Variant report

Variant	nsv1046486
Chromosome Location	chr11:4697151-4741730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:611)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:4737623-4737722	K562	blood:	n/a	n/a
2	ATF1	chr11:4725319-4725444	K562	blood:	n/a	n/a
3	BATF	chr11:4720952-4721308	GM12878	blood:	n/a	chr11:4721121-4721132 chr11:4721122-4721132
4	BATF	chr11:4720966-4721312	GM12878	blood:	n/a	chr11:4721121-4721132 chr11:4721122-4721132
5	BHLHE40	chr11:4735655-4735881	K562	blood:	n/a	chr11:4735729-4735738 chr11:4735728-4735737 chr11:4735726-4735739 chr11:4735728-4735737 chr11:4735722-4735743
6	BHLHE40	chr11:4720909-4721365	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:4725424-4725706	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:4725569-4725710	K562	blood:	n/a	n/a
9	CEBPB	chr11:4727964-4728051	A549	lung:	n/a	n/a
10	CEBPB	chr11:4727716-4727917	K562	blood:	n/a	n/a
11	CEBPB	chr11:4718940-4719281	IMR90	lung:	n/a	chr11:4719120-4719133
12	CHD1	chr11:4736940-4736955	GM12878	blood:	n/a	n/a
13	CHD2	chr11:4725736-4726172	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:4719000-4719150	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr11:4718900-4719050	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr11:4706080-4706230	GM12874	blood:	n/a	n/a
17	CTCF	chr11:4718885-4719197	IMR90	lung:	n/a	n/a
18	CTCF	chr11:4719020-4719170	AG04449	skin:	n/a	n/a
19	CTCF	chr11:4726264-4726289	Lung_OC	lung:	n/a	n/a
20	CTCF	chr11:4704770-4704794	NHEK	skin:	n/a	n/a
21	CTCF	chr11:4719019-4719051	A549	lung:	n/a	n/a
22	CTCF	chr11:4718960-4719110	AG04449	skin:	n/a	n/a
23	CTCF	chr11:4718962-4719089	NHEK	skin:	n/a	n/a
24	CTCF	chr11:4718980-4719130	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr11:4718980-4719130	NHEK	skin:	n/a	n/a
26	CTCF	chr11:4718963-4719112	K562	blood:	n/a	n/a
27	CTCF	chr11:4718958-4719077	Gliobla	brain:	n/a	n/a
28	CTCF	chr11:4718920-4719070	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr11:4718957-4719090	ProgFib	skin:	n/a	n/a
30	CUX1	chr11:4716980-4717003	K562	blood:	n/a	n/a
31	E2F4	chr11:4737473-4737653	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr11:4720978-4721409	GM12878	blood:	n/a	n/a
33	EP300	chr11:4720927-4721293	GM12878	blood:	n/a	n/a
34	EP300	chr11:4720919-4721295	GM12878	blood:	n/a	n/a
35	EP300	chr11:4725576-4725757	GM12878	blood:	n/a	n/a
36	EP300	chr11:4720956-4721282	GM12878	blood:	n/a	n/a
37	FOS	chr11:4719069-4719206	MCF10A-Er-Src	breast:	n/a	n/a
38	GATA2	chr11:4715806-4716116	K562	blood:	n/a	n/a
39	GTF2F1	chr11:4725518-4725662	H1-hESC	embryonic stem cell:	n/a	n/a
40	IRF1	chr11:4728894-4728939	K562	blood:	n/a	n/a
41	IRF4	chr11:4720882-4721264	GM12878	blood:	n/a	n/a
42	IRF4	chr11:4720965-4721309	GM12878	blood:	n/a	n/a
43	JUN	chr11:4726238-4726381	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr11:4720916-4721307	GM12878	blood:	n/a	chr11:4721122-4721129 chr11:4721114-4721126 chr11:4721121-4721129
45	JUND	chr11:4725603-4726073	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr11:4720811-4721316	GM12878	blood:	n/a	chr11:4721122-4721129 chr11:4721114-4721126 chr11:4721121-4721129
47	JUND	chr11:4706917-4706935	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUND	chr11:4716895-4716964	H1-hESC	embryonic stem cell:	n/a	n/a
49	KAP1	chr11:4725239-4726128	HEK293	kidney:	n/a	n/a
50	KAP1	chr11:4725245-4726098	U2OS	brain:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4704749-4704799	Jurkat	blood:	n/a
2	chr11:4704749-4704799	Jurkat	blood:	n/a
3	chr11:4703553-4703603	GM06990	blood:	n/a
4	chr11:4726105-4726155	GM19239	blood:	n/a
5	chr11:4716867-4716917	MCF-7	breast:	n/a
6	chr11:4719138-4719188	AG09309	skin:	n/a
7	chr11:4704749-4704799	PANC-1	pancreas:	n/a
8	chr11:4726105-4726155	ovcar-3	ovarian:	n/a
9	chr11:4704749-4704799	BJ	skin:	n/a
10	chr11:4720347-4720397	K562	blood:	n/a
11	chr11:4704115-4704165	T-47D	breast:	n/a
12	chr11:4704800-4704850	NB4	blood:	n/a
13	chr11:4703553-4703603	PrEC	prostate:	n/a
14	chr11:4726105-4726155	NHBE	bronchial:	n/a
15	chr11:4703553-4703603	MCF10A-Er-Src	breast:	n/a
16	chr11:4703553-4703603	ovcar-3	ovarian:	n/a
17	chr11:4720347-4720397	GM06990	blood:	n/a
18	chr11:4704800-4704850	AG10803	skin:	n/a
19	chr11:4716867-4716917	PFSK-1	brain:	n/a
20	chr11:4726105-4726155	K562	blood:	n/a
21	chr11:4701824-4701874	BJ	skin:	n/a
22	chr11:4704115-4704165	GM19239	blood:	n/a
23	chr11:4726105-4726155	PrEC	prostate:	n/a
24	chr11:4704115-4704165	HMEC	breast:	n/a
25	chr11:4704749-4704799	H1-hESC	embryonic stem cell:	embryo
26	chr11:4704749-4704799	K562	blood:	n/a
27	chr11:4704115-4704165	SK-N-SH	brain:	n/a
28	chr11:4701824-4701874	HL-60	blood:	n/a
