Variant report

Variant	nsv896934
Chromosome Location	chr11:5427118-5450387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5432429-5432471	Medullo	brain:	n/a	n/a
2	CTCF	chr11:5443640-5443790	GM12871	blood:	n/a	n/a
3	CTCF	chr11:5442187-5442520	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:5442420-5442570	A549	lung:	n/a	n/a
5	CTCF	chr11:5442280-5442430	HepG2	liver:	n/a	n/a
6	CTCF	chr11:5442341-5442440	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:5442280-5442430	HCT-116	colon:	n/a	n/a
8	CTCF	chr11:5442260-5442410	Caco-2	colon:	n/a	n/a
9	CTCF	chr11:5432422-5432428	Medullo	brain:	n/a	n/a
10	CTCF	chr11:5442220-5442370	GM12864	blood:	n/a	n/a
11	CTCF	chr11:5433564-5433654	Lung_OC	lung:	n/a	n/a
12	CTCF	chr11:5442340-5442490	WERI-Rb-1	eye:	n/a	n/a
13	CTCF	chr11:5442280-5442430	Caco-2	colon:	n/a	n/a
14	E2F4	chr11:5448041-5448200	MCF10A-Er-Src	breast:	n/a	n/a
15	FAM48A	chr11:5427554-5427740	GM12878	blood:	n/a	n/a
16	FOS	chr11:5444189-5444550	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:5444070-5444514	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:5444199-5444503	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:5444148-5444500	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA2	chr11:5433811-5434274	A549	lung:	n/a	n/a
21	FOXA2	chr11:5433794-5434165	A549	lung:	n/a	n/a
22	JUN	chr11:5444107-5444538	HepG2	liver:	n/a	n/a
23	JUND	chr11:5444041-5444553	HepG2	liver:	n/a	chr11:5444212-5444223
24	JUND	chr11:5444100-5444331	H1-hESC	embryonic stem cell:	n/a	chr11:5444212-5444223
25	JUND	chr11:5443919-5444616	SK-N-SH	brain:	n/a	chr11:5444212-5444223
26	NFYB	chr11:5442748-5442796	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:5446390-5446711	K562	blood:	n/a	n/a
28	POLR2A	chr11:5445343-5445756	K562	blood:	n/a	n/a
29	POLR2A	chr11:5443355-5443658	K562	blood:	n/a	n/a
30	POLR2A	chr11:5433855-5434007	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:5445866-5445889	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:5448352-5448765	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr11:5443516-5443598	A549	lung:	n/a	n/a
34	POLR2A	chr11:5427051-5427412	K562	blood:	n/a	n/a
35	POLR2A	chr11:5430469-5430758	K562	blood:	n/a	n/a
36	POLR2A	chr11:5437511-5441947	K562	blood:	n/a	n/a
37	POLR2A	chr11:5444118-5445133	K562	blood:	n/a	n/a
38	POLR2A	chr11:5442258-5442603	HCT-116	colon:	n/a	n/a
39	POLR2A	chr11:5445374-5445416	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:5446787-5446955	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:5436947-5437280	K562	blood:	n/a	n/a
42	POLR2A	chr11:5444936-5444967	K562	blood:	n/a	n/a
43	POLR2A	chr11:5443209-5444344	K562	blood:	n/a	n/a
44	POLR2A	chr11:5444647-5444944	HCT-116	colon:	n/a	n/a
45	POLR2A	chr11:5443301-5444213	HCT-116	colon:	n/a	n/a
46	POLR2A	chr11:5444787-5444919	K562	blood:	n/a	n/a
47	POLR2A	chr11:5450300-5450652	HCT-116	colon:	n/a	n/a
48	POLR2A	chr11:5435584-5436498	K562	blood:	n/a	n/a
49	POLR2A	chr11:5443406-5443668	K562	blood:	n/a	n/a
50	POLR2A	chr11:5449587-5450561	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5442511-5442561	SKMC	muscle:	n/a
2	chr11:5444223-5444273	BE2_C	brain:	n/a
3	chr11:5442511-5442561	BE2_C	brain:	n/a
4	chr11:5433817-5433867	NH-A	brain:	n/a
5	chr11:5442443-5442493	HEEpiC	esophagus:	n/a
6	chr11:5442511-5442561	ECC-1	luminal epithelium:	n/a
7	chr11:5442511-5442561	SK-N-SH_RA	brain:	n/a
8	chr11:5442443-5442493	PrEC	prostate:	n/a
9	chr11:5442443-5442493	ovcar-3	ovarian:	n/a
10	chr11:5433817-5433867	RPTEC	kidney:	n/a
11	chr11:5442511-5442561	GM06990	blood:	n/a
12	chr11:5444223-5444273	NHBE	bronchial:	n/a
13	chr11:5444223-5444273	PANC-1	pancreas:	n/a
14	chr11:5444223-5444273	NHDF-neo	bronchial:	n/a
15	chr11:5442434-5442484	HL-60	blood:	n/a
16	chr11:5442443-5442493	SK-N-SH	brain:	n/a
17	chr11:5442511-5442561	A549	lung:	n/a
18	chr11:5442443-5442493	Caco-2	colon:	n/a
19	chr11:5433817-5433867	IMR90	lung:	fetal
20	chr11:5444223-5444273	IMR90	lung:	fetal
21	chr11:5444223-5444273	HRPEpiC	eye:	n/a
22	chr11:5433817-5433867	GM06990	blood:	n/a
23	chr11:5444223-5444273	SAEC	small airway:	n/a
24	chr11:5442511-5442561	HAEpiC	amniotic membrane:	n/a
25	chr11:5433817-5433867	HAEpiC	amniotic membrane:	n/a
26	chr11:5442511-5442561	HUVEC	blood vessel:	n/a
27	chr11:5433817-5433867	HRPEpiC	eye:	n/a
28	chr11:5442511-5442561	GM12892	blood:	n/a
29	chr11:5442511-5442561	SAEC	small airway:	n/a
30	chr11:5442434-5442484	NB4	blood:	n/a
31	chr11:5442434-5442484	HCM	heart:	n/a
32	chr11:5442434-5442484	MCF-7	breast:	n/a
33	chr11:5442434-5442484	HUVEC	blood vessel:	n/a
34	chr11:5442443-5442493	GM12892	blood:	n/a
35	chr11:5442511-5442561	NB4	blood:	n/a
36	chr11:5442511-5442561	RPTEC	kidney:	n/a
37	chr11:5444223-5444273	NH-A	brain:	n/a
38	chr11:5444223-5444273	HCT-116	colon:	n/a
39	chr11:5442511-5442561	AG09319	gingival:	n/a
40	chr11:5442434-5442484	HRE	kidney:	n/a
41	chr11:5433817-5433867	HEEpiC	esophagus:	n/a
42	chr11:5442443-5442493	HCM	heart:	n/a
43	chr11:5442443-5442493	GM19239	blood:	n/a
44	chr11:5433817-5433867	A549	lung:	n/a
45	chr11:5442434-5442484	Jurkat	blood:	n/a
46	chr11:5442434-5442484	AG10803	skin:	n/a
47	chr11:5433817-5433867	ProgFib	skin:	n/a
48	chr11:5442443-5442493	Hepatocyte	liver:	n/a
49	chr11:5442511-5442561	NHDF-neo	bronchial:	n/a
50	chr11:5433817-5433867	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:5438689..5441571-chr11:5444297..5446358,2	K562	blood:
2	chr11:5438689..5441571-chr11:5444297..5446358,2	K562	blood:
3	chr11:5448582..5452295-chr11:5454742..5458081,4	K562	blood:
4	chr11:5402054..5402614-chr11:5441811..5442439,2	MCF-7	breast:
5	chr11:5442840..5444659-chr11:5449789..5452716,3	K562	blood:

