Variant report

Variant	esv2756600
Chromosome Location	chr7:108593241-108607230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:108591189..108592950-chr7:108595377..108596962,2	K562	blood:
2	chr7:108603723..108606503-chr7:108609757..108612627,3	MCF-7	breast:
3	chr7:108590037..108592950-chr7:108595377..108597587,3	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561189724	chr7:108595604-108595605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530117030	chr7:108595615-108595616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187307450	chr7:108595616-108595617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372895348	chr7:108595628-108595629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148244153	chr7:108595630-108595631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141359031	chr7:108595637-108595638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs275551	chr7:108595645-108595646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147419105	chr7:108595664-108595665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192030404	chr7:108595714-108595715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137930878	chr7:108595743-108595744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542947912	chr7:108595761-108595762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113847354	chr7:108595778-108595779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537142643	chr7:108595789-108595790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184626658	chr7:108595799-108595800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536099085	chr7:108595875-108595876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190460304	chr7:108595902-108595903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11768295	chr7:108595963-108595964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs11768328	chr7:108596014-108596015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs147135815	chr7:108596065-108596066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73424667	chr7:108596103-108596104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139531241	chr7:108596108-108596109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193077161	chr7:108596122-108596123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558645386	chr7:108596158-108596159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543501782	chr7:108596230-108596231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185867545	chr7:108596294-108596295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532343449	chr7:108596299-108596300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77361936	chr7:108596334-108596335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559521382	chr7:108596350-108596351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528758885	chr7:108596374-108596375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533061266	chr7:108596376-108596377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367739825	chr7:108596410-108596411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568658651	chr7:108596459-108596460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566956731	chr7:108596500-108596501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557271850	chr7:108596578-108596579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149691785	chr7:108596599-108596600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570585852	chr7:108596601-108596602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539031031	chr7:108596618-108596619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578118699	chr7:108596884-108596885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575388643	chr7:108596948-108596949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189075434	chr7:108596976-108596977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566374503	chr7:108597008-108597009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370235893	chr7:108597043-108597044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542923827	chr7:108597058-108597059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535739271	chr7:108597096-108597097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144806689	chr7:108597098-108597099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374277362	chr7:108597115-108597116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148548900	chr7:108597123-108597124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561213449	chr7:108597158-108597159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144507624	chr7:108597211-108597212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557001084	chr7:108597268-108597269	Weak transcription Enhancers	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
Melanoma	17363583	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108595600-108598200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:108597200-108597600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:108598200-108598600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:108606200-108606400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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