Variant report

Variant	esv2653196
Chromosome Location	chr7:124975657-124977241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190792469	chr7:124975659-124975660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117681269	chr7:124975686-124975687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532697734	chr7:124975707-124975708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201802614	chr7:124975722-124975723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369405194	chr7:124975727-124975728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75907347	chr7:124975736-124975737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549252904	chr7:124975873-124975874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538459937	chr7:124975886-124975887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373782088	chr7:124975914-124975915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs202108193	chr7:124975927-124975928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57733213	chr7:124975928-124975929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377291788	chr7:124975929-124975930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200117606	chr7:124975930-124975931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372873675	chr7:124975931-124975932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35496796	chr7:124975932-124975933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34276235	chr7:124975934-124975935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34836626	chr7:124975936-124975937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568253845	chr7:124975938-124975939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201514204	chr7:124975960-124975961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534023653	chr7:124975964-124975965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71312858	chr7:124975976-124975977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34709434	chr7:124975986-124975987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73719376	chr7:124975994-124975995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576783508	chr7:124976008-124976009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545796645	chr7:124976017-124976018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556398529	chr7:124976018-124976019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6467000	chr7:124976039-124976040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542043837	chr7:124976132-124976133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561857139	chr7:124976134-124976135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564246267	chr7:124976193-124976194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566063714	chr7:124976206-124976207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541081867	chr7:124976306-124976307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17390435	chr7:124976330-124976331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554326522	chr7:124976344-124976345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532913620	chr7:124976356-124976357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148926466	chr7:124976371-124976372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376005926	chr7:124976374-124976375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113292659	chr7:124976382-124976383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571724309	chr7:124976386-124976387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34756400	chr7:124976411-124976412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537014318	chr7:124976430-124976431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192893660	chr7:124976445-124976446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537141671	chr7:124976456-124976457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139370264	chr7:124976471-124976472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371372737	chr7:124976482-124976483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548419423	chr7:124976526-124976527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568265948	chr7:124976563-124976564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374391241	chr7:124976591-124976592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185395278	chr7:124976610-124976611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115636200	chr7:124976612-124976613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124962000-124984400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124975200-124977200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:124975200-124977600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:124975400-124976800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:124975400-124977600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:124975600-124975800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:124975600-124975800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:124975600-124976400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:124975600-124976600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:124975600-124977400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:124975800-124976600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:124975800-124976800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:124976600-124977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:124976800-124977200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:124977200-124978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links