Variant report

Variant	esv2762700
Chromosome Location	chr7:118658889-118699852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118658923..118660731-chr7:118674082..118677043,2	K562	blood:
2	chr7:118683308..118685172-chr7:118689159..118691068,2	K562	blood:
3	chr7:118686305..118688542-chr7:118689075..118691425,2	MCF-7	breast:
4	chr7:118658923..118660731-chr7:118674082..118677043,2	K562	blood:
5	chr7:118686305..118688542-chr7:118689075..118691425,2	MCF-7	breast:
6	chr7:118654140..118657090-chr7:118659038..118660634,2	K562	blood:
7	chr7:118683308..118685172-chr7:118689159..118691068,2	K562	blood:

Extended variants
information (count: 447 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184954531	chr7:118658924-118658925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534029558	chr7:118658948-118658949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111674306	chr7:118658989-118658990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562304069	chr7:118659090-118659091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531395989	chr7:118659111-118659112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548128052	chr7:118659117-118659118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568244694	chr7:118659122-118659123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189811089	chr7:118659148-118659149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114804854	chr7:118659159-118659160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371928919	chr7:118659163-118659164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4512315	chr7:118659183-118659184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs4320489	chr7:118659208-118659209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs148606310	chr7:118659212-118659213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556804181	chr7:118659230-118659231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531413136	chr7:118659303-118659304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570302148	chr7:118659312-118659313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181043554	chr7:118659340-118659341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536082579	chr7:118659343-118659344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372973771	chr7:118659393-118659394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556052661	chr7:118659445-118659446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185517315	chr7:118659459-118659460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540236290	chr7:118659526-118659527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370224215	chr7:118659531-118659532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191350231	chr7:118659660-118659661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576542737	chr7:118659687-118659688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183661294	chr7:118659702-118659703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10271908	chr7:118659764-118659765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531432768	chr7:118659782-118659783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541645168	chr7:118659786-118659787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186890912	chr7:118659799-118659800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527563684	chr7:118659811-118659812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142080784	chr7:118659845-118659846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11978767	chr7:118659848-118659849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs151147789	chr7:118659863-118659864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10242888	chr7:118659886-118659887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192145822	chr7:118659903-118659904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183967796	chr7:118659952-118659953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373785160	chr7:118659958-118659959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186604167	chr7:118659974-118659975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555644184	chr7:118660041-118660042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576455371	chr7:118660057-118660058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566381759	chr7:118660070-118660071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191461147	chr7:118660103-118660104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10243067	chr7:118660162-118660163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139532749	chr7:118660182-118660183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539027687	chr7:118660218-118660219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562478678	chr7:118660249-118660250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182440291	chr7:118660318-118660319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542031322	chr7:118660327-118660328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561686376	chr7:118660338-118660339	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118657800-118666400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:118661200-118661400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:118666400-118666600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:118677400-118678400	Enhancers	Liver	Liver
5	chr7:118695200-118697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:118695400-118697800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:118697000-118697400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:118697200-118697600	Enhancers	Aorta	Aorta

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