Variant report

Variant	nsv972096
Chromosome Location	chr11:71339885-71346889
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	CEBPB	chr11:71344592-71344855	HepG2	liver:	n/a	chr11:71344746-71344757
2	CEBPB	chr11:71344578-71344792	K562	blood:	n/a	chr11:71344746-71344757
3	CEBPB	chr11:71344744-71344773	Hela-S3	cervix:	n/a	chr11:71344746-71344757
4	CEBPB	chr11:71344666-71344841	IMR90	lung:	n/a	chr11:71344746-71344757
5	CTCF	chr11:71342687-71342712	Lung_OC	lung:	n/a	n/a
6	CTCF	chr11:71345775-71345787	GM10266	blood:	n/a	n/a
7	ELF1	chr11:71341153-71341407	K562	blood:	n/a	chr11:71341309-71341322
8	ELF1	chr11:71341199-71341355	HepG2	liver:	n/a	chr11:71341309-71341322
9	ELF1	chr11:71341156-71341367	GM12878	blood:	n/a	chr11:71341309-71341322
10	ELF1	chr11:71341176-71341372	K562	blood:	n/a	chr11:71341309-71341322
11	GABPA	chr11:71340208-71340381	HepG2	liver:	n/a	n/a
12	HCFC1	chr11:71341103-71341482	K562	blood:	n/a	n/a
13	MAX	chr11:71341285-71341312	NB4	blood:	n/a	n/a
14	MYC	chr11:71342937-71342973	MCF-7	breast:	n/a	n/a
15	NFYB	chr11:71342033-71342409	K562	blood:	n/a	n/a
16	NFYB	chr11:71342200-71342400	GM12878	blood:	n/a	n/a
17	SIX5	chr11:71341182-71341358	GM12878	blood:	n/a	n/a
18	SIX5	chr11:71341127-71341373	A549	lung:	n/a	n/a
19	SIX5	chr11:71341105-71341474	K562	blood:	n/a	n/a
20	SIX5	chr11:71341159-71341387	K562	blood:	n/a	n/a
21	SIX5	chr11:71341160-71341465	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIX5	chr11:71341087-71341393	K562	blood:	n/a	n/a
23	SIX5	chr11:71341112-71341452	GM12878	blood:	n/a	n/a
24	USF1	chr11:71341161-71341373	SK-N-SH_RA	brain:	n/a	chr11:71341253-71341264
25	USF1	chr11:71341090-71341400	A549	lung:	n/a	chr11:71341253-71341264
26	USF1	chr11:71341167-71341385	HepG2	liver:	n/a	chr11:71341253-71341264
27	USF1	chr11:71340295-71340426	HepG2	liver:	n/a	n/a
28	USF1	chr11:71341144-71341370	H1-hESC	embryonic stem cell:	n/a	chr11:71341253-71341264
29	USF1	chr11:71341103-71341369	K562	blood:	n/a	chr11:71341253-71341264
30	USF1	chr11:71341043-71341486	A549	lung:	n/a	chr11:71341253-71341264
31	USF1	chr11:71341171-71341342	SK-N-SH_RA	brain:	n/a	chr11:71341253-71341264
32	USF1	chr11:71341152-71341372	A549	lung:	n/a	chr11:71341253-71341264
33	USF1	chr11:71341102-71341402	HepG2	liver:	n/a	chr11:71341253-71341264
34	USF1	chr11:71341112-71341353	GM12878	blood:	n/a	chr11:71341253-71341264
35	USF1	chr11:71341102-71341367	GM12878	blood:	n/a	chr11:71341253-71341264
36	USF1	chr11:71340996-71341441	K562	blood:	n/a	chr11:71341253-71341264
37	USF1	chr11:71341018-71341374	A549	lung:	n/a	chr11:71341253-71341264
38	USF1	chr11:71341103-71341478	A549	lung:	n/a	chr11:71341253-71341264
39	USF1	chr11:71341014-71341456	H1-hESC	embryonic stem cell:	n/a	chr11:71341253-71341264
40	USF1	chr11:71341016-71341397	HCT-116	colon:	n/a	chr11:71341253-71341264
41	USF2	chr11:71341164-71341361	GM12878	blood:	n/a	chr11:71341253-71341264
42	USF2	chr11:71341162-71341338	Hela-S3	cervix:	n/a	chr11:71341253-71341264
43	USF2	chr11:71341127-71341304	H1-hESC	embryonic stem cell:	n/a	chr11:71341253-71341264
44	ZNF143	chr11:71341103-71341395	K562	blood:	n/a	n/a
45	ZNF143	chr11:71341275-71341309	Hela-S3	cervix:	n/a	n/a
46	ZNF143	chr11:71341113-71341398	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZNF143	chr11:71341111-71341400	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71340288-71340338	Hela-S3	cervix:	n/a
2	chr11:71340288-71340338	PrEC	prostate:	n/a
3	chr11:71340352-71340402	SK-N-SH	brain:	n/a
4	chr11:71346528-71346578	U87	brain:	n/a
5	chr11:71340182-71340232	RPTEC	kidney:	n/a
6	chr11:71346528-71346578	NHBE	bronchial:	n/a
7	chr11:71346528-71346578	MCF10A-Er-Src	breast:	n/a
8	chr11:71340288-71340338	K562	blood:	n/a
9	chr11:71340288-71340338	NHDF-neo	bronchial:	n/a
10	chr11:71340182-71340232	SK-N-MC	brain:	n/a
11	chr11:71346528-71346578	NB4	blood:	n/a
12	chr11:71346528-71346578	HEEpiC	esophagus:	n/a
13	chr11:71340352-71340402	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:71340182-71340232	ovcar-3	ovarian:	n/a
15	chr11:71340352-71340402	MCF10A-Er-Src	breast:	n/a
16	chr11:71340352-71340402	ovcar-3	ovarian:	n/a
17	chr11:71346528-71346578	ProgFib	skin:	n/a
18	chr11:71340288-71340338	HCPEpiC	choroid plexus:	n/a
19	chr11:71340182-71340232	SKMC	muscle:	n/a
20	chr11:71340182-71340232	MCF10A-Er-Src	breast:	n/a
21	chr11:71340288-71340338	HEK293	kidney:	embryo
22	chr11:71340288-71340338	BE2_C	brain:	n/a
23	chr11:71346528-71346578	HMEC	breast:	n/a
24	chr11:71346528-71346578	HEK293	kidney:	embryo
25	chr11:71340352-71340402	GM12878	blood:	n/a
26	chr11:71340288-71340338	AG04450	lung:	fetal
27	chr11:71340182-71340232	HCM	heart:	n/a
28	chr11:71340352-71340402	HRPEpiC	eye:	n/a
29	chr11:71340288-71340338	HEEpiC	esophagus:	n/a
30	chr11:71346528-71346578	GM12892	blood:	n/a
31	chr11:71340288-71340338	HCT-116	colon:	n/a
32	chr11:71340182-71340232	HRCEpiC	kidney:	n/a
33	chr11:71340352-71340402	NHBE	bronchial:	n/a
34	chr11:71346528-71346578	BE2_C	brain:	n/a
35	chr11:71340182-71340232	BJ	skin:	n/a
36	chr11:71346528-71346578	SK-N-SH_RA	brain:	n/a
37	chr11:71340352-71340402	HCPEpiC	choroid plexus:	n/a
38	chr11:71340182-71340232	AG04450	lung:	fetal
39	chr11:71340288-71340338	HRCEpiC	kidney:	n/a
40	chr11:71346528-71346578	NH-A	brain:	n/a
