Variant report

Variant	nsv428166
Chromosome Location	chr7:61056610-61276601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6095 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:6095 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558365142	chr7:61056629-61056630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371628526	chr7:61056630-61056631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374228785	chr7:61056631-61056632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576703900	chr7:61056640-61056641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368599657	chr7:61056658-61056659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372053098	chr7:61056661-61056662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9314247	chr7:61056683-61056684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544121465	chr7:61056694-61056695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10447890	chr7:61056726-61056727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370049184	chr7:61056727-61056728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2311112	chr7:61056730-61056731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10253110	chr7:61056737-61056738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60394029	chr7:61056742-61056743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368058497	chr7:61056756-61056757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10447888	chr7:61056757-61056758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75440081	chr7:61056761-61056762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77617144	chr7:61056763-61056764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2311111	chr7:61056767-61056768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2871672	chr7:61056773-61056774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10447889	chr7:61056777-61056778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75560595	chr7:61056783-61056784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377112992	chr7:61056784-61056785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112510810	chr7:61056794-61056795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62460217	chr7:61056797-61056798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74220569	chr7:61056800-61056801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62460218	chr7:61056801-61056802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36187231	chr7:61056805-61056806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200660612	chr7:61056807-61056808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150745188	chr7:61056815-61056816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201993810	chr7:61056818-61056819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71050809	chr7:61056820-61056821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57506940	chr7:61056826-61056827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200113674	chr7:61056827-61056828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200543298	chr7:61056832-61056833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9719137	chr7:61056834-61056835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146545091	chr7:61056838-61056839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200090721	chr7:61056840-61056841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137980137	chr7:61056841-61056842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75905567	chr7:61056849-61056850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74667704	chr7:61056856-61056857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9314251	chr7:61056876-61056877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77989733	chr7:61056878-61056879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35477534	chr7:61056898-61056899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9314252	chr7:61056902-61056903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9801099	chr7:61056920-61056921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71548941	chr7:61056925-61056926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62460219	chr7:61056948-61056949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374009829	chr7:61056962-61056963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375920988	chr7:61056968-61056969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148942400	chr7:61056998-61056999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	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
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61055800-61058000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:61055800-61058000	Weak transcription	Adipose Nuclei	Adipose
3	chr7:61061600-61062000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:61070800-61071200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:61073400-61079000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:61074400-61074600	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:61074600-61079000	Weak transcription	Pancreas	Pancrea
8	chr7:61077400-61079000	Weak transcription	Fetal Heart	heart
9	chr7:61078600-61079000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:61078800-61079000	Enhancers	Aorta	Aorta
11	chr7:61078800-61086000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr7:61079000-61079200	Bivalent/Poised TSS	Esophagus	oesophagus
13	chr7:61079000-61079400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:61079000-61079400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:61079000-61079400	ZNF genes & repeats	Pancreas	Pancrea
16	chr7:61079000-61079600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
17	chr7:61079000-61079600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
18	chr7:61079000-61079600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
19	chr7:61079000-61079600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr7:61079000-61079600	ZNF genes & repeats	Fetal Thymus	thymus
21	chr7:61079000-61079600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
22	chr7:61079000-61079800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr7:61079000-61079800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:61079000-61079800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:61079000-61079800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
26	chr7:61079000-61079800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:61079000-61079800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:61079000-61079800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:61079000-61079800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:61079000-61079800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
32	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
34	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:61079000-61079800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr7:61079000-61079800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
39	chr7:61079000-61079800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:61079000-61079800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
41	chr7:61079000-61079800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:61079000-61079800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr7:61079000-61079800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr7:61079000-61079800	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr7:61079000-61079800	Flanking Active TSS	Aorta	Aorta
46	chr7:61079000-61079800	ZNF genes & repeats	Liver	Liver
47	chr7:61079000-61079800	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr7:61079000-61079800	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr7:61079000-61079800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr7:61079000-61079800	ZNF genes & repeats	Brain Hippocampus Middle	brain

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