Variant report

Variant	esv3448647
Chromosome Location	chr7:57284471-57285235
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	chr20:47131270..47131959-chr7:57284082..57284602,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-10	chr7:57284552-57284791	FPKM1_group_29782_transcript_2
2	lnc-ZNF716-10	chr7:57284552-57284791	NONHSAT120825

Extended variants
information (count: 71 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185763752	chr7:57284474-57284475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570548275	chr7:57284479-57284480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs375869146	chr7:57284504-57284505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11978070	chr7:57284512-57284513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557516113	chr7:57284560-57284561	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs374771272	chr7:57284581-57284582	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78006012	chr7:57284602-57284603	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs79979215	chr7:57284606-57284607	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs575791281	chr7:57284612-57284613	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs536312812	chr7:57284658-57284659	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs73355056	chr7:57284665-57284666	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555150393	chr7:57284666-57284667	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs72499875	chr7:57284676-57284677	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs531571405	chr7:57284713-57284714	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs76692980	chr7:57284715-57284716	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs551735679	chr7:57284716-57284717	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs150936809	chr7:57284741-57284742	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs60768176	chr7:57284751-57284752	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573318753	chr7:57284758-57284759	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs75404970	chr7:57284766-57284767	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs75499333	chr7:57284771-57284772	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs540965826	chr7:57284785-57284786	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs565237397	chr7:57284803-57284804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13223016	chr7:57284805-57284806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs13223019	chr7:57284806-57284807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs189032372	chr7:57284816-57284817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs60065645	chr7:57284833-57284834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs6961030	chr7:57284841-57284842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs180939326	chr7:57284842-57284843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs6975976	chr7:57284847-57284848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78304410	chr7:57284848-57284849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111656221	chr7:57284852-57284853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75551473	chr7:57284855-57284856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs60418984	chr7:57284865-57284866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs60021510	chr7:57284868-57284869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201404986	chr7:57284869-57284870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13234258	chr7:57284876-57284877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs13234259	chr7:57284877-57284878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs186158711	chr7:57284881-57284882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs13226472	chr7:57284891-57284892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4870636	chr7:57284897-57284898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4870715	chr7:57284903-57284904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs4870716	chr7:57284906-57284907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs4870717	chr7:57284912-57284913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs13244851	chr7:57284917-57284918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4870637	chr7:57284921-57284922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs4870718	chr7:57284923-57284924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs13234285	chr7:57284928-57284929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188659414	chr7:57284933-57284934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4870719	chr7:57284937-57284938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Williams Syndrome	20824207	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	chr7:57283400-57285600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:57284200-57284600	ZNF genes & repeats	HepG2	liver
3	chr7:57284600-57286200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:57284800-57285200	ZNF genes & repeats	HepG2	liver

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