No data

Variant related genes	Relation type
OR51Q1	TF binding region
OR51Q1	CpG island
ENSG00000167360	chromatin interactions

Extended variants
information (count: 1294 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1294 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1391612	chr11:5427118-5427119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116388186	chr11:5427127-5427128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16930526	chr11:5427179-5427180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374081730	chr11:5427185-5427186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1353736	chr11:5427222-5427223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565492635	chr11:5427230-5427231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532558628	chr11:5427291-5427292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548114955	chr11:5427343-5427344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145562893	chr11:5427354-5427355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185298741	chr11:5427381-5427382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72878140	chr11:5427418-5427419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1391611	chr11:5427434-5427435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1391610	chr11:5427455-5427456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188395221	chr11:5427459-5427460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369509705	chr11:5427480-5427481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377694110	chr11:5427483-5427484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181881462	chr11:5427490-5427491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570477811	chr11:5427517-5427518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574430846	chr11:5427588-5427589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199689113	chr11:5427605-5427606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535345435	chr11:5427634-5427635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114001026	chr11:5427657-5427658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187055550	chr11:5427659-5427660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192389846	chr11:5427665-5427666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16930536	chr11:5427666-5427667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183244760	chr11:5427673-5427674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541686691	chr11:5427736-5427737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187015437	chr11:5427768-5427769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530445511	chr11:5427789-5427790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542513760	chr11:5427797-5427798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537901164	chr11:5427803-5427804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530771888	chr11:5427875-5427876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552642313	chr11:5427921-5427922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190079214	chr11:5427968-5427969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528553000	chr11:5428028-5428029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546422750	chr11:5428105-5428106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116703878	chr11:5428109-5428110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4910781	chr11:5428126-5428127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556937503	chr11:5428130-5428131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1498478	chr11:5428137-5428138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539110628	chr11:5428163-5428164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4910782	chr11:5428190-5428191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573010747	chr11:5428220-5428221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114252712	chr11:5428252-5428253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182710229	chr11:5428256-5428257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148887466	chr11:5428311-5428312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542548319	chr11:5428317-5428318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186591765	chr11:5428373-5428374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191136769	chr11:5428378-5428379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1391609	chr11:5428424-5428425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5425800-5432400	Weak transcription	K562	blood
2	chr11:5429600-5430000	Enhancers	Fetal Kidney	kidney
3	chr11:5432400-5433400	Enhancers	K562	blood
4	chr11:5433000-5433400	Enhancers	Hela-S3	cervix
5	chr11:5433200-5433600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:5433200-5433800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:5433400-5433600	Flanking Active TSS	K562	blood
8	chr11:5433400-5433800	Active TSS	A549	lung
9	chr11:5433600-5433800	Active TSS	K562	blood
10	chr11:5433600-5434000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:5433800-5434400	Enhancers	K562	blood
12	chr11:5434400-5440400	Weak transcription	K562	blood
13	chr11:5440400-5441200	Strong transcription	K562	blood
14	chr11:5441200-5442400	Weak transcription	K562	blood
15	chr11:5442400-5444400	Strong transcription	K562	blood
16	chr11:5444000-5445000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:5444400-5447000	Weak transcription	K562	blood
18	chr11:5445000-5445200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:5445200-5445600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:5445400-5446000	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:5445600-5448400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:5446800-5447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:5447000-5448800	Strong transcription	K562	blood
24	chr11:5447200-5447800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:5447800-5448000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:5448000-5448200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:5448200-5448400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:5448400-5448600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:5448400-5448600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:5448600-5449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:5448800-5450000	Weak transcription	K562	blood
32	chr11:5449000-5451400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:5450000-5450800	Genic enhancers	K562	blood

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