Variant report

Variant	esv3414365
Chromosome Location	chr7:146528819-146530867
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	chr7:146500988..146503359-chr7:146527735..146530660,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551911779	chr7:146529241-146529242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142415181	chr7:146529309-146529310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369853592	chr7:146529342-146529343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556040401	chr7:146529357-146529358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369157244	chr7:146529488-146529489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563025560	chr7:146529526-146529527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187219941	chr7:146529547-146529548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190953075	chr7:146529558-146529559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548777413	chr7:146529562-146529563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200037272	chr7:146529595-146529596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562110360	chr7:146529615-146529616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28648535	chr7:146529693-146529694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527992525	chr7:146529709-146529710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144665811	chr7:146529711-146529712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571155662	chr7:146529716-146529717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577526039	chr7:146529762-146529763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529130551	chr7:146529763-146529764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568942806	chr7:146529764-146529765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551868585	chr7:146529771-146529772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371934317	chr7:146529772-146529773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111974923	chr7:146529773-146529774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533896710	chr7:146529791-146529792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534458194	chr7:146529810-146529811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185971209	chr7:146529879-146529880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190038861	chr7:146529928-146529929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138552391	chr7:146529929-146529930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141139617	chr7:146529936-146529937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553696019	chr7:146529937-146529938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572133263	chr7:146529944-146529945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546210574	chr7:146529962-146529963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75814474	chr7:146530023-146530024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562703344	chr7:146530029-146530030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576501467	chr7:146530040-146530041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73459353	chr7:146530087-146530088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562278811	chr7:146530205-146530206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555028514	chr7:146530239-146530240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567276178	chr7:146530332-146530333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74343393	chr7:146530345-146530346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561513877	chr7:146530380-146530381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376142431	chr7:146530448-146530449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574540406	chr7:146530449-146530450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35611573	chr7:146530503-146530504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375755414	chr7:146530506-146530507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139183159	chr7:146530567-146530568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537950182	chr7:146530586-146530587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531946213	chr7:146530636-146530637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548019057	chr7:146530731-146530732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567811300	chr7:146530734-146530735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533765666	chr7:146530756-146530757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149516706	chr7:146530772-146530773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146529200-146529400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:146529400-146537800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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