Variant report

Variant	esv3333937
Chromosome Location	chr7:57938110-58002908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9009 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:9009 , 50 per page) page: 1 2 3 4 5 6 7 ... 181

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370199076	chr7:57939205-57939206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373191422	chr7:57939210-57939211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537877924	chr7:57939214-57939215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376458453	chr7:57939217-57939218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541944986	chr7:57939221-57939222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149490150	chr7:57939222-57939223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561579178	chr7:57939225-57939226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540088910	chr7:57939240-57939241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573544450	chr7:57939241-57939242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540852880	chr7:57939245-57939246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565507836	chr7:57939259-57939260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs199737755	chr7:57939260-57939261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201620439	chr7:57939269-57939270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146587390	chr7:57939270-57939271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145686863	chr7:57939278-57939279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142725194	chr7:57939283-57939284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs150752273	chr7:57939288-57939289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370527518	chr7:57939304-57939305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139101756	chr7:57939329-57939330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553757484	chr7:57939331-57939332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562555929	chr7:57939336-57939337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112072033	chr7:57939349-57939350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs12673710	chr7:57939366-57939367	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs13232730	chr7:57939384-57939385	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13225036	chr7:57939391-57939392	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201998795	chr7:57939398-57939399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552035286	chr7:57939403-57939404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570351077	chr7:57939420-57939421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs12672108	chr7:57939421-57939422	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111326192	chr7:57939448-57939449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs149456616	chr7:57939473-57939474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs140082582	chr7:57939480-57939481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201556281	chr7:57939486-57939487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199562601	chr7:57939489-57939490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs557180170	chr7:57939490-57939491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531800561	chr7:57939495-57939496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200618678	chr7:57939497-57939498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536267848	chr7:57939500-57939501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201490918	chr7:57939529-57939530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62459377	chr7:57939533-57939534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573253111	chr7:57939535-57939536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs181991877	chr7:57939544-57939545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs143522389	chr7:57939548-57939549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550480358	chr7:57939549-57939550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112496724	chr7:57939551-57939552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74642965	chr7:57939577-57939578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs567337962	chr7:57939583-57939584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544750493	chr7:57939584-57939585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs117771841	chr7:57939586-57939587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148525743	chr7:57939590-57939591	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:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57939200-57947200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:57940400-57947800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:57940600-57941800	ZNF genes & repeats	Fetal Brain Male	brain
4	chr7:57940800-57941200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
5	chr7:57940800-57954400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr7:57941000-57941200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr7:57941000-57941400	ZNF genes & repeats	HUVEC	blood vessel
8	chr7:57941200-57942400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:57941200-57951200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:57943400-57943800	Active TSS	Fetal Heart	heart
11	chr7:57944200-57944800	ZNF genes & repeats	Liver	Liver
12	chr7:57944800-57945000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:57945200-57946000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr7:57946800-57947000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr7:57946800-57947200	Active TSS	Stomach Mucosa	stomach
17	chr7:57947200-57957800	Weak transcription	Stomach Mucosa	stomach
18	chr7:57948400-57958200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:57949200-57950000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:57950600-57958200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr7:57951000-57951600	Active TSS	Right Atrium	heart
22	chr7:57951600-57957800	Weak transcription	Right Atrium	heart
23	chr7:57955200-57958400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr7:57955800-57957800	Weak transcription	NH-A	brain
25	chr7:57955800-57958000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:57955800-57958000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr7:57956400-57958200	ZNF genes & repeats	HepG2	liver
28	chr7:57956600-57956800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
29	chr7:57956600-57956800	ZNF genes & repeats	HUVEC	blood vessel
30	chr7:57956600-57958000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr7:57956600-57958400	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr7:57956800-57957800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:57956800-57957800	Weak transcription	HUVEC	blood vessel
34	chr7:57956800-57960000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr7:57957200-57958000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr7:57957200-57958000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
37	chr7:57957400-57958200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr7:57957600-57958000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr7:57957600-57958000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr7:57957600-57958000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:57957600-57958000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr7:57957600-57958200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:57957800-57958000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:57957800-57958000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:57957800-57958000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:57957800-57958000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:57957800-57958000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:57957800-57958000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:57957800-57958000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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