Variant report

Variant	esv1847881
Chromosome Location	chr7:56753757-56768313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 234 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10258585	chr7:56753757-56753758	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79281097	chr7:56753762-56753763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565205371	chr7:56753791-56753792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184717198	chr7:56753809-56753810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373102450	chr7:56753810-56753811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs532952689	chr7:56753854-56753855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs6965210	chr7:56753884-56753885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs6952232	chr7:56753975-56753976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562869282	chr7:56753976-56753977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs377544273	chr7:56754025-56754026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2671206	chr7:56754026-56754027	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs182254964	chr7:56754083-56754084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139911476	chr7:56754095-56754096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111378191	chr7:56754098-56754099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs55865066	chr7:56754140-56754141	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77451192	chr7:56754151-56754152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187466499	chr7:56754153-56754154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs150602672	chr7:56754204-56754205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10259142	chr7:56754223-56754224	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190273429	chr7:56754245-56754246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568030425	chr7:56754246-56754247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528993461	chr7:56754251-56754252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs180908243	chr7:56754252-56754253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547231864	chr7:56754259-56754260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565916143	chr7:56754265-56754266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184914773	chr7:56754291-56754292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558121072	chr7:56754319-56754320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570835222	chr7:56754328-56754329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538211882	chr7:56754397-56754398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs10274733	chr7:56754398-56754399	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190260071	chr7:56754413-56754414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs375921542	chr7:56754414-56754415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534198555	chr7:56754452-56754453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542312403	chr7:56754456-56754457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs554069051	chr7:56754472-56754473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572345264	chr7:56754501-56754502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs112526752	chr7:56754515-56754516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546071775	chr7:56754524-56754525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564412764	chr7:56754527-56754528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370824791	chr7:56754536-56754537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs55927573	chr7:56754540-56754541	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139798472	chr7:56754553-56754554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528979626	chr7:56754556-56754557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs368215960	chr7:56754561-56754562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs182509575	chr7:56754572-56754573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs149788930	chr7:56754576-56754577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs10274979	chr7:56754591-56754592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs569929476	chr7:56754606-56754607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111319938	chr7:56754620-56754621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144553239	chr7:56754625-56754626	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56752000-56756400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:56752400-56754200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:56752600-56754400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr7:56753000-56754400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr7:56753400-56755600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr7:56753600-56754200	ZNF genes & repeats	Liver	Liver
7	chr7:56755200-56755600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr7:56761000-56761400	ZNF genes & repeats	Dnd41	blood
9	chr7:56761400-56761600	Flanking Active TSS	Dnd41	blood
10	chr7:56761600-56762200	Enhancers	Dnd41	blood
11	chr7:56761600-56762400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr7:56762200-56763200	Weak transcription	Dnd41	blood
13	chr7:56763800-56765400	Enhancers	Dnd41	blood

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