29	chr11:4716867-4716917	SK-N-SH	brain:	n/a
30	chr11:4704800-4704850	LNCaP	prostate:	n/a
31	chr11:4704749-4704799	Caco-2	colon:	n/a
32	chr11:4726105-4726155	HRE	kidney:	n/a
33	chr11:4716867-4716917	HMEC	breast:	n/a
34	chr11:4726105-4726155	GM12891	blood:	n/a
35	chr11:4718962-4719012	AoSMC	blood vessel:	n/a
36	chr11:4704800-4704850	K562	blood:	n/a
37	chr11:4719138-4719188	AoSMC	blood vessel:	n/a
38	chr11:4701824-4701874	NHDF-neo	bronchial:	n/a
39	chr11:4719138-4719188	SKMC	muscle:	n/a
40	chr11:4716867-4716917	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:4704115-4704165	AG09319	gingival:	n/a
42	chr11:4726105-4726155	HNPCEpiC	eye:	n/a
43	chr11:4701824-4701874	GM06990	blood:	n/a
44	chr11:4704749-4704799	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:4701824-4701874	HIPEpiC	eye:	n/a
46	chr11:4718962-4719012	PANC-1	pancreas:	n/a
47	chr11:4719138-4719188	HRPEpiC	eye:	n/a
48	chr11:4720347-4720397	HCPEpiC	choroid plexus:	n/a
49	chr11:4703553-4703603	BE2_C	brain:	n/a
50	chr11:4703553-4703603	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:4671764..4674063-chr11:4698121..4699721,2	K562	blood:
2	chr11:4716790..4717429-chr5:66479554..66480313,2	MCF-7	breast:
3	chr11:4706166..4708842-chr11:4710563..4713479,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMP26-1	chr11:4726157-4726275	NONHSAT017654

No data

Variant related genes	Relation type
OR51C1P	TF binding region
OR51F5P	TF binding region
OR51C4P	TF binding region
OR51E2	TF binding region
MMP26	TF binding region
OR51C1P	CpG island
OR51F5P	CpG island
OR51C4P	CpG island
OR51E2	CpG island
MMP26	CpG island
ENSG00000197674	chromatin interactions
ENSG00000180785	chromatin interactions

Extended variants
information (count: 1795 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1795 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544515881	chr11:4697165-4697166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553749324	chr11:4697179-4697180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565996761	chr11:4697192-4697193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536661243	chr11:4697241-4697242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554919018	chr11:4697251-4697252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73388874	chr11:4697262-4697263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111957610	chr11:4697328-4697329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74055221	chr11:4697350-4697351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565503958	chr11:4697356-4697357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371814016	chr11:4697376-4697377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115871937	chr11:4697400-4697401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181684555	chr11:4697429-4697430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577130310	chr11:4697443-4697444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559407978	chr11:4697474-4697475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529610792	chr11:4697476-4697477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548189809	chr11:4697477-4697478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563403491	chr11:4697486-4697487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530749360	chr11:4697487-4697488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551931266	chr11:4697489-4697490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545882483	chr11:4697498-4697499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570363341	chr11:4697514-4697515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185469331	chr11:4697523-4697524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200581739	chr11:4697529-4697530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386750045	chr11:4697530-4697531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386750046	chr11:4697542-4697543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10836456	chr11:4697544-4697545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536217129	chr11:4697549-4697550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113724481	chr11:4697564-4697565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576637438	chr11:4697565-4697566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374285359	chr11:4697576-4697577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537785082	chr11:4697584-4697585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561922006	chr11:4697590-4697591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375358107	chr11:4697599-4697600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2412393	