Variant report

Variant	nsv518571
Chromosome Location	chr11:49162948-49627833
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	BRCA1	chr11:49169276-49169286	Hela-S3	cervix:	n/a	n/a
2	BRCA1	chr11:49276871-49276887	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:49386995-49387262	Hela-S3	cervix:	n/a	chr11:49387090-49387107
4	CEBPB	chr11:49490187-49490529	IMR90	lung:	n/a	n/a
5	CEBPB	chr11:49176276-49176584	HepG2	liver:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
6	CEBPB	chr11:49464313-49464513	HepG2	liver:	n/a	chr11:49464339-49464350
7	CEBPB	chr11:49539391-49539648	IMR90	lung:	n/a	chr11:49539560-49539571
8	CEBPB	chr11:49441094-49441294	HepG2	liver:	n/a	chr11:49441253-49441264
9	CEBPB	chr11:49386995-49387243	A549	lung:	n/a	chr11:49387090-49387107
10	CEBPB	chr11:49176297-49176560	IMR90	lung:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
11	CEBPB	chr11:49254642-49254944	HepG2	liver:	n/a	chr11:49254764-49254775
12	CEBPB	chr11:49502468-49502676	A549	lung:	n/a	n/a
13	CEBPB	chr11:49377197-49377351	K562	blood:	n/a	chr11:49377237-49377248
14	CEBPB	chr11:49332869-49333147	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:49464233-49464511	Hela-S3	cervix:	n/a	chr11:49464339-49464350
16	CEBPB	chr11:49387001-49387231	IMR90	lung:	n/a	chr11:49387090-49387107
17	CEBPB	chr11:49176304-49176533	A549	lung:	n/a	chr11:49176450-49176463 chr11:49176420-49176429 chr11:49176418-49176429 chr11:49176450-49176461 chr11:49176420-49176431
18	CEBPB	chr11:49615707-49615848	HepG2	liver:	n/a	chr11:49615780-49615791 chr11:49615782-49615791 chr11:49615781-49615792 chr11:49615780-49615793
19	CEBPB	chr11:49627187-49627468	HepG2	liver:	n/a	chr11:49627349-49627360 chr11:49627349-49627362
20	CEBPB	chr11:49490254-49490445	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr11:49230862-49231062	A549	lung:	n/a	chr11:49230953-49230970
22	CEBPB	chr11:49254574-49254946	Hela-S3	cervix:	n/a	chr11:49254764-49254775
23	CEBPB	chr11:49490218-49490477	HepG2	liver:	n/a	n/a
24	CEBPB	chr11:49254638-49254944	A549	lung:	n/a	chr11:49254764-49254775
25	CEBPB	chr11:49490202-49490505	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:49254600-49254929	IMR90	lung:	n/a	chr11:49254764-49254775
27	CEBPB	chr11:49490231-49490541	K562	blood:	n/a	n/a
28	CEBPB	chr11:49539385-49539635	HepG2	liver:	n/a	chr11:49539560-49539571
29	CEBPB	chr11:49627245-49627460	A549	lung:	n/a	chr11:49627349-49627360 chr11:49627349-49627362
30	CEBPB	chr11:49410762-49410940	HepG2	liver:	n/a	n/a
31	CEBPB	chr11:49332880-49333223	IMR90	lung:	n/a	n/a
32	CEBPB	chr11:49230935-49231032	HepG2	liver:	n/a	chr11:49230953-49230970
33	CEBPB	chr11:49509838-49510050	HepG2	liver:	n/a	chr11:49509962-49509973
34	CTCF	chr11:49191243-49191392	GM12878	blood:	n/a	chr11:49191312-49191333 chr11:49191317-49191335
35	CTCF	chr11:49547800-49547950	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:49548060-49548210	GM12872	blood:	n/a	n/a
37	CTCF	chr11:49476003-49476107	LNCaP	prostate:	n/a	n/a
38	CTCF	chr11:49548100-49548250	BE2_C	brain:	n/a	n/a
39	CTCF	chr11:49191160-49191310	A549	lung:	n/a	n/a
40	CTCF	chr11:49547900-49548050	AG09309	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
41	CTCF	chr11:49253444-49253484	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr11:49547940-49548090	BJ	skin:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
43	CTCF	chr11:49393808-49393948	HepG2	liver:	n/a	n/a
44	CTCF	chr11:49547900-49548050	HEK293	kidney:	n/a	chr11:49547983-49548004 chr11:49547988-49548006
45	CTCF	chr11:49541828-49541902	LNCaP	prostate:	n/a	n/a
46	CTCF	chr11:49547610-49547639	GM10266	blood:	n/a	n/a
47	CTCF	chr11:49393800-49393950	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:49191160-49191310	GM12873	blood:	n/a	n/a
49	CTCF	chr11:49273666-49273687	GM20000	blood:	n/a	n/a
50	CTCF	chr11:49198549-49198577	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:49453027-49453077	HRE	kidney:	n/a
2	chr11:49453027-49453077	HRE	kidney:	n/a
3	chr11:49580074-49580124	MCF-7	breast:	n/a
4	chr11:49455166-49455216	HCT-116	colon:	n/a
5	chr11:49579997-49580047	MCF10A-Er-Src	breast:	n/a
6	chr11:49455214-49455264	HCT-116	colon:	n/a
7	chr11:49581783-49581833	PANC-1	pancreas:	n/a
8	chr11:49583127-49583177	BJ	skin:	n/a
9	chr11:49455214-49455264	HCM	heart:	n/a
10	chr11:49455851-49455901	NHDF-neo	bronchial:	n/a
11	chr11:49455936-49455986	AG09319	gingival:	n/a
12	chr11:49229833-49229883	GM19239	blood:	n/a
13	chr11:49226370-49226420	HepG2	liver:	n/a
14	chr11:49580019-49580069	AG04450	lung:	fetal
15	chr11:49580074-49580124	AG09309	skin:	n/a
16	chr11:49580017-49580067	GM12878	blood:	n/a
17	chr11:49580310-49580360	HRE	kidney:	n/a
18	chr11:49580019-49580069	HCM	heart:	n/a
19	chr11:49580074-49580124	HRPEpiC	eye:	n/a
20	chr11:49580019-49580069	HRPEpiC	eye:	n/a
21	chr11:49579457-49579507	GM12892	blood:	n/a
22	chr11:49580019-49580069	HEK293	kidney:	embryo
23	chr11:49230548-49230598	PFSK-1	brain:	n/a
24	chr11:49230036-49230086	RPTEC	kidney:	n/a
25	chr11:49581783-49581833	HL-60	blood:	n/a
26	chr11:49456067-49456117	NB4	blood:	n/a
27	chr11:49580017-49580067	MCF-7	breast:	n/a
