Variant report

Variant	esv3427018
Chromosome Location	chr7:118720966-118722864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543932584	chr7:118722403-118722404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114627614	chr7:118722405-118722406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116402648	chr7:118722428-118722429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541418045	chr7:118722460-118722461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13222117	chr7:118722466-118722467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13221866	chr7:118722492-118722493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572077818	chr7:118722500-118722501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562926046	chr7:118722529-118722530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371044921	chr7:118722545-118722546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564270617	chr7:118722565-118722566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146428882	chr7:118722598-118722599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191305490	chr7:118722612-118722613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78277464	chr7:118722614-118722615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529564093	chr7:118722628-118722629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183607888	chr7:118722634-118722635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116275140	chr7:118722649-118722650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527316849	chr7:118722669-118722670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140866298	chr7:118722678-118722679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144704652	chr7:118722700-118722701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73217568	chr7:118722739-118722740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566634548	chr7:118722752-118722753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555706624	chr7:118722755-118722756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200395388	chr7:118722758-118722759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140341789	chr7:118722794-118722795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570173458	chr7:118722817-118722818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187437048	chr7:118722820-118722821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547916045	chr7:118722824-118722825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567792890	chr7:118722827-118722828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555206491	chr7:118722839-118722840	Weak transcription	n/a	n/a	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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118722400-118722600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:118722600-118724200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links