Variant report

Variant	esv3383614
Chromosome Location	chr7:109738803-109739281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531007768	chr7:109738805-109738806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs544432202	chr7:109738812-109738813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12705662	chr7:109738842-109738843	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79353960	chr7:109738844-109738845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562256014	chr7:109738845-109738846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546538713	chr7:109738851-109738852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566752169	chr7:109738865-109738866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138131766	chr7:109738883-109738884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532091810	chr7:109738895-109738896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs376870085	chr7:109738938-109738939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548548387	chr7:109738961-109738962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375375383	chr7:109738965-109738966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74586496	chr7:109739016-109739017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188301062	chr7:109739065-109739066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192810974	chr7:109739068-109739069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368672193	chr7:109739094-109739095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183756739	chr7:109739095-109739096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs367967596	chr7:109739121-109739122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187603635	chr7:109739134-109739135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371739255	chr7:109739180-109739181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200446166	chr7:109739208-109739209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192636360	chr7:109739213-109739214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149596883	chr7:109739252-109739253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555762803	chr7:109739265-109739266	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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