Variant report

Variant	esv3374931
Chromosome Location	chr7:112857766-112859764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112856306..112858069-chr7:112863291..112865541,2	K562	blood:
2	chr7:112854163..112856387-chr7:112856648..112858157,2	MCF-7	breast:
3	chr7:112849832..112851498-chr7:112857060..112858734,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185911766	chr7:112857831-112857832	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536659351	chr7:112857842-112857843	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190780230	chr7:112857860-112857861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183021915	chr7:112857893-112857894	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187707979	chr7:112857977-112857978	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552738553	chr7:112857988-112857989	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191007773	chr7:112857990-112857991	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78456966	chr7:112857992-112857993	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566912122	chr7:112857999-112858000	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28638771	chr7:112858035-112858036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530388774	chr7:112858046-112858047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182786592	chr7:112858047-112858048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534245167	chr7:112858074-112858075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560893605	chr7:112858087-112858088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528176771	chr7:112858099-112858100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555920231	chr7:112858156-112858157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78363786	chr7:112858157-112858158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532746404	chr7:112858162-112858163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550952976	chr7:112858170-112858171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529956206	chr7:112858174-112858175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79554107	chr7:112858175-112858176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569549896	chr7:112858182-112858183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536225523	chr7:112858214-112858215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554523131	chr7:112858328-112858329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566566910	chr7:112858374-112858375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534023785	chr7:112858388-112858389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540559223	chr7:112858389-112858390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558628895	chr7:112858430-112858431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13235584	chr7:112858451-112858452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13222761	chr7:112858452-112858453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577722899	chr7:112858485-112858486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545201344	chr7:112858493-112858494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187435564	chr7:112858507-112858508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575473097	chr7:112858510-112858511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192833651	chr7:112858566-112858567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71544736	chr7:112858568-112858569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1852193	chr7:112858570-112858571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112882388	chr7:112858572-112858573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375607821	chr7:112858576-112858577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540286950	chr7:112858578-112858579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564984153	chr7:112858581-112858582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56325958	chr7:112858582-112858583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55679607	chr7:112858584-112858585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368958237	chr7:112858632-112858633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1608880	chr7:112858634-112858635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55716070	chr7:112858653-112858654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60525262	chr7:112858655-112858656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532562876	chr7:112858675-112858676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36132049	chr7:112858679-112858680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1852194	chr7:112858684-112858685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112857200-112858200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112857600-112858000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:112858000-112858200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:112858200-112859000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:112858200-112859600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links