Variant report

Variant	esv3340965
Chromosome Location	chr7:27406477-27408975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:27405757..27408432-chr7:27408918..27411728,2	MCF-7	breast:
2	chr7:27396809..27399657-chr7:27404477..27407398,2	MCF-7	breast:
3	chr7:27402338..27404495-chr7:27407726..27411327,5	K562	blood:
4	chr7:27400161..27403429-chr7:27407565..27409955,3	MCF-7	breast:
5	chr7:27405757..27408432-chr7:27408918..27411728,2	MCF-7	breast:
6	chr7:27399683..27403128-chr7:27404699..27407246,3	K562	blood:
7	chr7:27400989..27404495-chr7:27408485..27412561,4	K562	blood:
8	chr7:27406760..27408471-chr7:27412393..27414390,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224322	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561890066	chr7:27406517-27406518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10279518	chr7:27406528-27406529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114831051	chr7:27406534-27406535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541377208	chr7:27406578-27406579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117582693	chr7:27406581-27406582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540863899	chr7:27406733-27406734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149410264	chr7:27406738-27406739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111226937	chr7:27406747-27406748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551819429	chr7:27406770-27406771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs28357227	chr7:27406771-27406772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6978713	chr7:27406782-27406783	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552891382	chr7:27406783-27406784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562886461	chr7:27406829-27406830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375935963	chr7:27406886-27406887	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549163193	chr7:27407045-27407046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188617803	chr7:27407059-27407060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534947424	chr7:27407131-27407132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546894886	chr7:27407156-27407157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565644380	chr7:27407160-27407161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539075740	chr7:27407167-27407168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557766206	chr7:27407243-27407244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146271066	chr7:27407244-27407245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367646964	chr7:27407245-27407246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4722694	chr7:27407321-27407322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs17450069	chr7:27407331-27407332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17450076	chr7:27407332-27407333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73683769	chr7:27407360-27407361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553013377	chr7:27407376-27407377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181148175	chr7:27407422-27407423	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545051684	chr7:27407475-27407476	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139447188	chr7:27407544-27407545	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530900797	chr7:27407565-27407566	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74518739	chr7:27407598-27407599	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112083928	chr7:27407622-27407623	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570531991	chr7:27407639-27407640	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528686459	chr7:27407642-27407643	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555150964	chr7:27407654-27407655	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546857841	chr7:27407679-27407680	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571830312	chr7:27407709-27407710	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs532865598	chr7:27407760-27407761	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551085688	chr7:27407761-27407762	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569671942	chr7:27407762-27407763	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537101658	chr7:27407787-27407788	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539755386	chr7:27407822-27407823	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111219226	chr7:27407838-27407839	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577088502	chr7:27407853-27407854	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191533422	chr7:27407856-27407857	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201892777	chr7:27407879-27407880	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148117455	chr7:27407882-27407883	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201942095	chr7:27407886-27407887	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27398200-27407400	Weak transcription	Pancreas	Pancrea
2	chr7:27404200-27407000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:27404200-27411800	Weak transcription	K562	blood
4	chr7:27404800-27407400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:27404800-27415000	Weak transcription	Right Atrium	heart
6	chr7:27405000-27407400	Weak transcription	Spleen	Spleen
7	chr7:27405000-27407600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:27407000-27407200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr7:27407400-27407600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:27407400-27407800	Genic enhancers	Pancreas	Pancrea
11	chr7:27407400-27407800	Enhancers	Spleen	Spleen
12	chr7:27407600-27408000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:27407600-27408000	ZNF genes & repeats	Fetal Kidney	kidney
14	chr7:27407600-27408000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr7:27407600-27408200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:27407600-27408200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:27407800-27408000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:27407800-27408000	Enhancers	Pancreas	Pancrea
19	chr7:27407800-27412000	Weak transcription	Spleen	Spleen
20	chr7:27408000-27409800	Weak transcription	Pancreas	Pancrea
21	chr7:27408000-27411600	Weak transcription	Fetal Kidney	kidney
22	chr7:27408200-27411600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:27408200-27411600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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