Variant report

Variant	esv2761379
Chromosome Location	chr7:146347722-146448412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
2	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
3	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:
4	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
5	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
6	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
7	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:

Extended variants
information (count: 1934 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184835877	chr7:146347740-146347741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572138047	chr7:146347754-146347755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs344480	chr7:146347815-146347816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189616786	chr7:146347887-146347888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533227933	chr7:146347899-146347900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576455414	chr7:146347992-146347993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550120176	chr7:146347994-146347995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540694424	chr7:146348027-146348028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182157232	chr7:146348038-146348039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs344479	chr7:146348059-146348060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549198007	chr7:146348062-146348063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566209387	chr7:146348066-146348067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534882951	chr7:146348069-146348070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138675635	chr7:146348075-146348076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141796115	chr7:146348077-146348078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116327556	chr7:146348080-146348081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78746748	chr7:146348088-146348089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146240576	chr7:146348106-146348107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186769124	chr7:146348108-146348109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555168113	chr7:146348125-146348126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114124485	chr7:146348129-146348130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139644732	chr7:146348134-146348135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191665077	chr7:146348147-146348148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557955128	chr7:146348158-146348159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542457654	chr7:146348162-146348163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577914777	chr7:146348271-146348272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372894261	chr7:146348316-146348317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543699797	chr7:146348328-146348329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369347420	chr7:146348406-146348407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201689725	chr7:146348431-146348432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547112284	chr7:146348434-146348435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6977996	chr7:146348470-146348471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73739759	chr7:146348499-146348500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73739761	chr7:146348548-146348549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1948489	chr7:146348562-146348563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564445079	chr7:146348587-146348588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144246326	chr7:146348600-146348601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148708795	chr7:146348633-146348634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59420934	chr7:146348778-146348779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181147460	chr7:146348788-146348789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142457832	chr7:146348803-146348804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113160844	chr7:146348823-146348824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185607645	chr7:146348861-146348862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555377130	chr7:146348870-146348871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373839061	chr7:146348890-146348891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147969021	chr7:146348898-146348899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140177610	chr7:146348901-146348902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546761021	chr7:146348910-146348911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557895803	chr7:146348977-146348978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577902624	chr7:146348979-146348980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146343400-146348800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:146345200-146348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:146345200-146353200	Weak transcription	Fetal Thymus	thymus
4	chr7:146345400-146348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:146348200-146352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:146348400-146355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:146348600-146355000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:146348800-146350400	Enhancers	Primary hematopoietic stem cells	blood
9	chr7:146350000-146351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:146350400-146351400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:146350800-146351600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:146350800-146351600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:146351000-146351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:146351200-146351400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:146351400-146352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:146351400-146352600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:146351400-146354600	Enhancers	Primary hematopoietic stem cells	blood
18	chr7:146351600-146353600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:146352200-146352400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:146352400-146353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:146352600-146353400	Enhancers	Fetal Kidney	kidney
22	chr7:146352600-146354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:146352800-146353800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:146353000-146353400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:146353000-146353400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:146353000-146353400	Enhancers	Fetal Brain Male	brain
27	chr7:146353000-146353400	Enhancers	Fetal Lung	lung
28	chr7:146353000-146353800	Enhancers	Fetal Brain Female	brain
29	chr7:146353200-146353800	Enhancers	Fetal Thymus	thymus
30	chr7:146353200-146354000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:146353400-146357800	Weak transcription	Fetal Lung	lung
32	chr7:146353400-146358000	Weak transcription	Fetal Brain Male	brain
33	chr7:146353600-146353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:146353600-146354000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:146353800-146354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:146353800-146355000	Weak transcription	Fetal Thymus	thymus
37	chr7:146353800-146358000	Weak transcription	Fetal Brain Female	brain
38	chr7:146354600-146356000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:146354800-146355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:146355000-146355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:146355000-146358400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:146355200-146355400	Enhancers	Fetal Thymus	thymus
43	chr7:146355400-146356600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:146355800-146358000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:146356000-146356200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:146356000-146356400	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:146356400-146358200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:146356600-146357800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:146357800-146358200	Enhancers	Fetal Heart	heart
50	chr7:146357800-146358600	Enhancers	Fetal Lung	lung

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