Variant report

Variant	esv3393794
Chromosome Location	chr7:56434458-56438406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 473 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549719562	chr7:56434463-56434464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59474264	chr7:56434474-56434475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190408075	chr7:56434484-56434485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183399316	chr7:56434492-56434493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571760527	chr7:56434497-56434498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538738523	chr7:56434498-56434499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557361893	chr7:56434504-56434505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140194704	chr7:56434505-56434506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536220810	chr7:56434509-56434510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555249519	chr7:56434517-56434518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573587064	chr7:56434522-56434523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541265107	chr7:56434541-56434542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58587661	chr7:56434542-56434543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577700476	chr7:56434554-56434555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544791176	chr7:56434555-56434556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188736692	chr7:56434558-56434559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530522774	chr7:56434564-56434565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542604473	chr7:56434582-56434583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561608116	chr7:56434585-56434586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528793823	chr7:56434587-56434588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547202541	chr7:56434592-56434593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565322947	chr7:56434598-56434599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532709064	chr7:56434622-56434623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550820158	chr7:56434629-56434630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568967681	chr7:56434631-56434632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536285027	chr7:56434636-56434637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4628220	chr7:56434638-56434639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567248795	chr7:56434649-56434650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534596636	chr7:56434670-56434671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553196448	chr7:56434690-56434691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577783099	chr7:56434701-56434702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538779300	chr7:56434711-56434712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78815416	chr7:56434718-56434719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577487215	chr7:56434724-56434725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76607341	chr7:56434725-56434726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192807979	chr7:56434729-56434730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77096850	chr7:56434734-56434735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560846565	chr7:56434739-56434740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80103586	chr7:56434742-56434743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540587804	chr7:56434745-56434746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74671875	chr7:56434752-56434753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532603395	chr7:56434757-56434758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76077938	chr7:56434758-56434759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76137823	chr7:56434761-56434762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562686132	chr7:56434762-56434763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28668797	chr7:56434776-56434777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs541021166	chr7:56434780-56434781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566542909	chr7:56434783-56434784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534168482	chr7:56434784-56434785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117152556	chr7:56434793-56434794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56434200-56439400	Weak transcription	Right Atrium	heart
2	chr7:56434800-56436400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56436200-56436800	ZNF genes & repeats	Colonic Mucosa	Colon

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