Variant report

Variant	esv15554
Chromosome Location	chr7:121217627-121219617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:121217800-121217950	GM12872	blood:	n/a	n/a
2	JUND	chr7:121218570-121218895	HepG2	liver:	n/a	chr7:121218727-121218736

Variant related genes	Relation type
ENSG00000221690	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5000111	chr7:121217630-121217631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs5000110	chr7:121217655-121217656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113410961	chr7:121217660-121217661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5000108	chr7:121217742-121217743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535648585	chr7:121217746-121217747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572838887	chr7:121217754-121217755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545377440	chr7:121217831-121217832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565528838	chr7:121217882-121217883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191544093	chr7:121217943-121217944	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs736411	chr7:121217958-121217959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184417613	chr7:121218029-121218030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530113014	chr7:121218087-121218088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546729433	chr7:121218111-121218112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566748790	chr7:121218126-121218127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs736412	chr7:121218141-121218142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552298050	chr7:121218142-121218143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571482306	chr7:121218143-121218144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537362853	chr7:121218149-121218150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375982715	chr7:121218164-121218165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141874562	chr7:121218173-121218174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188060162	chr7:121218179-121218180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536345893	chr7:121218239-121218240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192817447	chr7:121218279-121218280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572857893	chr7:121218301-121218302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146584877	chr7:121218335-121218336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544952595	chr7:121218371-121218372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs757710	chr7:121218459-121218460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557838337	chr7:121218467-121218468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575505541	chr7:121218552-121218553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144575517	chr7:121218591-121218592	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs561131274	chr7:121218605-121218606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574737315	chr7:121218609-121218610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374832497	chr7:121218619-121218620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs740100	chr7:121218645-121218646	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148719423	chr7:121218648-121218649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs185196679	chr7:121218650-121218651	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs141413466	chr7:121218694-121218695	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554649629	chr7:121218707-121218708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs562766923	chr7:121218708-121218709	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs530808686	chr7:121218711-121218712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs576356652	chr7:121218715-121218716	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369062420	chr7:121218792-121218793	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs56003644	chr7:121218809-121218810	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs190389754	chr7:121218810-121218811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs543586365	chr7:121218835-121218836	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567468105	chr7:121218878-121218879	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs181546364	chr7:121218979-121218980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17132759	chr7:121218993-121218994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566526892	chr7:121219016-121219017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150859101	chr7:121219059-121219060	Weak transcription	n/a	n/a	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:3 , 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

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