Variant report

Variant	esv2761356
Chromosome Location	chr7:109908160-109913020
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	chr7:109860312..109862571-chr7:109908993..109910664,2	K562	blood:
2	chr7:109912170..109914601-chr7:109915373..109917923,3	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148040104	chr7:109910012-109910013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187763735	chr7:109910020-109910021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559640321	chr7:109910092-109910093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371169122	chr7:109910101-109910102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115665402	chr7:109910111-109910112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7779508	chr7:109910153-109910154	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs574574331	chr7:109910221-109910222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs543474956	chr7:109910238-109910239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377104493	chr7:109910308-109910309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs6949438	chr7:109910373-109910374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111428506	chr7:109910472-109910473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545234401	chr7:109910494-109910495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192449819	chr7:109910502-109910503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563422077	chr7:109910528-109910529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559588768	chr7:109910538-109910539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553503958	chr7:109910548-109910549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143595666	chr7:109910559-109910560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548192936	chr7:109910582-109910583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184799197	chr7:109910595-109910596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539253310	chr7:109910606-109910607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544585378	chr7:109910623-109910624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115161574	chr7:109910633-109910634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13224789	chr7:109910636-109910637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570165271	chr7:109910672-109910673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575030471	chr7:109910715-109910716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552639269	chr7:109910721-109910722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561296693	chr7:109910753-109910754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528479915	chr7:109910780-109910781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146238505	chr7:109910781-109910782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542430162	chr7:109910826-109910827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574466221	chr7:109910836-109910837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537153375	chr7:109910924-109910925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556996963	chr7:109910950-109910951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138908682	chr7:109910981-109910982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367656324	chr7:109911042-109911043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189770711	chr7:109911063-109911064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75599175	chr7:109911072-109911073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192042667	chr7:109911077-109911078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113443314	chr7:109911126-109911127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561668865	chr7:109911134-109911135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377301537	chr7:109911139-109911140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184198001	chr7:109911162-109911163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546889052	chr7:109911207-109911208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564203214	chr7:109911232-109911233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532621038	chr7:109911263-109911264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552719877	chr7:109911274-109911275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188949311	chr7:109911296-109911297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549911572	chr7:109911306-109911307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12671447	chr7:109911336-109911337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs568124823	chr7:109911337-109911338	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109910000-109910400	ZNF genes & repeats	Dnd41	blood
2	chr7:109910400-109911200	Weak transcription	Dnd41	blood
3	chr7:109911200-109911600	Enhancers	Dnd41	blood
4	chr7:109911600-109930600	Weak transcription	Dnd41	blood

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