Variant report

Variant	esv9871
Chromosome Location	chr7:57733558-57776214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 425 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533190264	chr7:57733564-57733565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73115659	chr7:57733565-57733566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115797663	chr7:57733572-57733573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181845458	chr7:57733602-57733603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370780384	chr7:57733617-57733618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186085769	chr7:57733632-57733633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35766222	chr7:57733641-57733642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558630685	chr7:57733659-57733660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112508870	chr7:57733665-57733666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs73115661	chr7:57733674-57733675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs367873498	chr7:57733702-57733703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs73360939	chr7:57733720-57733721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374224517	chr7:57733723-57733724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111331924	chr7:57733734-57733735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375027770	chr7:57733747-57733748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs568459713	chr7:57733751-57733752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116504522	chr7:57733764-57733765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535747858	chr7:57733775-57733776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554073891	chr7:57733799-57733800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34115660	chr7:57733828-57733829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190990113	chr7:57733836-57733837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62451403	chr7:57733843-57733844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557428806	chr7:57733861-57733862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62451404	chr7:57733867-57733868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs76052465	chr7:57733897-57733898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62451405	chr7:57733913-57733914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs576009185	chr7:57733987-57733988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375322744	chr7:57733988-57733989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62451406	chr7:57733999-57734000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201832723	chr7:57734011-57734012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543514571	chr7:57734026-57734027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs376560914	chr7:57734031-57734032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77879232	chr7:57734044-57734045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200590438	chr7:57734047-57734048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369070589	chr7:57734052-57734053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs76457876	chr7:57734063-57734064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541310072	chr7:57734096-57734097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559718981	chr7:57734100-57734101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73360940	chr7:57734107-57734108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78838999	chr7:57734131-57734132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs201890815	chr7:57734140-57734141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143584141	chr7:57734142-57734143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142249798	chr7:57734152-57734153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142207641	chr7:57734155-57734156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76799220	chr7:57734156-57734157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs80243458	chr7:57734162-57734163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375432250	chr7:57734168-57734169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368671264	chr7:57734172-57734173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147856793	chr7:57734199-57734200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76492363	chr7:57734211-57734212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57733000-57735400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:57734800-57735200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr7:57739000-57739400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:57739400-57739600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:57739600-57741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:57741800-57742000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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