Variant report

Variant	esv3392963
Chromosome Location	chr7:112853516-112855464
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112853228..112855438-chr7:112868395..112871315,2	K562	blood:
2	chr7:112854163..112856387-chr7:112856648..112858157,2	MCF-7	breast:
3	chr7:112845581..112848616-chr7:112850050..112854250,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537777417	chr7:112853527-112853528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556107942	chr7:112853553-112853554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538131821	chr7:112853858-112853859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554868646	chr7:112853931-112853932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180840545	chr7:112853932-112853933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371857008	chr7:112853955-112853956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184466784	chr7:112854043-112854044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149420620	chr7:112854123-112854124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568440254	chr7:112854193-112854194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547823556	chr7:112854202-112854203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566187615	chr7:112854218-112854219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533946692	chr7:112854227-112854228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552378624	chr7:112854273-112854274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535840592	chr7:112854274-112854275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143972033	chr7:112854293-112854294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112061376	chr7:112854294-112854295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35688170	chr7:112854295-112854296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3083783	chr7:112854297-112854298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201424468	chr7:112854298-112854299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199557935	chr7:112854300-112854301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371788544	chr7:112854322-112854323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370933287	chr7:112854360-112854361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148305660	chr7:112854361-112854362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2396605	chr7:112854376-112854377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60120261	chr7:112854378-112854379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113708610	chr7:112854380-112854381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66539938	chr7:112854384-112854385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35351662	chr7:112854387-112854388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200110983	chr7:112854480-112854481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538132635	chr7:112854660-112854661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1917763	chr7:112854661-112854662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574326939	chr7:112854670-112854671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182185771	chr7:112854686-112854687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553419634	chr7:112854703-112854704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558775595	chr7:112854736-112854737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186816457	chr7:112854785-112854786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190647995	chr7:112854909-112854910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144842784	chr7:112854946-112854947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1525309	chr7:112855011-112855012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181750738	chr7:112855122-112855123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76230817	chr7:112855155-112855156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529247343	chr7:112855176-112855177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190377713	chr7:112855221-112855222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182733686	chr7:112855239-112855240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148552775	chr7:112855288-112855289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187663842	chr7:112855332-112855333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557862726	chr7:112855334-112855335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570655969	chr7:112855389-112855390	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112853400-112853600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:112853800-112856400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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