28	chr11:49579997-49580047	HAEpiC	amniotic membrane:	n/a
29	chr11:49455164-49455214	NHDF-neo	bronchial:	n/a
30	chr11:49458195-49458245	SK-N-MC	brain:	n/a
31	chr11:49229833-49229883	NB4	blood:	n/a
32	chr11:49580017-49580067	T-47D	breast:	n/a
33	chr11:49230548-49230598	HRPEpiC	eye:	n/a
34	chr11:49230548-49230598	H1-hESC	embryonic stem cell:	embryo
35	chr11:49230548-49230598	AG04449	skin:	fetal
36	chr11:49230036-49230086	K562	blood:	n/a
37	chr11:49580019-49580069	MCF-7	breast:	n/a
38	chr11:49230168-49230218	HMEC	breast:	n/a
39	chr11:49580310-49580360	H1-hESC	embryonic stem cell:	embryo
40	chr11:49455164-49455214	IMR90	lung:	fetal
41	chr11:49455166-49455216	PrEC	prostate:	n/a
42	chr11:49456067-49456117	HRCEpiC	kidney:	n/a
43	chr11:49582872-49582922	ProgFib	skin:	n/a
44	chr11:49230168-49230218	BJ	skin:	n/a
45	chr11:49215449-49215499	GM12892	blood:	n/a
46	chr11:49456196-49456246	ovcar-3	ovarian:	n/a
47	chr11:49579457-49579507	SK-N-SH_RA	brain:	n/a
48	chr11:49580017-49580067	RPTEC	kidney:	n/a
49	chr11:49455164-49455214	BJ	skin:	n/a
50	chr11:49456196-49456246	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:
2	chr11:49250422..49251012-chr11:49547571..49548253,2	MCF-7	breast:
3	chr11:49251863..49252437-chr11:49547367..49548407,3	MCF-7	breast:
4	chr11:48478071..48478587-chr11:49191267..49191777,2	MCF-7	breast:
5	chr11:49250422..49251012-chr11:49547571..49548253,2	MCF-7	breast:
6	chr11:48194206..48195039-chr11:49190936..49191807,2	MCF-7	breast:
7	chr11:49547545..49548055-chr11:50016701..50017446,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084851.1-9	chr11:49454982-49456076	NONHSAT021316
2	lnc-AC084851.1-8	chr11:49427742-49428266	NONHSAT021315
3	lnc-AC084851.1-9	chr11:49453962-49453989	NONHSAT021316

Variant related genes	Relation type
TYRL	TF binding region
FOLH1	TF binding region
ENSG00000226268	TF binding region
ENSG00000255532	TF binding region
CBX3P8	TF binding region
ENSG00000205035	TF binding region
TYRL	CpG island
FOLH1	CpG island
ENSG00000226268	CpG island
ENSG00000255532	CpG island
CBX3P8	CpG island
ENSG00000205035	CpG island

Extended variants
information (count: 7128 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:7128 , 50 per page) page: 1 2 3 4 5 6 7 ... 143

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187906553	chr11:49164236-49164237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9715652	chr11:49164253-49164254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77148530	chr11:49164277-49164278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79548461	chr11:49164280-49164281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79160515	chr11:49164281-49164282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75778793	chr11:49164283-49164284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75248239	chr11:49164284-49164285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189734735	chr11:49164292-49164293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74649031	chr11:49164297-49164298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570450211	chr11:49164299-49164300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556228629	chr11:49164300-49164301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71450952	chr11:49164309-49164310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77845057	chr11:49164338-49164339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4458694	chr11:49164345-49164346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76534230	chr11:49164349-49164350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575909199	chr11:49164352-49164353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79347271	chr11:49164368-49164369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79034597	chr11:49164380-49164381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556850240	chr11:49164381-49164382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79368760	chr11:49164385-49164386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564627143	chr11:49164393-49164394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74473463	chr11:49164396-49164397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77062113	chr11:49164409-49164410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374708265	chr11:49164435-49164436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572348672	chr11:49164436-49164437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541371475	chr11:49164461-49164462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62326132	chr11:49164462-49164463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34002937	chr11:49164466-49164467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535698155	chr11:49164527-49164528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35042117	chr11:49164569-49164570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564093698	chr11:49164591-49164592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11826051	chr11:49164594-49164595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545935503	chr11:49164623-49164624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562989644	