Variant report

Variant	esv3355286
Chromosome Location	chr7:58039110-58045108
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	chr4:94030168..94030688-chr7:58043283..58043804,2	MCF-7	breast:
2	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:

Extended variants
information (count: 637 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200709295	chr7:58039114-58039115	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs537860502	chr7:58039152-58039153	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373012402	chr7:58039180-58039181	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs201681029	chr7:58039192-58039193	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs144386283	chr7:58039199-58039200	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs141961908	chr7:58039208-58039209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112171432	chr7:58039221-58039222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138622538	chr7:58039222-58039223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113899155	chr7:58039225-58039226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140458656	chr7:58039251-58039252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567515266	chr7:58039252-58039253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149215928	chr7:58039264-58039265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528301030	chr7:58039280-58039281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs148001741	chr7:58039288-58039289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113730728	chr7:58039304-58039305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200067247	chr7:58039308-58039309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566178609	chr7:58039314-58039315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs9719696	chr7:58039320-58039321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs113484676	chr7:58039325-58039326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs558157829	chr7:58039337-58039338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs368955623	chr7:58039342-58039343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201989801	chr7:58039357-58039358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs374014710	chr7:58039369-58039370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545752213	chr7:58039382-58039383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs537387121	chr7:58039385-58039386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62459528	chr7:58039393-58039394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113598982	chr7:58039395-58039396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368530725	chr7:58039396-58039397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs372774919	chr7:58039397-58039398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62459529	chr7:58039407-58039408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78067280	chr7:58039408-58039409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs555637283	chr7:58039412-58039413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369949830	chr7:58039413-58039414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs541242041	chr7:58039414-58039415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147419893	chr7:58039417-58039418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553264529	chr7:58039436-58039437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs142836219	chr7:58039437-58039438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200303331	chr7:58039442-58039443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs559193435	chr7:58039447-58039448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140679303	chr7:58039449-58039450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148195606	chr7:58039453-58039454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140114987	chr7:58039455-58039456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111322340	chr7:58039463-58039464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs202021586	chr7:58039468-58039469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs373987302	chr7:58039471-58039472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150560076	chr7:58039472-58039473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529941617	chr7:58039473-58039474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143563066	chr7:58039475-58039476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs141021044	chr7:58039483-58039484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs138234246	chr7:58039489-58039490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:58026400-58042800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:58026400-58043000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:58032400-58043000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:58037000-58039400	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr7:58037800-58040000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr7:58038800-58039200	Active TSS	Aorta	Aorta
7	chr7:58038800-58040000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:58040400-58040600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr7:58040400-58040800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr7:58040600-58042400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:58041400-58043000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr7:58041800-58042600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr7:58041800-58042800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr7:58042000-58042200	ZNF genes & repeats	NH-A	brain
15	chr7:58042000-58042600	ZNF genes & repeats	HUVEC	blood vessel
16	chr7:58042200-58042600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:58042400-58042600	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr7:58042400-58042800	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr7:58043000-58044800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:58043000-58044800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:58043000-58044800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:58044800-58054200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr7:58044800-58054400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:58044800-58054400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr7:58045000-58054200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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