Variant report

Variant	esv996482
Chromosome Location	chr7:120537115-120544155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120537129..120539882-chr7:120590828..120592678,2	K562	blood:
2	chr7:120534467..120536521-chr7:120539117..120541286,2	K562	blood:
3	chr7:120528946..120531316-chr7:120535468..120537463,2	K562	blood:
4	chr7:120536282..120540168-chr7:120546735..120550656,4	K562	blood:

Variant related genes	Relation type
ENSG00000071243	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77204373	chr7:120537146-120537147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35985855	chr7:120537239-120537240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77424470	chr7:120537250-120537251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189687659	chr7:120537275-120537276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559464757	chr7:120537281-120537282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541669941	chr7:120537283-120537284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564699554	chr7:120537296-120537297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192732289	chr7:120537304-120537305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543804329	chr7:120537309-120537310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564005981	chr7:120537318-120537319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529274913	chr7:120537487-120537488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146879983	chr7:120537488-120537489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372099183	chr7:120537489-120537490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79282144	chr7:120537511-120537512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116055620	chr7:120537566-120537567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs78110612	chr7:120537586-120537587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs398095332	chr7:120537587-120537588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80302528	chr7:120537615-120537616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140695832	chr7:120537619-120537620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539610776	chr7:120537652-120537653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556229377	chr7:120537666-120537667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569883808	chr7:120537732-120537733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535111718	chr7:120537734-120537735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs555365621	chr7:120537928-120537929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572051112	chr7:120537929-120537930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531099987	chr7:120537931-120537932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10256185	chr7:120537945-120537946	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74530151	chr7:120538010-120538011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79819811	chr7:120538023-120538024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs578146597	chr7:120538057-120538058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201987143	chr7:120538064-120538065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563838145	chr7:120538221-120538222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185160042	chr7:120538223-120538224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542679368	chr7:120538236-120538237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145260637	chr7:120538244-120538245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs146415131	chr7:120538247-120538248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530007972	chr7:120538259-120538260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs74626897	chr7:120538289-120538290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571404223	chr7:120538328-120538329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77207908	chr7:120538340-120538341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563831375	chr7:120538405-120538406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538777068	chr7:120538468-120538469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549905813	chr7:120538471-120538472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1018944	chr7:120538490-120538491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190093996	chr7:120538504-120538505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555687165	chr7:120538507-120538508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117340922	chr7:120538530-120538531	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571461757	chr7:120538645-120538646	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76851771	chr7:120538651-120538652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557889835	chr7:120538652-120538653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120535800-120540800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:120538200-120538600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:120539000-120539600	Enhancers	Fetal Kidney	kidney
4	chr7:120540800-120541000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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