Variant report

Variant	esv2761125
Chromosome Location	chr7:109429577-109463249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:109452833..109454349-chr7:109467899..109470407,2	K562	blood:
2	chr12:95693010..95693732-chr7:109461830..109462660,2	MCF-7	breast:

Extended variants
information (count: 105 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562263360	chr7:109434606-109434607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs1949799	chr7:109434613-109434614	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550743183	chr7:109434709-109434710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571007154	chr7:109434725-109434726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533630261	chr7:109434731-109434732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546990012	chr7:109434768-109434769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs547301921	chr7:109434794-109434795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554731985	chr7:109434816-109434817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs3114784	chr7:109434826-109434827	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7800671	chr7:109434827-109434828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540283928	chr7:109434829-109434830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs565389084	chr7:109434845-109434846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531862120	chr7:109434903-109434904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186321259	chr7:109434945-109434946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538383352	chr7:109434997-109434998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs7800993	chr7:109435035-109435036	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532368657	chr7:109435048-109435049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577764682	chr7:109435050-109435051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567937341	chr7:109435053-109435054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562773987	chr7:109435059-109435060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs57415054	chr7:109435061-109435062	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530002542	chr7:109435062-109435063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183592553	chr7:109435104-109435105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111692646	chr7:109435143-109435144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556815638	chr7:109435171-109435172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185969389	chr7:109435175-109435176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2091162	chr7:109435188-109435189	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149856631	chr7:109435197-109435198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544708792	chr7:109435213-109435214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62480273	chr7:109435214-109435215	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139877308	chr7:109435223-109435224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547245619	chr7:109435224-109435225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567032979	chr7:109435226-109435227	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181456433	chr7:109435241-109435242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190574666	chr7:109435242-109435243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183105607	chr7:109435246-109435247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145344003	chr7:109435278-109435279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10229666	chr7:109435282-109435283	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557978317	chr7:109435287-109435288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535451335	chr7:109435288-109435289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373920284	chr7:109435297-109435298	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74606510	chr7:109435326-109435327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140791215	chr7:109435336-109435337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187792043	chr7:109435337-109435338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2091161	chr7:109435343-109435344	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4430026	chr7:109435365-109435366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373212038	chr7:109435374-109435375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555695278	chr7:109435395-109435396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575644160	chr7:109435405-109435406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544671730	chr7:109435422-109435423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109434600-109435200	ZNF genes & repeats	Dnd41	blood
2	chr7:109435000-109435400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:109435200-109435800	Weak transcription	Dnd41	blood
4	chr7:109435800-109436000	Enhancers	Dnd41	blood
5	chr7:109463000-109463600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:109463200-109463600	Enhancers	HUES48 Cell Line	embryonic stem cell

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