Variant report

Variant	esv3376410
Chromosome Location	chr7:55776708-55778806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541498106	chr7:55776762-55776763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559891436	chr7:55776818-55776819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143254751	chr7:55776819-55776820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537313545	chr7:55776822-55776823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536947654	chr7:55776837-55776838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192414674	chr7:55776865-55776866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563570104	chr7:55776970-55776971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531602964	chr7:55776973-55776974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549819756	chr7:55776979-55776980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151247868	chr7:55777000-55777001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529079633	chr7:55777005-55777006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547234995	chr7:55777018-55777019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183186993	chr7:55777025-55777026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76439744	chr7:55777037-55777038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202117907	chr7:55777041-55777042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6961483	chr7:55777042-55777043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs569572768	chr7:55777043-55777044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376084937	chr7:55777044-55777045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553137790	chr7:55777061-55777062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537716910	chr7:55777089-55777090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555796523	chr7:55777132-55777133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185142228	chr7:55777237-55777238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535229461	chr7:55777278-55777279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553645879	chr7:55777291-55777292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377583963	chr7:55777325-55777326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143964471	chr7:55777329-55777330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375201729	chr7:55777339-55777340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368215261	chr7:55777355-55777356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144759228	chr7:55777484-55777485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10546560	chr7:55777485-55777486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557285039	chr7:55777489-55777490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565675874	chr7:55777490-55777491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543936137	chr7:55777497-55777498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200425939	chr7:55777502-55777503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150239620	chr7:55777504-55777505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75945323	chr7:55777510-55777511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575555788	chr7:55777519-55777520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62456561	chr7:55777522-55777523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371874857	chr7:55777523-55777524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374011664	chr7:55777547-55777548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71978405	chr7:55777582-55777583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7458867	chr7:55777584-55777585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201095687	chr7:55777598-55777599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201433352	chr7:55777599-55777600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550967847	chr7:55777625-55777626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182553006	chr7:55777626-55777627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199636113	chr7:55777642-55777643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149428632	chr7:55777650-55777651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143907215	chr7:55777652-55777653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs188426618	chr7:55777654-55777655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21569311	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55767600-55777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:55767800-55778000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:55767800-55778000	Weak transcription	HMEC	breast
4	chr7:55775000-55777800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:55775800-55776800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:55776200-55777800	Weak transcription	NHEK	skin
7	chr7:55777000-55779200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:55777800-55778400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:55777800-55778800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:55777800-55779000	Enhancers	NHEK	skin
11	chr7:55778000-55778200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:55778000-55778600	Enhancers	HMEC	breast

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