41	chr11:71340352-71340402	K562	blood:	n/a
42	chr11:71346528-71346578	K562	blood:	n/a
43	chr11:71340182-71340232	LNCaP	prostate:	n/a
44	chr11:71340182-71340232	GM12891	blood:	n/a
45	chr11:71346528-71346578	NHDF-neo	bronchial:	n/a
46	chr11:71340352-71340402	PrEC	prostate:	n/a
47	chr11:71340182-71340232	MCF-7	breast:	n/a
48	chr11:71340288-71340338	LNCaP	prostate:	n/a
49	chr11:71340288-71340338	AG10803	skin:	n/a
50	chr11:71340182-71340232	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000255415	TF binding region
ENSG00000255415	CpG island

Extended variants
information (count: 383 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184112937	chr11:71339885-71339886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548656823	chr11:71339932-71339933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201597457	chr11:71339958-71339959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61890063	chr11:71340011-71340012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187018529	chr11:71340020-71340021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191041707	chr11:71340048-71340049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558702282	chr11:71340058-71340059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576993389	chr11:71340071-71340072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9666675	chr11:71340126-71340127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182759999	chr11:71340144-71340145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556225414	chr11:71340161-71340162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574053248	chr11:71340171-71340172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541427013	chr11:71340176-71340177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559784847	chr11:71340180-71340181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571821128	chr11:71340183-71340184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115776757	chr11:71340199-71340200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9919619	chr11:71340235-71340236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532639150	chr11:71340249-71340250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551219015	chr11:71340250-71340251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563046654	chr11:71340262-71340263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9667234	chr11:71340266-71340267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs367581594	chr11:71340268-71340269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186767005	chr11:71340283-71340284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566907978	chr11:71340284-71340285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191900420	chr11:71340289-71340290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182601352	chr11:71340299-71340300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150422293	chr11:71340300-71340301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112403659	chr11:71340331-71340332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187598439	chr11:71340335-71340336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192830364	chr11:71340354-71340355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574412254	chr11:71340364-71340365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535046205	chr11:71340377-71340378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553333999	chr11:71340384-71340385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571735215	chr11:71340398-71340399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113952410	chr11:71340409-71340410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545875841	chr11:71340448-71340449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557578372	chr11:71340449-71340450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577323750	chr11:71340465-71340466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550454008	chr11:71340512-71340513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199552738	chr11:71340553-71340554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577697220	chr11:71340565-71340566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563142302	chr11:71340578-71340579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28653340	chr11:71340620-71340621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185717063	chr11:71340621-71340622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571822284	chr11:71340643-71340644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35488635	chr11:71340678-71340679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371661252	chr11:71340684-71340685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190187444	chr11:71340689-71340690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553978149	chr11:71340697-71340698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552598509	chr11:71340742-71340743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71335200-71350400	Weak transcription	Right Atrium	heart
2	chr11:71344200-71350600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:71346800-71347000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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