Variant report

Variant	nsv1019506
Chromosome Location	chr7:56833052-56976080
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	ATF1	chr7:56950025-56950391	K562	blood:	n/a	n/a
2	ATF3	chr7:56950124-56950304	K562	blood:	n/a	n/a
3	BATF	chr7:56953282-56953438	GM12878	blood:	n/a	n/a
4	CTCF	chr7:56850437-56850549	GM13976	blood:	n/a	n/a
5	CTCF	chr7:56843109-56843158	GM20000	blood:	n/a	n/a
6	CTCF	chr7:56898492-56899071	K562	blood:	n/a	chr7:56898586-56898595 chr7:56898583-56898601 chr7:56898585-56898606 chr7:56898588-56898598 chr7:56898586-56898599
7	CTCF	chr7:56946873-56946943	Lung_OC	lung:	n/a	n/a
8	CTCF	chr7:56837137-56837220	GM13976	blood:	n/a	n/a
9	CTCF	chr7:56893980-56894130	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr7:56913865-56913962	GM13976	blood:	n/a	n/a
11	CTCF	chr7:56972052-56972128	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr7:56893780-56893803	GM10266	blood:	n/a	n/a
13	CTCF	chr7:56876360-56876548	K562	blood:	n/a	chr7:56876470-56876483
14	CTCF	chr7:56898699-56898941	K562	blood:	n/a	n/a
15	CTCF	chr7:56866720-56866870	NB4	blood:	n/a	n/a
16	CTCF	chr7:56878640-56878790	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr7:56876348-56876511	K562	blood:	n/a	chr7:56876470-56876483
18	CTCF	chr7:56900096-56900142	K562	blood:	n/a	chr7:56900128-56900141 chr7:56900128-56900137
19	CTCF	chr7:56898503-56898692	K562	blood:	n/a	chr7:56898586-56898595 chr7:56898583-56898601 chr7:56898585-56898606 chr7:56898588-56898598 chr7:56898586-56898599
20	CTCF	chr7:56894000-56894150	NB4	blood:	n/a	n/a
21	CTCF	chr7:56939307-56939355	GM10266	blood:	n/a	n/a
22	CTCF	chr7:56902484-56902514	GM10266	blood:	n/a	n/a
23	CTCF	chr7:56900089-56900146	HepG2	liver:	n/a	chr7:56900128-56900141 chr7:56900125-56900143 chr7:56900128-56900137
24	CTCF	chr7:56866803-56866956	K562	blood:	n/a	chr7:56866858-56866871 chr7:56866862-56866871 chr7:56866856-56866874
25	CTCF	chr7:56962885-56962931	LNCaP	prostate:	n/a	n/a
26	CTCF	chr7:56923519-56923573	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr7:56876322-56876589	K562	blood:	n/a	chr7:56876470-56876483
28	CTCF	chr7:56923459-56923617	Medullo	brain:	n/a	n/a
29	CTCF	chr7:56893980-56894130	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr7:56846545-56846615	GM10248	blood:	n/a	n/a
31	CTCF	chr7:56905293-56905369	LNCaP	prostate:	n/a	n/a
32	CTCF	chr7:56923505-56923510	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr7:56958949-56959016	GM13976	blood:	n/a	n/a
34	CTCF	chr7:56900108-56900146	MCF-7	breast:	n/a	chr7:56900128-56900141 chr7:56900125-56900143 chr7:56900128-56900137
35	CTCF	chr7:56956242-56956300	GM13976	blood:	n/a	n/a
36	CTCF	chr7:56900100-56900250	WERI-Rb-1	eye:	n/a	chr7:56900128-56900141 chr7:56900125-56900143 chr7:56900128-56900137
37	CTCF	chr7:56893960-56894110	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr7:56893880-56894030	HEK293	kidney:	n/a	n/a
39	EBF1	chr7:56953254-56953547	GM12878	blood:	n/a	n/a
40	EBF1	chr7:56953232-56953542	GM12878	blood:	n/a	n/a
41	FOSL2	chr7:56856672-56856894	HepG2	liver:	n/a	chr7:56856822-56856830 chr7:56856823-56856830
42	FOSL2	chr7:56873425-56873778	HepG2	liver:	n/a	n/a
43	FOXA1	chr7:56911626-56911907	HepG2	liver:	n/a	n/a
44	FOXA2	chr7:56911479-56912115	A549	lung:	n/a	n/a
45	FOXA2	chr7:56911626-56911945	A549	lung:	n/a	n/a
46	GABPA	chr7:56889300-56889427	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr7:56887254-56887638	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr7:56883573-56883774	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr7:56891149-56891262	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr7:56887318-56887489	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56942324-56942374	GM12878	blood:	n/a
2	chr7:56871573-56871623	NH-A	brain:	n/a
3	chr7:56957346-56957396	HEK293	kidney:	embryo
4	chr7:56892232-56892282	HCM	heart:	n/a
5	chr7:56942324-56942374	GM12878	blood:	n/a
6	chr7:56871573-56871623	NH-A	brain:	n/a
7	chr7:56957346-56957396	HEK293	kidney:	embryo
8	chr7:56892232-56892282	HCM	heart:	n/a
9	chr7:56894018-56894068	PrEC	prostate:	n/a
10	chr7:56895381-56895431	SKMC	muscle:	n/a
11	chr7:56938597-56938647	HCM	heart:	n/a
12	chr7:56950153-56950203	HCM	heart:	n/a
13	chr7:56953025-56953075	A549	lung:	n/a
14	chr7:56878783-56878833	HIPEpiC	eye:	n/a
15	chr7:56885997-56886047	NHDF-neo	bronchial:	n/a
16	chr7:56940923-56940973	IMR90	lung:	fetal
17	chr7:56878760-56878810	HCT-116	colon:	n/a
18	chr7:56891402-56891452	HCPEpiC	choroid plexus:	n/a
19	chr7:56892232-56892282	BJ	skin:	n/a
20	chr7:56879684-56879734	BJ	skin:	n/a
21	chr7:56879374-56879424	K562	blood:	n/a
22	chr7:56878291-56878341	HEK293	kidney:	embryo
23	chr7:56953025-56953075	HRPEpiC	eye:	n/a
24	chr7:56890693-56890743	IMR90	lung:	fetal
25	chr7:56854974-56855024	HCM	heart:	n/a
26	chr7:56880815-56880865	HNPCEpiC	eye:	n/a
27	chr7:56886296-56886346	AG04450	lung:	fetal
28	chr7:56957346-56957396	HNPCEpiC	eye:	n/a
29	chr7:56885997-56886047	A549	lung:	n/a
30	chr7:56879101-56879151	Caco-2	colon:	n/a
31	chr7:56891329-56891379	GM12891	blood:	n/a
32	chr7:56877538-56877588	RPTEC	kidney:	n/a
33	chr7:56879323-56879373	BJ	skin:	n/a
34	chr7:56891402-56891452	SKMC	muscle:	n/a
35	chr7:56886296-56886346	SK-N-SH	brain:	n/a
36	chr7:56950153-56950203	GM06990	blood:	n/a
37	chr7:56890693-56890743	MCF-7	breast:	n/a
38	chr7:56942355-56942405	HEK293	kidney:	embryo
39	chr7:56854974-56855024	PFSK-1	brain:	n/a
40	chr7:56871573-56871623	AG04449	skin:	fetal
41	chr7:56877538-56877588	SK-N-MC	brain:	n/a
42	chr7:56878291-56878341	ECC-1	luminal epithelium:	n/a
43	chr7:56879684-56879734	HCT-116	colon:	n/a
44	chr7:56877538-56877588	IMR90	lung:	fetal
45	chr7:56891746-56891796	T-47D	breast:	n/a
46	chr7:56855954-56856004	HepG2	liver:	n/a
47	chr7:56950153-56950203	GM12891	blood:	n/a
48	chr7:56945531-56945581	GM12878	blood:	n/a
49	chr7:56877828-56877878	CMK	blood:	n/a
50	chr7:56878760-56878810	ECC-1	luminal epithelium:	n/a

