Variant report

Variant	nsv1032800
Chromosome Location	chr7:57950492-58019983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9628 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:9628 , 50 per page) page: 1 2 3 4 5 6 7 ... 193

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375775141	chr7:57950497-57950498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571706094	chr7:57950504-57950505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4409349	chr7:57950521-57950522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74763769	chr7:57950564-57950565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545993278	chr7:57950571-57950572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564253639	chr7:57950592-57950593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532688819	chr7:57950614-57950615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181041728	chr7:57950620-57950621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111293250	chr7:57950626-57950627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201935380	chr7:57950641-57950642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201570522	chr7:57950646-57950647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73119480	chr7:57950673-57950674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544685254	chr7:57950682-57950683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567368098	chr7:57950685-57950686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2872997	chr7:57950686-57950687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548612832	chr7:57950703-57950704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560383841	chr7:57950705-57950706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540756264	chr7:57950709-57950710	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552386423	chr7:57950717-57950718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570699237	chr7:57950726-57950727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537589368	chr7:57950739-57950740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549799707	chr7:57950751-57950752	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567972091	chr7:57950770-57950771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8185643	chr7:57950801-57950802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535395386	chr7:57950812-57950813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180832831	chr7:57950816-57950817	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185437491	chr7:57950818-57950819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553803887	chr7:57950839-57950840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572398489	chr7:57950841-57950842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539730087	chr7:57950849-57950850	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201615735	chr7:57950858-57950859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561024684	chr7:57950883-57950884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113574684	chr7:57950887-57950888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199548105	chr7:57950894-57950895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576303235	chr7:57950895-57950896	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113653537	chr7:57950901-57950902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140981670	chr7:57950904-57950905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138273082	chr7:57950927-57950928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146195697	chr7:57950934-57950935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544385893	chr7:57950935-57950936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529721472	chr7:57950936-57950937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113114901	chr7:57950937-57950938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560096745	chr7:57950939-57950940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141493840	chr7:57950940-57950941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563291056	chr7:57950946-57950947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12667473	chr7:57950951-57950952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143864659	chr7:57950956-57950957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73347466	chr7:57950963-57950964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377274230	chr7:57950974-57950975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200819141	chr7:57950980-57950981	ZNF genes & repeats Weak transcription	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:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57940800-57954400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
2	chr7:57941200-57951200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:57947200-57957800	Weak transcription	Stomach Mucosa	stomach
5	chr7:57948400-57958200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:57950600-57958200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr7:57951000-57951600	Active TSS	Right Atrium	heart
8	chr7:57951600-57957800	Weak transcription	Right Atrium	heart
9	chr7:57955200-57958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:57955800-57957800	Weak transcription	NH-A	brain
11	chr7:57955800-57958000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:57955800-57958000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr7:57956400-57958200	ZNF genes & repeats	HepG2	liver
14	chr7:57956600-57956800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
15	chr7:57956600-57956800	ZNF genes & repeats	HUVEC	blood vessel
16	chr7:57956600-57958000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr7:57956600-57958400	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr7:57956800-57957800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:57956800-57957800	Weak transcription	HUVEC	blood vessel
20	chr7:57956800-57960000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr7:57957200-57958000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr7:57957200-57958000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
23	chr7:57957400-57958200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
24	chr7:57957600-57958000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr7:57957600-57958000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr7:57957600-57958000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:57957600-57958000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr7:57957600-57958200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:57957800-57958000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:57957800-57958000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:57957800-57958000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:57957800-57958000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:57957800-57958000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:57957800-57958000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr7:57957800-57958000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:57957800-57958000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:57957800-57958000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:57957800-57958000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
42	chr7:57957800-57958000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
43	chr7:57957800-57958000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood

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