Variant report

Variant	nsv1020183
Chromosome Location	chr7:56785833-56976080
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	CEBPB	chr7:56792428-56792677	IMR90	lung:	n/a	chr7:56792518-56792529
5	CEBPB	chr7:56792375-56792690	HepG2	liver:	n/a	chr7:56792518-56792529
6	CTCF	chr7:56817941-56817989	Medullo	brain:	n/a	n/a
7	CTCF	chr7:56956242-56956300	GM13976	blood:	n/a	n/a
8	CTCF	chr7:56893980-56894130	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr7:56828962-56829049	GM20000	blood:	n/a	n/a
10	CTCF	chr7:56827634-56827696	ProgFib	skin:	n/a	n/a
11	CTCF	chr7:56900100-56900250	WERI-Rb-1	eye:	n/a	chr7:56900128-56900141 chr7:56900125-56900143 chr7:56900128-56900137
12	CTCF	chr7:56878640-56878790	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr7:56843109-56843158	GM20000	blood:	n/a	n/a
14	CTCF	chr7:56893980-56894130	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr7:56823065-56823128	LNCaP	prostate:	n/a	n/a
16	CTCF	chr7:56893880-56894030	HEK293	kidney:	n/a	n/a
17	CTCF	chr7:56902484-56902514	GM10266	blood:	n/a	n/a
18	CTCF	chr7:56905293-56905369	LNCaP	prostate:	n/a	n/a
19	CTCF	chr7:56962885-56962931	LNCaP	prostate:	n/a	n/a
20	CTCF	chr7:56900089-56900146	HepG2	liver:	n/a	chr7:56900128-56900141 chr7:56900125-56900143 chr7:56900128-56900137
21	CTCF	chr7:56866720-56866870	NB4	blood:	n/a	n/a
22	CTCF	chr7:56866803-56866956	K562	blood:	n/a	chr7:56866858-56866871 chr7:56866862-56866871 chr7:56866856-56866874
23	CTCF	chr7:56958949-56959016	GM13976	blood:	n/a	n/a
24	CTCF	chr7:56876348-56876511	K562	blood:	n/a	chr7:56876470-56876483
25	CTCF	chr7:56804108-56804142	GM13976	blood:	n/a	n/a
26	CTCF	chr7:56893780-56893803	GM10266	blood:	n/a	n/a
27	CTCF	chr7:56830749-56830802	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr7:56894000-56894150	NB4	blood:	n/a	n/a
29	CTCF	chr7:56837137-56837220	GM13976	blood:	n/a	n/a
30	CTCF	chr7:56923505-56923510	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr7:56898699-56898941	K562	blood:	n/a	n/a
32	CTCF	chr7:56876322-56876589	K562	blood:	n/a	chr7:56876470-56876483
33	CTCF	chr7:56893960-56894110	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr7:56850437-56850549	GM13976	blood:	n/a	n/a
35	CTCF	chr7:56923459-56923617	Medullo	brain:	n/a	n/a
36	CTCF	chr7:56939307-56939355	GM10266	blood:	n/a	n/a
37	CTCF	chr7:56846545-56846615	GM10248	blood:	n/a	n/a
38	CTCF	chr7:56800907-56800968	GM20000	blood:	n/a	n/a
39	CTCF	chr7:56876360-56876548	K562	blood:	n/a	chr7:56876470-56876483
40	CTCF	chr7:56898503-56898692	K562	blood:	n/a	chr7:56898586-56898595 chr7:56898583-56898601 chr7:56898585-56898606 chr7:56898588-56898598 chr7:56898586-56898599
41	CTCF	chr7:56808211-56808258	GM20000	blood:	n/a	n/a
42	CTCF	chr7:56946873-56946943	Lung_OC	lung:	n/a	n/a
43	CTCF	chr7:56827670-56827788	Lung_OC	lung:	n/a	n/a
44	CTCF	chr7:56806462-56806513	GM13976	blood:	n/a	n/a
45	CTCF	chr7:56900096-56900142	K562	blood:	n/a	chr7:56900128-56900141 chr7:56900128-56900137
46	CTCF	chr7:56809820-56809872	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr7:56972052-56972128	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr7:56913865-56913962	GM13976	blood:	n/a	n/a
49	CTCF	chr7:56923519-56923573	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr7:56900108-56900146	MCF-7	breast:	n/a	chr7:56900128-56900141 chr7:56900125-56900143 chr7:56900128-56900137