Variant related genes	Relation type
ENSG00000233437	TF binding region
ENSG00000233437	CpG island

Extended variants
information (count: 1140 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1140 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71050502	chr7:56849255-56849256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs144325394	chr7:56849292-56849293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs13226302	chr7:56849314-56849315	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187463385	chr7:56849330-56849331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575548807	chr7:56849339-56849340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4273808	chr7:56849361-56849362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542813596	chr7:56849367-56849368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565267162	chr7:56849379-56849380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528404997	chr7:56849394-56849395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541054222	chr7:56849396-56849397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs193039197	chr7:56849398-56849399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs377447568	chr7:56849401-56849402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370213508	chr7:56849406-56849407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551500461	chr7:56849427-56849428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554830184	chr7:56849441-56849442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs569826054	chr7:56849465-56849466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530963755	chr7:56849486-56849487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11982554	chr7:56849503-56849504	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567826936	chr7:56849506-56849507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368036518	chr7:56849511-56849512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs540923124	chr7:56849532-56849533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552669997	chr7:56849538-56849539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs541488554	chr7:56849548-56849549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185639974	chr7:56849561-56849562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10259541	chr7:56849564-56849565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538725653	chr7:56849568-56849569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557052218	chr7:56849594-56849595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530270110	chr7:56849600-56849601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144503862	chr7:56878206-56878207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541754174	chr7:56878210-56878211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531382898	chr7:56878216-56878217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559344622	chr7:56878228-56878229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532978748	chr7:56878243-56878244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574501615	chr7:56878256-56878257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545087726	chr7:56878258-56878259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191024157	chr7:56878259-56878260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs530595567	chr7:56878267-56878268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs367691333	chr7:56878291-56878292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372193598	chr7:56878292-56878293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs375214433	chr7:56878293-56878294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528330701	chr7:56878294-56878295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551079764	chr7:56878298-56878299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs6960237	chr7:56878321-56878322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs6942900	chr7:56878324-56878325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565711329	chr7:56878340-56878341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs28636986	chr7:56878351-56878352	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376963175	chr7:56878360-56878361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs183967697	chr7:56878364-56878365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs370089788	chr7:56878370-56878371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs28510101	chr7:56878413-56878414	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56849200-56849600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:56878200-56879800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:56878400-56879800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:56894000-56896600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:56945000-56945400	Enhancers	Dnd41	blood
6	chr7:56945400-56948400	Weak transcription	Dnd41	blood
7	chr7:56948400-56949000	Enhancers	Dnd41	blood
8	chr7:56949000-56956200	Weak transcription	Dnd41	blood
9	chr7:56956200-56958800	Enhancers	Dnd41	blood
10	chr7:56958800-56960200	Weak transcription	Dnd41	blood
11	chr7:56960200-56961800	Enhancers	Dnd41	blood
12	chr7:56961800-56962800	Weak transcription	Dnd41	blood
13	chr7:56962800-56963000	Enhancers	Dnd41	blood

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