Variant report

Variant	nsv972095
Chromosome Location	chr11:67727109-67734041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr11:67732210-67732587	K562	blood:	n/a	n/a
2	EBF1	chr11:67732317-67732524	GM12878	blood:	n/a	n/a
3	ELF1	chr11:67732196-67732503	K562	blood:	n/a	n/a
4	EP300	chr11:67732338-67732481	GM12878	blood:	n/a	n/a
5	HCFC1	chr11:67732322-67732511	K562	blood:	n/a	n/a
6	IRF4	chr11:67732271-67732590	GM12878	blood:	n/a	n/a
7	MYC	chr11:67730124-67730169	K562	blood:	n/a	n/a
8	NFYB	chr11:67731398-67731609	Hela-S3	cervix:	n/a	n/a
9	NFYB	chr11:67731328-67731611	GM12878	blood:	n/a	n/a
10	NFYB	chr11:67731180-67731616	K562	blood:	n/a	n/a
11	POU2F2	chr11:67732262-67732538	GM12878	blood:	n/a	n/a
12	SIX5	chr11:67732235-67732583	K562	blood:	n/a	n/a
13	SIX5	chr11:67732318-67732560	A549	lung:	n/a	n/a
14	SIX5	chr11:67732288-67732607	K562	blood:	n/a	n/a
15	SIX5	chr11:67732189-67732680	GM12878	blood:	n/a	n/a
16	SP1	chr11:67732246-67732632	GM12878	blood:	n/a	n/a
17	SP1	chr11:67732264-67732602	HepG2	liver:	n/a	n/a
18	SP1	chr11:67732283-67732627	GM12878	blood:	n/a	n/a
19	TCF3	chr11:67732272-67732519	GM12878	blood:	n/a	n/a
20	USF1	chr11:67732243-67732658	A549	lung:	n/a	chr11:67732458-67732469
21	USF1	chr11:67732308-67732591	HepG2	liver:	n/a	chr11:67732458-67732469
22	USF1	chr11:67732310-67732597	GM12878	blood:	n/a	chr11:67732458-67732469
23	USF1	chr11:67732318-67732589	HepG2	liver:	n/a	chr11:67732458-67732469
24	USF1	chr11:67732224-67732733	A549	lung:	n/a	chr11:67732458-67732469
25	USF1	chr11:67732328-67732576	GM12878	blood:	n/a	chr11:67732458-67732469
26	USF1	chr11:67732228-67732609	K562	blood:	n/a	chr11:67732458-67732469
27	USF1	chr11:67732277-67732646	A549	lung:	n/a	chr11:67732458-67732469
28	USF1	chr11:67732202-67732651	A549	lung:	n/a	chr11:67732458-67732469
29	USF1	chr11:67732227-67732505	K562	blood:	n/a	chr11:67732458-67732469

