Variant report

Variant	nsv607112
Chromosome Location	chr7:57992609-58051868
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	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
2	chr4:94030168..94030688-chr7:58043283..58043804,2	MCF-7	breast:

Extended variants
information (count: 7872 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:7872 , 50 per page) page: 1 2 3 4 5 6 7 ... 158

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78445338	chr7:57992609-57992610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs1825976	chr7:57992612-57992613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201423602	chr7:57992615-57992616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs199610059	chr7:57992617-57992618	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370509485	chr7:57992626-57992627	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143164606	chr7:57992627-57992628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142006354	chr7:57992630-57992631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148782594	chr7:57992632-57992633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374142281	chr7:57992633-57992634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150934482	chr7:57992639-57992640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs36145914	chr7:57992642-57992643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145470280	chr7:57992645-57992646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs368383025	chr7:57992651-57992652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs371468193	chr7:57992656-57992657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs374745516	chr7:57992657-57992658	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs367621902	chr7:57992659-57992660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371794728	chr7:57992660-57992661	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376624972	chr7:57992667-57992668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs367909082	chr7:57992669-57992670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372070637	chr7:57992673-57992674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141838097	chr7:57992676-57992677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149077470	chr7:57992685-57992686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376987665	chr7:57992688-57992689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs199738829	chr7:57992692-57992693	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs537392203	chr7:57992694-57992695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373903501	chr7:57992697-57992698	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111681903	chr7:57992708-57992709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200720121	chr7:57992711-57992712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs555697658	chr7:57992713-57992714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573911123	chr7:57992726-57992727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs111860207	chr7:57992728-57992729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs541212993	chr7:57992737-57992738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs370133237	chr7:57992738-57992739	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs140032945	chr7:57992740-57992741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs111830126	chr7:57992744-57992745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs151134239	chr7:57992749-57992750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150441484	chr7:57992750-57992751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143316796	chr7:57992751-57992752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200697441	chr7:57992752-57992753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs202037401	chr7:57992756-57992757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139524427	chr7:57992757-57992758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs146515923	chr7:57992759-57992760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs138827431	chr7:57992761-57992762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150206144	chr7:57992764-57992765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149631864	chr7:57992765-57992766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs137908614	chr7:57992768-57992769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200724164	chr7:57992769-57992770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201330068	chr7:57992770-57992771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs199987202	chr7:57992778-57992779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144547912	chr7:57992779-57992780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	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
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:57959600-58001600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:57970600-58002000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:57979000-58001800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:57990600-57994000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:57990800-57996400	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr7:57992200-57996000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:57992400-57996600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr7:57992600-57996200	ZNF genes & repeats	Liver	Liver
10	chr7:57993200-57996000	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr7:57993800-57994600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:57993800-57996400	ZNF genes & repeats	HepG2	liver
13	chr7:57994000-57994400	Active TSS	Aorta	Aorta
14	chr7:57994000-57994400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr7:57994000-57994800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:57994200-57994400	ZNF genes & repeats	Left Ventricle	heart
17	chr7:57994200-57994600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr7:57994200-57994600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
19	chr7:57994200-57994600	Active TSS	Right Atrium	heart
20	chr7:57994200-57994600	ZNF genes & repeats	HUVEC	blood vessel
21	chr7:57994200-57994800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
22	chr7:57994200-57996200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr7:57994400-57995600	Weak transcription	Aorta	Aorta
24	chr7:57994400-57995600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:57994600-57995400	Weak transcription	HUVEC	blood vessel
26	chr7:57994800-57995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:57995200-57996400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr7:57995400-57995600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:57995400-57996000	ZNF genes & repeats	HUVEC	blood vessel
30	chr7:57995600-57995800	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:57995600-57995800	ZNF genes & repeats	NHLF	lung
32	chr7:57995600-57996000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:57995600-57996000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:57995600-57996000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:57995600-57996000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr7:57995600-57996000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:57995600-57996000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
38	chr7:57995600-57996000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr7:57995600-57996000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:57995600-57996000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:57995600-57996000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr7:57995600-57996000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:57995600-57996000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:57995600-57996000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr7:57995600-57996000	ZNF genes & repeats	Aorta	Aorta
46	chr7:57995600-57996000	ZNF genes & repeats	Brain Angular Gyrus	brain
47	chr7:57995600-57996000	ZNF genes & repeats	Brain Anterior Caudate	brain
48	chr7:57995600-57996000	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr7:57995600-57996000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr7:57995600-57996000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain

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