Variant report

Variant	esv12430
Chromosome Location	chr7:119657064-119659044
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	chr5:180287957..180289513-chr7:119656986..119658815,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196670	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36024909	chr7:119657064-119657065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73431706	chr7:119657109-119657110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188609720	chr7:119657131-119657132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181636790	chr7:119657234-119657235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146034100	chr7:119657283-119657284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148832517	chr7:119657294-119657295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376754293	chr7:119657296-119657297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549661425	chr7:119657378-119657379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563146140	chr7:119657383-119657384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531013157	chr7:119657402-119657403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529039962	chr7:119657416-119657417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139948457	chr7:119657493-119657494	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566013894	chr7:119657542-119657543	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535098365	chr7:119657551-119657552	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186774648	chr7:119657561-119657562	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546380997	chr7:119657578-119657579	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571655845	chr7:119657604-119657605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537785229	chr7:119657764-119657765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76420329	chr7:119657809-119657810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568133822	chr7:119657810-119657811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs17142474	chr7:119657866-119657867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536409975	chr7:119657872-119657873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10249750	chr7:119657891-119657892	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572073362	chr7:119657954-119657955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs151047461	chr7:119657959-119657960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563786585	chr7:119657968-119657969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577171546	chr7:119658031-119658032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563490303	chr7:119658033-119658034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190632698	chr7:119658036-119658037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370377591	chr7:119658131-119658132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563208969	chr7:119658185-119658186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182311962	chr7:119658188-119658189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140928124	chr7:119658194-119658195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559485916	chr7:119658195-119658196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569200962	chr7:119658205-119658206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528621791	chr7:119658236-119658237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs77925064	chr7:119658240-119658241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149806313	chr7:119658271-119658272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530888131	chr7:119658290-119658291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551312445	chr7:119658321-119658322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567836799	chr7:119658327-119658328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536929803	chr7:119658334-119658335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10268575	chr7:119658343-119658344	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567051852	chr7:119658350-119658351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs534414997	chr7:119658440-119658441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557389559	chr7:119658462-119658463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529089682	chr7:119658469-119658470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34450111	chr7:119658484-119658485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542984834	chr7:119658581-119658582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556893127	chr7:119658603-119658604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119655400-119657400	Weak transcription	Ovary	ovary
2	chr7:119656400-119661000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:119656400-119668400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:119657000-119657400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:119657400-119657600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:119657400-119657800	Enhancers	Ovary	ovary
7	chr7:119657400-119661400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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