Variant report

Variant	nsv607110
Chromosome Location	chr7:57948404-58019061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9798 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:9798 , 50 per page) page: 1 2 3 4 5 6 7 ... 196

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8188422	chr7:57948404-57948405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199656187	chr7:57948417-57948418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200806159	chr7:57948426-57948427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537001820	chr7:57948434-57948435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201604860	chr7:57948440-57948441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199920792	chr7:57948443-57948444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549020875	chr7:57948451-57948452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200768614	chr7:57948452-57948453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151141433	chr7:57948465-57948466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142528385	chr7:57948468-57948469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374438621	chr7:57948492-57948493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567523987	chr7:57948493-57948494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112267525	chr7:57948495-57948496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534592273	chr7:57948500-57948501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376449255	chr7:57948501-57948502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577404885	chr7:57948507-57948508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539593342	chr7:57948512-57948513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112429257	chr7:57948514-57948515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557785840	chr7:57948516-57948517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576038387	chr7:57948520-57948521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543766279	chr7:57948521-57948522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113159403	chr7:57948525-57948526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201376757	chr7:57948530-57948531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555810922	chr7:57948533-57948534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111983287	chr7:57948535-57948536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113703370	chr7:57948544-57948545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201975414	chr7:57948545-57948546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199498755	chr7:57948552-57948553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200424381	chr7:57948578-57948579	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60921001	chr7:57948593-57948594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190601544	chr7:57948594-57948595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533516213	chr7:57948622-57948623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545132739	chr7:57948624-57948625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563335551	chr7:57948629-57948630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530539690	chr7:57948635-57948636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548989957	chr7:57948636-57948637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77012607	chr7:57948637-57948638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2170739	chr7:57948645-57948646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36073633	chr7:57948659-57948660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546575392	chr7:57948660-57948661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540721548	chr7:57948661-57948662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571113653	chr7:57948672-57948673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376167513	chr7:57948682-57948683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557845583	chr7:57948683-57948684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569789433	chr7:57948687-57948688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111554762	chr7:57948689-57948690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555767687	chr7:57948690-57948691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573944365	chr7:57948691-57948692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113405593	chr7:57948702-57948703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112258918	chr7:57948709-57948710	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:449 , 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	chr7:57949200-57950000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:57950600-57958200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:57951000-57951600	Active TSS	Right Atrium	heart
9	chr7:57951600-57957800	Weak transcription	Right Atrium	heart
10	chr7:57955200-57958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr7:57955800-57957800	Weak transcription	NH-A	brain
12	chr7:57955800-57958000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:57955800-57958000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr7:57956400-57958200	ZNF genes & repeats	HepG2	liver
15	chr7:57956600-57956800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
16	chr7:57956600-57956800	ZNF genes & repeats	HUVEC	blood vessel
17	chr7:57956600-57958000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr7:57956600-57958400	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr7:57956800-57957800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:57956800-57957800	Weak transcription	HUVEC	blood vessel
21	chr7:57956800-57960000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr7:57957200-57958000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr7:57957200-57958000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
24	chr7:57957400-57958200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr7:57957600-57958000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr7:57957600-57958000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr7:57957600-57958000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:57957600-57958000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
29	chr7:57957600-57958200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:57957800-57958000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:57957800-57958000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:57957800-57958000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:57957800-57958000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:57957800-57958000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:57957800-57958000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
38	chr7:57957800-57958000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:57957800-57958000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:57957800-57958000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:57957800-57958000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr7:57957800-57958000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
44	chr7:57957800-57958000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
50	chr7:57957800-57958000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--

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