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:56879374-56879424	SK-N-SH_RA	brain:	n/a
2	chr7:56877538-56877588	HRE	kidney:	n/a
3	chr7:56942324-56942374	HMEC	breast:	n/a
4	chr7:56889000-56889050	GM12892	blood:	n/a
5	chr7:56891402-56891452	T-47D	breast:	n/a
6	chr7:56879374-56879424	SK-N-SH_RA	brain:	n/a
7	chr7:56877538-56877588	HRE	kidney:	n/a
8	chr7:56942324-56942374	HMEC	breast:	n/a
9	chr7:56889000-56889050	GM12892	blood:	n/a
10	chr7:56891402-56891452	T-47D	breast:	n/a
11	chr7:56855954-56856004	PFSK-1	brain:	n/a
12	chr7:56893504-56893554	PANC-1	pancreas:	n/a
13	chr7:56875093-56875143	HUVEC	blood vessel:	n/a
14	chr7:56892396-56892446	RPTEC	kidney:	n/a
15	chr7:56891746-56891796	HCF	heart:	n/a
16	chr7:56878760-56878810	HepG2	liver:	n/a
17	chr7:56942340-56942390	AG04449	skin:	fetal
18	chr7:56878783-56878833	HCF	heart:	n/a
19	chr7:56895381-56895431	SAEC	small airway:	n/a
20	chr7:56880815-56880865	AG09319	gingival:	n/a
21	chr7:56892396-56892446	SK-N-SH_RA	brain:	n/a
22	chr7:56879101-56879151	HL-60	blood:	n/a
23	chr7:56889000-56889050	Hepatocyte	liver:	n/a
24	chr7:56875093-56875143	A549	lung:	n/a
25	chr7:56938597-56938647	GM12878	blood:	n/a
26	chr7:56879323-56879373	HepG2	liver:	n/a
27	chr7:56879684-56879734	HEEpiC	esophagus:	n/a
28	chr7:56892232-56892282	SK-N-MC	brain:	n/a
29	chr7:56877828-56877878	AG04449	skin:	fetal
30	chr7:56940923-56940973	HIPEpiC	eye:	n/a
31	chr7:56871573-56871623	PrEC	prostate:	n/a
32	chr7:56942340-56942390	HRE	kidney:	n/a
33	chr7:56878783-56878833	NHBE	bronchial:	n/a
34	chr7:56879684-56879734	AG09319	gingival:	n/a
35	chr7:56879323-56879373	BE2_C	brain:	n/a
36	chr7:56957346-56957396	SK-N-SH	brain:	n/a
37	chr7:56882836-56882886	GM12878	blood:	n/a
38	chr7:56896000-56896050	PFSK-1	brain:	n/a
39	chr7:56940923-56940973	H1-hESC	embryonic stem cell:	embryo
40	chr7:56878291-56878341	MCF10A-Er-Src	breast:	n/a
41	chr7:56894857-56894907	H1-hESC	embryonic stem cell:	embryo
42	chr7:56875093-56875143	HNPCEpiC	eye:	n/a
43	chr7:56879684-56879734	Hela-S3	cervix:	n/a
44	chr7:56894857-56894907	HCF	heart:	n/a
45	chr7:56896000-56896050	HAEpiC	amniotic membrane:	n/a
46	chr7:56950307-56950357	NB4	blood:	n/a
47	chr7:56892232-56892282	PrEC	prostate:	n/a
48	chr7:56878291-56878341	PFSK-1	brain:	n/a
49	chr7:56895381-56895431	GM19239	blood:	n/a
50	chr7:56855495-56855545	AoSMC	blood vessel:	n/a

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

Extended variants
information (count: 1174 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556174983	chr7:56794449-56794450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140224775	chr7:56794450-56794451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371998812	chr7:56794472-56794473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571011149	chr7:56794476-56794477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541894023	chr7:56794582-56794583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560387072	chr7:56794604-56794605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs150323167	chr7:56794658-56794659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11773777	chr7:56794668-56794669	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113659154	chr7:56794684-56794685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111791284	chr7:56794701-56794702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549786020	chr7:56794721-56794722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149088831	chr7:56794746-56794747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73699552	chr7:56794757-56794758	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547420498	chr7:56794822-56794823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78837769	chr7:56794842-56794843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565645647	chr7:56794871-56794872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539608615	chr7:56794926-56794927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs184177763	chr7:56794936-56794937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569601088	chr7:56794965-56794966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs77528272	chr7:56794984-56794985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs554216960	chr7:56794994-56794995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555265723	chr7:56794999-56795000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568067528	chr7:56795050-56795051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535491626	chr7:56795072-56795073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs34856918	chr7:56795117-56795118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554231357	chr7:56795140-56795141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373802552	chr7:56795223-56795224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs572493396	chr7:56795286-56795287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs567927528	chr7:56795316-56795317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546355231	chr7:56795322-56795323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558101845	chr7:56795323-56795324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs187793933	chr7:56795326-56795327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576725044	chr7:56795359-56795360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62460194	chr7:56795374-56795375	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71050502	chr7:56849255-56849256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144325394	chr7:56849292-56849293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13226302	chr7:56849314-56849315	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187463385	chr7:56849330-56849331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575548807	chr7:56849339-56849340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs4273808	chr7:56849361-56849362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs542813596	chr7:56849367-56849368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565267162	chr7:56849379-56849380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs528404997	chr7:56849394-56849395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541054222	chr7:56849396-56849397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs193039197	chr7:56849398-56849399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs377447568	chr7:56849401-56849402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370213508	chr7:56849406-56849407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551500461	chr7:56849427-56849428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554830184	chr7:56849441-56849442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs569826054	chr7:56849465-56849466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56794400-56795400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:56794600-56795000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:56849200-56849600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:56878200-56879800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:56878400-56879800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr7:56894000-56896600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:56945000-56945400	Enhancers	Dnd41	blood
8	chr7:56945400-56948400	Weak transcription	Dnd41	blood
9	chr7:56948400-56949000	Enhancers	Dnd41	blood
10	chr7:56949000-56956200	Weak transcription	Dnd41	blood
11	chr7:56956200-56958800	Enhancers	Dnd41	blood
12	chr7:56958800-56960200	Weak transcription	Dnd41	blood
13	chr7:56960200-56961800	Enhancers	Dnd41	blood
14	chr7:56961800-56962800	Weak transcription	Dnd41	blood
15	chr7:56962800-56963000	Enhancers	Dnd41	blood

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