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67733632-67733682	PrEC	prostate:	n/a
2	chr11:67733632-67733682	AoSMC	blood vessel:	n/a
3	chr11:67733632-67733682	HL-60	blood:	n/a
4	chr11:67733632-67733682	MCF-7	breast:	n/a
5	chr11:67733632-67733682	SK-N-SH_RA	brain:	n/a
6	chr11:67733632-67733682	Hela-S3	cervix:	n/a
7	chr11:67733632-67733682	U87	brain:	n/a
8	chr11:67733632-67733682	Hepatocyte	liver:	n/a
9	chr11:67733632-67733682	CMK	blood:	n/a
10	chr11:67733632-67733682	HRPEpiC	eye:	n/a
11	chr11:67733632-67733682	NHBE	bronchial:	n/a
12	chr11:67733632-67733682	NB4	blood:	n/a
13	chr11:67733632-67733682	AG10803	skin:	n/a
14	chr11:67733632-67733682	HCT-116	colon:	n/a
15	chr11:67733632-67733682	Caco-2	colon:	n/a
16	chr11:67733632-67733682	SK-N-SH	brain:	n/a
17	chr11:67733632-67733682	HEK293	kidney:	embryo
18	chr11:67733632-67733682	GM12891	blood:	n/a
19	chr11:67733632-67733682	HNPCEpiC	eye:	n/a
20	chr11:67733632-67733682	GM12878	blood:	n/a
21	chr11:67733632-67733682	ECC-1	luminal epithelium:	n/a
22	chr11:67733632-67733682	T-47D	breast:	n/a
23	chr11:67733632-67733682	RPTEC	kidney:	n/a
24	chr11:67733632-67733682	NH-A	brain:	n/a
25	chr11:67733632-67733682	SKMC	muscle:	n/a
26	chr11:67733632-67733682	HRE	kidney:	n/a
27	chr11:67733632-67733682	AG04450	lung:	fetal
28	chr11:67733632-67733682	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:67733632-67733682	NHDF-neo	bronchial:	n/a
30	chr11:67733632-67733682	A549	lung:	n/a
31	chr11:67733632-67733682	AG04449	skin:	fetal
32	chr11:67733632-67733682	HEEpiC	esophagus:	n/a
33	chr11:67733632-67733682	ovcar-3	ovarian:	n/a
34	chr11:67733632-67733682	H1-hESC	embryonic stem cell:	embryo
35	chr11:67733632-67733682	K562	blood:	n/a
36	chr11:67733632-67733682	PANC-1	pancreas:	n/a
37	chr11:67733632-67733682	IMR90	lung:	fetal
38	chr11:67733632-67733682	PFSK-1	brain:	n/a
39	chr11:67733632-67733682	HRCEpiC	kidney:	n/a
40	chr11:67733632-67733682	HMEC	breast:	n/a
41	chr11:67733632-67733682	BE2_C	brain:	n/a
42	chr11:67733632-67733682	SAEC	small airway:	n/a
43	chr11:67733632-67733682	GM19239	blood:	n/a
44	chr11:67733632-67733682	HepG2	liver:	n/a
45	chr11:67733632-67733682	AG09309	skin:	n/a
46	chr11:67733632-67733682	LNCaP	prostate:	n/a
47	chr11:67733632-67733682	SK-N-MC	brain:	n/a
48	chr11:67733632-67733682	Jurkat	blood:	n/a
49	chr11:67733632-67733682	NT2-D1	testis:	n/a
50	chr11:67733632-67733682	BJ	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000255230	TF binding region
ENSG00000255230	CpG island

Extended variants
information (count: 441 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575169309	chr11:67727110-67727111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551732573	chr11:67727130-67727131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147112067	chr11:67727131-67727132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185869501	chr11:67727134-67727135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113632543	chr11:67727137-67727138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9988797	chr11:67727141-67727142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9988798	chr11:67727143-67727144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528366165	chr11:67727163-67727164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546931952	chr11:67727179-67727180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369927413	chr11:67727189-67727190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532207885	chr11:67727190-67727191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112719902	chr11:67727197-67727198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9988839	chr11:67727232-67727233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113862077	chr11:67727252-67727253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9988840	chr11:67727259-67727260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73503274	chr11:67727279-67727280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536631804	chr11:67727284-67727285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78687197	chr11:67727322-67727323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150855659	chr11:67727342-67727343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28690617	chr11:67727353-67727354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555602139	chr11:67727354-67727355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147416952	chr11:67727372-67727373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138959550	chr11:67727383-67727384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200988827	chr11:67727401-67727402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190193436	chr11:67727409-67727410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192851163	chr11:67727411-67727412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566545041	chr11:67727438-67727439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554111078	chr11:67727447-67727448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76128792	chr11:67727448-67727449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373023987	chr11:67727449-67727450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558829278	chr11:67727458-67727459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182672869	chr11:67727465-67727466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571022090	chr11:67727477-67727478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538096725	chr11:67727478-67727479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79979493	chr11:67727504-67727505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557004321	chr11:67727505-67727506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77011333	chr11:67727518-67727519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76917142	chr11:67727568-67727569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80337028	chr11:67727587-67727588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546803683	chr11:67727600-67727601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575272252	chr11:67727623-67727624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375074311	chr11:67727625-67727626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76722446	chr11:67727637-67727638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186161864	chr11:67727643-67727644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554569360	chr11:67727644-67727645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572885256	chr11:67727650-67727651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540484858	chr11:67727705-67727706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190639652	chr11:67727709-67727710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76845295	chr11:67727711-67727712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77776669	chr11:67727716-67727717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67723200-67731800	Weak transcription	Right Atrium	heart
2	chr11:67723600-67730600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:67730400-67730600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:67730600-67731000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:67731000-67733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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