Variant report

Variant	nsv888105
Chromosome Location	chr7:61125714-61245220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 992 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62452533	chr7:61146000-61146001	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200578677	chr7:61146012-61146013	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201372021	chr7:61146024-61146025	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372001062	chr7:61146086-61146087	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199851761	chr7:61146099-61146100	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200768207	chr7:61146107-61146108	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201932022	chr7:61146119-61146120	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs199811969	chr7:61146120-61146121	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182634677	chr7:61146138-61146139	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112514288	chr7:61146155-61146156	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370247110	chr7:61146159-61146160	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112089281	chr7:61146281-61146282	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376064867	chr7:61146332-61146333	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575514034	chr7:61146353-61146354	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536798924	chr7:61164421-61164422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199847216	chr7:61164661-61164662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200884699	chr7:61164729-61164730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201676122	chr7:61164732-61164733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113712038	chr7:61164748-61164749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200657166	chr7:61164750-61164751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201924238	chr7:61164762-61164763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200062834	chr7:61164768-61164769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200988968	chr7:61164776-61164777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111984729	chr7:61164803-61164804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555202157	chr7:61164996-61164997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573548189	chr7:61165244-61165245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62453134	chr7:61165453-61165454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375941942	chr7:61165481-61165482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571761586	chr7:61165640-61165641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577168904	chr7:61165641-61165642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369729971	chr7:61165646-61165647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186624554	chr7:61165889-61165890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62453135	chr7:61165909-61165910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371896395	chr7:61165915-61165916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375717633	chr7:61165942-61165943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200140985	chr7:61165943-61165944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373055555	chr7:61165944-61165945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376272573	chr7:61165948-61165949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376557783	chr7:61165951-61165952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185372386	chr7:61165955-61165956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369097787	chr7:61165967-61165968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372878169	chr7:61166042-61166043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201235017	chr7:61166153-61166154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375674872	chr7:61166154-61166155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191470341	chr7:61166161-61166162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544322998	chr7:61166166-61166167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183905159	chr7:61166167-61166168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369070997	chr7:61166175-61166176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201991050	chr7:61166182-61166183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373841656	chr7:61166201-61166202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Lung cancer	18438408	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

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61146000-61146400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:61146000-61146400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:61164400-61171800	Weak transcription	K562	blood
4	chr7:61164800-61171200	Weak transcription	HUVEC	blood vessel
5	chr7:61171200-61171400	ZNF genes & repeats	A549	lung
6	chr7:61171200-61171400	ZNF genes & repeats	GM12878-XiMat	blood
7	chr7:61171200-61171400	ZNF genes & repeats	Hela-S3	cervix
8	chr7:61171200-61171400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr7:61171200-61171400	ZNF genes & repeats	Osteobl	bone
10	chr7:61171200-61172000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:61171200-61172000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:61171200-61172000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:61171200-61172000	ZNF genes & repeats	HUVEC	blood vessel
14	chr7:61171800-61172000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr7:61171800-61172000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr7:61171800-61172000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:61171800-61172000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr7:61171800-61172000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:61171800-61172000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr7:61171800-61172000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr7:61171800-61172000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr7:61171800-61172000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr7:61171800-61172000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr7:61171800-61172000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr7:61171800-61172000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:61171800-61172000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:61171800-61172000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:61171800-61172000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:61171800-61172000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:61171800-61172000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr7:61171800-61172000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr7:61171800-61172000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:61171800-61172000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr7:61171800-61172000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
41	chr7:61171800-61172000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:61171800-61172000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr7:61171800-61172000	Enhancers	Aorta	Aorta
44	chr7:61171800-61172000	Flanking Bivalent TSS/Enh	Liver	Liver
45	chr7:61171800-61172000	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr7:61171800-61172000	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr7:61171800-61172000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr7:61171800-61172000	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr7:61171800-61172000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr7:61171800-61172000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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