Variant report

Variant	esv13723
Chromosome Location	chr7:121220580-121225270
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	chr1:186970460..186971229-chr7:121222077..121222895,2	MCF-7	breast:
2	chr7:121214668..121216792-chr7:121219820..121221522,2	K562	blood:

Variant related genes	Relation type
ENSG00000221690	chromatin interactions

Extended variants
information (count: 207 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182579485	chr7:121220589-121220590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548471130	chr7:121220614-121220615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556773316	chr7:121220615-121220616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557501778	chr7:121220641-121220642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570297738	chr7:121220668-121220669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10488048	chr7:121220682-121220683	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144645200	chr7:121220684-121220685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572510173	chr7:121220698-121220699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs970727	chr7:121220699-121220700	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs138671867	chr7:121220754-121220755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577037732	chr7:121220760-121220761	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545725685	chr7:121220763-121220764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569686665	chr7:121220797-121220798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75745652	chr7:121220810-121220811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575878954	chr7:121220838-121220839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141701349	chr7:121220852-121220853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187702466	chr7:121220861-121220862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557243559	chr7:121220870-121220871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs28613412	chr7:121220935-121220936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs577516260	chr7:121220962-121220963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369523510	chr7:121220975-121220976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547051307	chr7:121220984-121220985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564136517	chr7:121220990-121220991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533654198	chr7:121220998-121220999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550537740	chr7:121220999-121221000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34147848	chr7:121221025-121221026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6967572	chr7:121221034-121221035	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536012297	chr7:121221057-121221058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549568553	chr7:121221058-121221059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192270257	chr7:121221059-121221060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572192680	chr7:121221079-121221080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535145068	chr7:121221088-121221089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372234020	chr7:121221100-121221101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs58071425	chr7:121221105-121221106	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs6967738	chr7:121221147-121221148	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6947850	chr7:121221197-121221198	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138076248	chr7:121221218-121221219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149359786	chr7:121221258-121221259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575939390	chr7:121221264-121221265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144687286	chr7:121221296-121221297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375457220	chr7:121221309-121221310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6466797	chr7:121221323-121221324	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563045162	chr7:121221438-121221439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185069818	chr7:121221481-121221482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138270009	chr7:121221491-121221492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10674165	chr7:121221499-121221500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368092304	chr7:121221500-121221501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528086926	chr7:121221519-121221520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs397959588	chr7:121221520-121221521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563919566	chr7:121221521-121221522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121216600-121221800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:121216800-121221600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:121216800-121221800	Weak transcription	Pancreas	Pancrea
4	chr7:121221600-121222000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:121221800-121222200	Enhancers	Fetal Brain Male	brain
6	chr7:121221800-121222200	Enhancers	Gastric	stomach
7	chr7:121221800-121222200	Enhancers	Pancreas	Pancrea
8	chr7:121221800-121222200	Enhancers	Right Atrium	heart
9	chr7:121221800-121222200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr7:121221800-121222400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:121221800-121223000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:121222000-121232200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:121222200-121223400	Weak transcription	Right Atrium	heart
14	chr7:121223400-121223600	Enhancers	Right Atrium	heart
15	chr7:121224400-121224800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:121224800-121225000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr7:121224800-121232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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