chr11:49164631-49164632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372203688	chr11:49164681-49164682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531737022	chr11:49164706-49164707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138734860	chr11:49164724-49164725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547949209	chr11:49164725-49164726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182344862	chr11:49164735-49164736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527942584	chr11:49164788-49164789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548089826	chr11:49164869-49164870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187099710	chr11:49164956-49164957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570908870	chr11:49164977-49164978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540035879	chr11:49164985-49164986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550151080	chr11:49165014-49165015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7116845	chr11:49165041-49165042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535574700	chr11:49165075-49165076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369625874	chr11:49165090-49165091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147365028	chr11:49165117-49165118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566075403	chr11:49165162-49165163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	17426248	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49164200-49169200	Weak transcription	Fetal Intestine Large	intestine
2	chr11:49164600-49184200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:49165600-49165800	ZNF genes & repeats	Brain Hippocampus Middle	brain
4	chr11:49165600-49167800	Weak transcription	Liver	Liver
5	chr11:49165800-49166000	Enhancers	Brain Hippocampus Middle	brain
6	chr11:49165800-49168800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:49166000-49184200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:49167800-49168000	Strong transcription	Liver	Liver
9	chr11:49167800-49172600	Weak transcription	Fetal Lung	lung
10	chr11:49168000-49168200	Weak transcription	Liver	Liver
11	chr11:49168200-49168400	Strong transcription	Liver	Liver
12	chr11:49168400-49169200	Weak transcription	Liver	Liver
13	chr11:49168800-49169600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr11:49169200-49169600	Strong transcription	Liver	Liver
15	chr11:49169200-49169800	Strong transcription	Fetal Intestine Large	intestine
16	chr11:49169600-49174400	Weak transcription	Liver	Liver
17	chr11:49169600-49175800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:49169800-49170200	Weak transcription	Fetal Intestine Large	intestine
19	chr11:49170200-49171000	Strong transcription	Fetal Intestine Large	intestine
20	chr11:49171000-49172600	Weak transcription	Fetal Intestine Large	intestine
21	chr11:49171400-49197600	Weak transcription	Brain Substantia Nigra	brain
22	chr11:49171600-49190800	Weak transcription	Small Intestine	intestine
23	chr11:49172600-49173200	Strong transcription	Fetal Lung	lung
24	chr11:49172600-49173400	Strong transcription	Fetal Intestine Large	intestine
25	chr11:49173200-49184000	Weak transcription	Fetal Lung	lung
26	chr11:49173400-49177200	Weak transcription	Fetal Intestine Large	intestine
27	chr11:49174400-49176400	Strong transcription	Liver	Liver
28	chr11:49175800-49176600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:49176200-49186800	Weak transcription	Ovary	ovary
30	chr11:49176400-49183200	Weak transcription	Liver	Liver
31	chr11:49176600-49183800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:49177200-49177800	Strong transcription	Fetal Intestine Large	intestine
33	chr11:49177800-49183400	Weak transcription	Fetal Intestine Large	intestine
34	chr11:49182400-49184400	Weak transcription	Fetal Stomach	stomach
35	chr11:49182800-49185200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:49183200-49186200	Strong transcription	Liver	Liver
37	chr11:49183400-49190000	Strong transcription	Fetal Intestine Large	intestine
38	chr11:49183800-49185600	Weak transcription	Brain Anterior Caudate	brain
39	chr11:49183800-49186800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:49184000-49185600	Strong transcription	Fetal Lung	lung
41	chr11:49184200-49184600	Strong transcription	Fetal Intestine Small	intestine
42	chr11:49184200-49185600	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:49184200-49193400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:49184400-49185600	Strong transcription	Fetal Stomach	stomach
45	chr11:49184400-49186800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr11:49184600-49185600	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr11:49184800-49208400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:49185200-49185600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr11:49185200-49185600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:49185600-49188200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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