Variant report

Variant	esv3438985
Chromosome Location	chr7:146231869-146233167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553292373	chr7:146231873-146231874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536772219	chr7:146231988-146231989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190079723	chr7:146231996-146231997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559088310	chr7:146232018-146232019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558608195	chr7:146232019-146232020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577335434	chr7:146232095-146232096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60837142	chr7:146232102-146232103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561372122	chr7:146232108-146232109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559574031	chr7:146232128-146232129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574803353	chr7:146232152-146232153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55677502	chr7:146232176-146232177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28633925	chr7:146232182-146232183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11767983	chr7:146232183-146232184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58486216	chr7:146232188-146232189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71536210	chr7:146232193-146232194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13224866	chr7:146232195-146232196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56313343	chr7:146232196-146232197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71165011	chr7:146232204-146232205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57298104	chr7:146232205-146232206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372094011	chr7:146232206-146232207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542447617	chr7:146232207-146232208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376687116	chr7:146232215-146232216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6967050	chr7:146232216-146232217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60950765	chr7:146232218-146232219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370018150	chr7:146232220-146232221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11768013	chr7:146232221-146232222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367644343	chr7:146232222-146232223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372847628	chr7:146232226-146232227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540577671	chr7:146232227-146232228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559264596	chr7:146232228-146232229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528093133	chr7:146232232-146232233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551422856	chr7:146232233-146232234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59547823	chr7:146232234-146232235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376304349	chr7:146232239-146232240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369424137	chr7:146232246-146232247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11768017	chr7:146232253-146232254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372804793	chr7:146232255-146232256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375767418	chr7:146232257-146232258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56723275	chr7:146232258-146232259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59545566	chr7:146232263-146232264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370219510	chr7:146232269-146232270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57369881	chr7:146232270-146232271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60961965	chr7:146232279-146232280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372430966	chr7:146232281-146232282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58720742	chr7:146232288-146232289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13235309	chr7:146232289-146232290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13222104	chr7:146232290-146232291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13235312	chr7:146232296-146232297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13222108	chr7:146232297-146232298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376459083	chr7:146232303-146232304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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