000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:7444400-7445200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:7444400-7445200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:7444600-7444800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr4:7444800-7448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:7445200-7445800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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