Variant report

Variant	nsv970412
Chromosome Location	chr7:56607672-56620805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:56619488-56619583	Spleen_OC	spleen:	n/a	n/a
2	GATA3	chr7:56614463-56614568	SH-SY5Y	brain:	n/a	n/a
3	MAFK	chr7:56612896-56613058	HepG2	liver:	n/a	chr7:56612977-56612992
4	MAFK	chr7:56615591-56615677	HepG2	liver:	n/a	n/a
5	MAFK	chr7:56615641-56615780	HepG2	liver:	n/a	n/a
6	MAFK	chr7:56612877-56613093	HepG2	liver:	n/a	chr7:56612977-56612992
7	MAZ	chr7:56612577-56612591	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:56608804-56608858	Gliobla	brain:	n/a	n/a
9	POLR2A	chr7:56608866-56608940	Gliobla	brain:	n/a	n/a
10	POLR2A	chr7:56613976-56614147	GM12878	blood:	n/a	n/a
11	RFX5	chr7:56614618-56614694	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56587375..56589819-chr7:56607783..56609780,2	K562	blood:

Variant related genes	Relation type
ENSG00000233288	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533481723	chr7:56607686-56607687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563493750	chr7:56607770-56607771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550928747	chr7:56607792-56607793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569332350	chr7:56607797-56607798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs536704208	chr7:56607816-56607817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79395290	chr7:56607856-56607857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs567291405	chr7:56607859-56607860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534816114	chr7:56607896-56607897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552917541	chr7:56607910-56607911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147954973	chr7:56608184-56608185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs34938725	chr7:56608227-56608228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538947629	chr7:56608248-56608249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558155908	chr7:56608287-56608288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs549613148	chr7:56608304-56608305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576508002	chr7:56608330-56608331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191492442	chr7:56608364-56608365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs7785531	chr7:56608381-56608382	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs117500986	chr7:56608424-56608425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140346865	chr7:56608498-56608499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs552546967	chr7:56608515-56608516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs62461614	chr7:56608516-56608517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377674587	chr7:56608527-56608528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557038310	chr7:56608612-56608613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs3749502	chr7:56608628-56608629	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368227249	chr7:56608649-56608650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142051033	chr7:56608759-56608760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534970683	chr7:56608814-56608815	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548302734	chr7:56608861-56608862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs3828495	chr7:56608904-56608905	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537171705	chr7:56608917-56608918	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs151179067	chr7:56608925-56608926	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs10216214	chr7:56608978-56608979	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544634918	chr7:56609001-56609002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546736816	chr7:56609005-56609006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571371719	chr7:56609007-56609008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538889077	chr7:56609052-56609053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150310332	chr7:56609116-56609117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182815889	chr7:56609125-56609126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs537437739	chr7:56609135-56609136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369898887	chr7:56609216-56609217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555513210	chr7:56609219-56609220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs187530047	chr7:56609221-56609222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs541189138	chr7:56609226-56609227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553486368	chr7:56609247-56609248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs10216226	chr7:56609272-56609273	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545240513	chr7:56609283-56609284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12719003	chr7:56609305-56609306	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75337992	chr7:56609352-56609353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs369195982	chr7:56609369-56609370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192148541	chr7:56609398-56609399	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56604800-56609600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:56605000-56611400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56605200-56612600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:56605600-56608000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:56605600-56610600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:56606200-56609200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:56607200-56610600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr7:56609000-56609200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:56611200-56611400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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