Variant report

Variant	nsv966799
Chromosome Location	chr7:56643764-56660276
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	FOXA1	chr7:56652724-56653057	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:56646354-56646629	T-47D	breast:	n/a	n/a
3	FOXA1	chr7:56646397-56646580	T-47D	breast:	n/a	n/a
4	FOXA2	chr7:56652804-56653110	A549	lung:	n/a	n/a
5	FOXA2	chr7:56652677-56653293	A549	lung:	n/a	n/a
6	GATA3	chr7:56646202-56646667	MCF-7	breast:	n/a	chr7:56646586-56646595
7	GATA3	chr7:56646252-56646822	MCF-7	breast:	n/a	chr7:56646586-56646595
8	GATA3	chr7:56646288-56646660	T-47D	breast:	n/a	chr7:56646586-56646595
9	GATA3	chr7:56646343-56646611	T-47D	breast:	n/a	chr7:56646586-56646595
10	IRF1	chr7:56649888-56649954	K562	blood:	n/a	n/a
11	NR2F2	chr7:56646355-56646747	MCF-7	breast:	n/a	chr7:56646606-56646621
12	NR2F2	chr7:56646380-56646790	MCF-7	breast:	n/a	chr7:56646606-56646621
13	POLR2A	chr7:56645955-56645965	Gliobla	brain:	n/a	n/a
14	POLR2A	chr7:56652043-56652107	Gliobla	brain:	n/a	n/a
15	POLR2A	chr7:56652847-56653008	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:56652863-56652873	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:56645967-56646049	Gliobla	brain:	n/a	n/a
18	POLR2A	chr7:56652882-56652932	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:56652840-56652985	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:56653775-56653905	H1-hESC	embryonic stem cell:	n/a	n/a
21	RFX5	chr7:56647436-56647515	K562	blood:	n/a	n/a
22	STAT3	chr7:56660089-56660321	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUMF2-15	chr7:56646470-56646559	NONHSAT120770
2	lnc-SUMF2-15	chr7:56645541-56645660	NONHSAT120770

Variant related genes	Relation type
ENSG00000213067	TF binding region
ENSG00000234716	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13225892	chr7:56643792-56643793	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188433520	chr7:56643793-56643794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549969473	chr7:56643816-56643817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556164812	chr7:56643867-56643868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375081213	chr7:56643869-56643870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572158719	chr7:56643878-56643879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569575215	chr7:56643911-56643912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs568218141	chr7:56643912-56643913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs529198203	chr7:56643935-56643936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141733547	chr7:56643938-56643939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547417187	chr7:56643941-56643942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138961229	chr7:56644047-56644048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191373329	chr7:56644052-56644053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530481142	chr7:56644082-56644083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534213899	chr7:56644103-56644104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536123757	chr7:56644114-56644115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559080825	chr7:56644159-56644160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs150174531	chr7:56644190-56644191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371286263	chr7:56644192-56644193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538030249	chr7:56644336-56644337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546768631	chr7:56644379-56644380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs184281381	chr7:56644389-56644390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6968161	chr7:56645223-56645224	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557340628	chr7:56645296-56645297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs117335115	chr7:56645326-56645327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182034107	chr7:56645352-56645353	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs561660341	chr7:56645359-56645360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186192781	chr7:56645360-56645361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142400438	chr7:56645367-56645368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541245575	chr7:56645371-56645372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs189819204	chr7:56645390-56645391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs533271101	chr7:56645416-56645417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs114877944	chr7:56645444-56645445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs575183305	chr7:56645445-56645446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs180925363	chr7:56645473-56645474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374955995	chr7:56645491-56645492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs201640655	chr7:56645492-56645493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199860713	chr7:56645494-56645495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112062577	chr7:56645524-56645525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370913400	chr7:56645614-56645615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs564500156	chr7:56645649-56645650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs368560996	chr7:56646492-56646493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs1906629	chr7:56646495-56646496	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117744609	chr7:56646517-56646518	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs78030451	chr7:56646542-56646543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs147320097	chr7:56651251-56651252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6952677	chr7:56651297-56651298	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs190756476	chr7:56651302-56651303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559790816	chr7:56651334-56651335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183116062	chr7:56651398-56651399	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	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56641200-56644400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr7:56645200-56645600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:56651200-56652400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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