Variant report

Variant	esv3375734
Chromosome Location	chr7:109739176-109741242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371739255	chr7:109739180-109739181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs200446166	chr7:109739208-109739209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192636360	chr7:109739213-109739214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149596883	chr7:109739252-109739253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555762803	chr7:109739265-109739266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536939755	chr7:109739351-109739352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1723638	chr7:109739366-109739367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146577162	chr7:109739400-109739401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183547932	chr7:109739411-109739412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188329980	chr7:109739457-109739458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368537283	chr7:109739482-109739483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1722036	chr7:109739508-109739509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192890656	chr7:109739523-109739524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560217253	chr7:109739558-109739559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62478606	chr7:109739560-109739561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548585841	chr7:109739561-109739562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375877266	chr7:109739584-109739585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573255754	chr7:109739618-109739619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531314078	chr7:109739671-109739672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551226938	chr7:109739729-109739730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184573043	chr7:109739770-109739771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189847657	chr7:109739777-109739778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181529345	chr7:109739780-109739781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576899230	chr7:109739794-109739795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13245289	chr7:109739837-109739838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536125464	chr7:109739842-109739843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555799722	chr7:109739877-109739878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575671406	chr7:109739881-109739882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538236143	chr7:109739884-109739885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13245408	chr7:109739946-109739947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1722037	chr7:109739947-109739948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143630490	chr7:109739963-109739964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1722038	chr7:109739969-109739970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560261263	chr7:109739986-109739987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187123723	chr7:109740113-109740114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542471496	chr7:109740120-109740121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376600085	chr7:109740123-109740124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562431765	chr7:109740127-109740128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531251602	chr7:109740131-109740132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369758073	chr7:109740147-109740148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189387137	chr7:109740161-109740162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182089630	chr7:109740189-109740190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527344060	chr7:109740204-109740205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185278810	chr7:109740250-109740251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567021939	chr7:109740286-109740287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189689556	chr7:109740293-109740294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543803706	chr7:109740312-109740313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182870992	chr7:109740317-109740318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569571120	chr7:109740357-109740358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542084690	chr7:109740358-109740359	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
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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109738200-109739200	ZNF genes & repeats	Dnd41	blood
2	chr7:109739200-109755800	Weak transcription	Dnd41	blood

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