chr11:4697606-4697607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182074531	chr11:4697609-4697610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11033290	chr11:4697621-4697622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551243944	chr11:4697631-4697632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199535550	chr11:4697633-4697634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541446284	chr11:4697642-4697643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7479063	chr11:4697662-4697663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558934713	chr11:4697666-4697667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373124984	chr11:4697673-4697674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527394261	chr11:4697678-4697679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187653437	chr11:4697679-4697680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372036669	chr11:4697680-4697681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564051585	chr11:4697682-4697683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142517933	chr11:4697695-4697696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546299335	chr11:4697697-4697698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370337125	chr11:4697699-4697700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566024289	chr11:4697733-4697734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4694600-4701000	Weak transcription	Fetal Kidney	kidney
2	chr11:4694600-4704400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:4700400-4701400	Enhancers	Colon Smooth Muscle	Colon
4	chr11:4701000-4701800	Enhancers	Fetal Kidney	kidney
5	chr11:4701400-4704400	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:4701600-4702000	Enhancers	Fetal Heart	heart
7	chr11:4703000-4703200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:4703000-4703600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:4703200-4703600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:4703200-4705400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:4703400-4705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:4703400-4706200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:4703600-4704000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:4703600-4704000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:4703600-4705400	Enhancers	NHEK	skin
16	chr11:4703800-4705000	Enhancers	NH-A	brain
17	chr11:4703800-4705200	Enhancers	HMEC	breast
18	chr11:4703800-4705400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:4703800-4705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:4704000-4704800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:4704200-4704800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:4704400-4704600	Enhancers	Rectal Smooth Muscle	rectum
23	chr11:4704400-4705200	Enhancers	Colon Smooth Muscle	Colon
24	chr11:4704600-4704800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:4712200-4712400	Enhancers	Gastric	stomach
26	chr11:4712400-4712800	Enhancers	Left Ventricle	heart
27	chr11:4712400-4713200	Enhancers	Fetal Heart	heart
28	chr11:4713200-4713600	Flanking Active TSS	Fetal Heart	heart
29	chr11:4713200-4714000	Enhancers	Colon Smooth Muscle	Colon
30	chr11:4713600-4714000	Enhancers	Fetal Heart	heart
31	chr11:4714000-4715200	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:4714000-4715200	Weak transcription	Fetal Heart	heart
33	chr11:4715000-4715200	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:4715200-4715400	Enhancers	Colon Smooth Muscle	Colon
35	chr11:4715200-4716000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:4715200-4717200	Enhancers	Fetal Heart	heart
37	chr11:4715400-4715600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:4715400-4715800	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:4715800-4716000	Enhancers	Colon Smooth Muscle	Colon
40	chr11:4716000-4716200	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr11:4716000-4716400	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:4716000-4717000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:4716200-4716400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:4716200-4716400	Enhancers	Ovary	ovary
45	chr11:4716200-4719000	Active TSS	Colon Smooth Muscle	Colon
46	chr11:4716400-4717400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:4717200-4717800	Active TSS	Ovary	ovary
48	chr11:4717400-4718600	Active TSS	Rectal Smooth Muscle	rectum
49	chr11:4717800-4718800	Weak transcription	Ovary	ovary
50	chr11:4718600-4718800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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