Variant report

Variant	esv20451
Chromosome Location	chr7:7051601-7053980
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	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114360928	chr7:7051628-7051629	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574520836	chr7:7051646-7051647	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541922918	chr7:7051663-7051664	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547170059	chr7:7051670-7051671	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562359536	chr7:7051681-7051682	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139396467	chr7:7051700-7051701	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564481046	chr7:7051703-7051704	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374722212	chr7:7051715-7051716	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566764361	chr7:7051769-7051770	ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376598492	chr7:7051822-7051823	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562327924	chr7:7051830-7051831	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529427579	chr7:7051870-7051871	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7806609	chr7:7051872-7051873	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530143700	chr7:7051888-7051889	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4314565	chr7:7051889-7051890	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534085089	chr7:7051905-7051906	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570790277	chr7:7051917-7051918	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538165194	chr7:7051943-7051944	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556151999	chr7:7051971-7051972	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62453070	chr7:7051985-7051986	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111550093	chr7:7051990-7051991	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553876384	chr7:7051992-7051993	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77299124	chr7:7051997-7051998	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545428304	chr7:7052020-7052021	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59570173	chr7:7052040-7052041	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575603147	chr7:7052046-7052047	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117742356	chr7:7052089-7052090	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562198047	chr7:7052092-7052093	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185377465	chr7:7052099-7052100	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556550019	chr7:7052129-7052130	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142093665	chr7:7052150-7052151	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574738625	chr7:7052155-7052156	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551880524	chr7:7052169-7052170	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151090787	chr7:7052170-7052171	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530769841	chr7:7052171-7052172	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189960701	chr7:7052186-7052187	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568259212	chr7:7052207-7052208	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142510740	chr7:7052222-7052223	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs3924856	chr7:7052237-7052238	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144942629	chr7:7052249-7052250	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539168741	chr7:7052261-7052262	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545995214	chr7:7052274-7052275	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182618163	chr7:7052288-7052289	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147964210	chr7:7052304-7052305	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188136780	chr7:7052321-7052322	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564390600	chr7:7052323-7052324	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4320464	chr7:7052342-7052343	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35967536	chr7:7052399-7052400	Active TSS Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113431953	chr7:7052453-7052454	Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193142218	chr7:7052468-7052469	Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7032400-7051800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7039600-7053800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:7050000-7053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:7050800-7051800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:7050800-7052200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:7050800-7052600	Strong transcription	Fetal Intestine Small	intestine
7	chr7:7051200-7052400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:7051600-7051800	Bivalent/Poised TSS	A549	lung
9	chr7:7051600-7052200	Strong transcription	Fetal Intestine Large	intestine
10	chr7:7051600-7053800	Enhancers	K562	blood
11	chr7:7051800-7052600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr7:7052200-7052600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:7052200-7053800	Weak transcription	Fetal Intestine Large	intestine
14	chr7:7052400-7060600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:7052600-7052800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:7052600-7054200	Weak transcription	Fetal Intestine Small	intestine
17	chr7:7052600-7058200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:7052800-7055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:7053200-7053600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:7053400-7055600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:7053600-7055000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:7053800-7055000	Enhancers	Brain Germinal Matrix	brain

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