Variant report

Variant	esv3326659
Chromosome Location	chr7:56234558-56237131
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	chr7:56234975..56237932-chr7:56245748..56248480,2	MCF-7	breast:

Extended variants
information (count: 265 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552176500	chr7:56234632-56234633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565700023	chr7:56234646-56234647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187486713	chr7:56234663-56234664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373220512	chr7:56234686-56234687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376533398	chr7:56234687-56234688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370861934	chr7:56234689-56234690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375731751	chr7:56234690-56234691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs368354413	chr7:56234691-56234692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs72143823	chr7:56234692-56234693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572849272	chr7:56234708-56234709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs113930126	chr7:56234716-56234717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549517479	chr7:56234791-56234792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7783998	chr7:56234797-56234798	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192676176	chr7:56234802-56234803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs183209493	chr7:56234857-56234858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200917019	chr7:56234866-56234867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11979420	chr7:56234872-56234873	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377097810	chr7:56234886-56234887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571628317	chr7:56234891-56234892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538617894	chr7:56234929-56234930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs1625478	chr7:56234955-56234956	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs569573818	chr7:56234958-56234959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs146051647	chr7:56235017-56235018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555583083	chr7:56235037-56235038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573732152	chr7:56235099-56235100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs186820515	chr7:56235106-56235107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112681067	chr7:56235140-56235141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs577735717	chr7:56235170-56235171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs139747283	chr7:56235181-56235182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374711039	chr7:56235182-56235183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370115402	chr7:56235186-56235187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs13242190	chr7:56235193-56235194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563984380	chr7:56235198-56235199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs535667266	chr7:56235204-56235205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531274577	chr7:56235205-56235206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs13242200	chr7:56235215-56235216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13228238	chr7:56235216-56235217	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528641371	chr7:56235218-56235219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs377744994	chr7:56235221-56235222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547090721	chr7:56235222-56235223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201612904	chr7:56235223-56235224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200107316	chr7:56235224-56235225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201046619	chr7:56235230-56235231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs571357888	chr7:56235233-56235234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs74606480	chr7:56235234-56235235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs79029086	chr7:56235236-56235237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550601904	chr7:56235240-56235241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568907005	chr7:56235244-56235245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537379637	chr7:56235246-56235247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548992302	chr7:56235248-56235249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	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
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	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
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56234200-56237600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:56235600-56236600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:56235800-56236200	Active TSS	Fetal Lung	lung
4	chr7:56236200-56239800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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