Variant report

Variant	esv3424716
Chromosome Location	chr7:98776416-98780614
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	chr7:98766950..98769641-chr7:98774133..98776807,2	MCF-7	breast:
2	chr7:98774867..98777763-chr7:98793623..98796162,2	K562	blood:

Extended variants
information (count: 268 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78555951	chr7:98776425-98776426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370609511	chr7:98776436-98776437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10279765	chr7:98776485-98776486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10264067	chr7:98776489-98776490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565866366	chr7:98776499-98776500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370373372	chr7:98776511-98776512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548617133	chr7:98776516-98776517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372097907	chr7:98776549-98776550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548168734	chr7:98776566-98776567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58178419	chr7:98776582-98776583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57180842	chr7:98776588-98776589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60771421	chr7:98776619-98776620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183158206	chr7:98776627-98776628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59404094	chr7:98776635-98776636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10264500	chr7:98776639-98776640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10234797	chr7:98776652-98776653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560434478	chr7:98776654-98776655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71567527	chr7:98776681-98776682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558676602	chr7:98776715-98776716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187889976	chr7:98776724-98776725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369536008	chr7:98776730-98776731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147194905	chr7:98776731-98776732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192978284	chr7:98776732-98776733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550400252	chr7:98776821-98776822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10280276	chr7:98776840-98776841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10235089	chr7:98776857-98776858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531225169	chr7:98776899-98776900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143039220	chr7:98776911-98776912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148184653	chr7:98776914-98776915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568836604	chr7:98776945-98776946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542364023	chr7:98776972-98776973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56021523	chr7:98776978-98776979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561000383	chr7:98776992-98776993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202021775	chr7:98777017-98777018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576049100	chr7:98777036-98777037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10235342	chr7:98777051-98777052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564852818	chr7:98777097-98777098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547855027	chr7:98777142-98777143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371118506	chr7:98777181-98777182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34519884	chr7:98777182-98777183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546611157	chr7:98777192-98777193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71108419	chr7:98777195-98777196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369452024	chr7:98777231-98777232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532484428	chr7:98777255-98777256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183013538	chr7:98777267-98777268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187676114	chr7:98777299-98777300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192360297	chr7:98777301-98777302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371504211	chr7:98777327-98777328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374955256	chr7:98777335-98777336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200302695	chr7:98777374-98777375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98769600-98782400	Weak transcription	Gastric	stomach
2	chr7:98775200-98781800	Weak transcription	Stomach Mucosa	stomach
3	chr7:98775800-98788400	Weak transcription	Right Atrium	heart
4	chr7:98777600-98777800	Enhancers	HepG2	liver
5	chr7:98778000-98778800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:98778000-98778800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr7:98778200-98778600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr7:98778400-98778600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:98778600-98779400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:98779600-98779800	Enhancers	HepG2	liver
11	chr7:98780000-98781800	Weak transcription	HepG2	liver

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