Variant report

Variant	esv3430480
Chromosome Location	chr7:121218971-121219483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181546364	chr7:121218979-121218980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17132759	chr7:121218993-121218994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566526892	chr7:121219016-121219017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150859101	chr7:121219059-121219060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558504983	chr7:121219080-121219081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115854130	chr7:121219086-121219087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139962823	chr7:121219094-121219095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184800769	chr7:121219131-121219132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574801298	chr7:121219132-121219133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576346654	chr7:121219143-121219144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540786335	chr7:121219149-121219150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55818559	chr7:121219150-121219151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189259654	chr7:121219156-121219157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17132763	chr7:121219181-121219182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559182625	chr7:121219190-121219191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113063412	chr7:121219217-121219218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145414364	chr7:121219231-121219232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572219574	chr7:121219235-121219236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548607562	chr7:121219255-121219256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147725794	chr7:121219301-121219302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140873735	chr7:121219313-121219314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566578068	chr7:121219338-121219339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149854876	chr7:121219345-121219346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552028110	chr7:121219348-121219349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568613479	chr7:121219422-121219423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62472548	chr7:121219425-121219426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17143547	chr7:121219433-121219434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185977133	chr7:121219450-121219451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532921877	chr7:121219454-121219455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534250008	chr7:121219478-121219479	Weak transcription	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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121216600-121221800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:121216800-121221600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:121216800-121221800	Weak transcription	Pancreas	Pancrea

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