Variant report

Variant	nsv897146
Chromosome Location	chr11:26913936-27019331
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	BACH1	chr11:26949803-26950150	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr11:26969576-26969791	GM12878	blood:	n/a	n/a
3	BHLHE40	chr11:26936491-26936857	GM12878	blood:	n/a	n/a
4	BRCA1	chr11:26953432-26953554	GM12878	blood:	n/a	n/a
5	CEBPB	chr11:27013429-27014037	IMR90	lung:	n/a	chr11:27013752-27013765 chr11:27013643-27013656 chr11:27013752-27013765 chr11:27013644-27013655 chr11:27013643-27013654
6	CEBPB	chr11:27015433-27015769	IMR90	lung:	n/a	n/a
7	CEBPB	chr11:26976915-26977200	IMR90	lung:	n/a	n/a
8	CEBPB	chr11:27015489-27015689	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr11:26971646-26972407	IMR90	lung:	n/a	chr11:26972145-26972156 chr11:26972144-26972155 chr11:26972144-26972157
10	CEBPB	chr11:27015459-27015719	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr11:26935218-26935530	A549	lung:	n/a	chr11:26935374-26935387 chr11:26935352-26935363 chr11:26935375-26935386
12	CEBPB	chr11:26935235-26935542	HepG2	liver:	n/a	chr11:26935374-26935387 chr11:26935352-26935363 chr11:26935375-26935386
13	CEBPB	chr11:26969171-26969370	HepG2	liver:	n/a	chr11:26969275-26969286
14	CEBPB	chr11:26952411-26952608	HepG2	liver:	n/a	n/a
15	CEBPB	chr11:27013506-27013842	A549	lung:	n/a	chr11:27013752-27013765 chr11:27013643-27013656 chr11:27013752-27013765 chr11:27013644-27013655 chr11:27013643-27013654
16	CEBPB	chr11:26952290-26953065	IMR90	lung:	n/a	n/a
17	CEBPB	chr11:27011756-27011784	A549	lung:	n/a	n/a
18	CEBPB	chr11:27013459-27013901	Hela-S3	cervix:	n/a	chr11:27013752-27013765 chr11:27013643-27013656 chr11:27013752-27013765 chr11:27013644-27013655 chr11:27013643-27013654
19	CEBPB	chr11:26972015-26972213	HepG2	liver:	n/a	chr11:26972145-26972156 chr11:26972144-26972155 chr11:26972144-26972157
20	CEBPB	chr11:26969118-26969792	Hela-S3	cervix:	n/a	chr11:26969275-26969286 chr11:26969660-26969673
21	CEBPB	chr11:26928815-26928969	HepG2	liver:	n/a	chr11:26928918-26928929
22	CEBPB	chr11:26975456-26975793	IMR90	lung:	n/a	chr11:26975619-26975632 chr11:26975619-26975632
23	CEBPB	chr11:27013478-27013821	HepG2	liver:	n/a	chr11:27013752-27013765 chr11:27013643-27013656 chr11:27013752-27013765 chr11:27013644-27013655 chr11:27013643-27013654
24	CEBPB	chr11:26968586-26969857	IMR90	lung:	n/a	chr11:26969275-26969286 chr11:26969660-26969673
25	CTCF	chr11:27016300-27016450	NHEK	skin:	n/a	n/a
26	CTCF	chr11:26971800-26971950	AG10803	skin:	n/a	n/a
27	CTCF	chr11:27015480-27015630	AG04450	lung:	n/a	n/a
28	CTCF	chr11:26927060-26927210	NHLF	lung:	n/a	n/a
29	CTCF	chr11:27016180-27016330	RPTEC	kidney:	n/a	n/a
30	CTCF	chr11:27015580-27015730	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr11:26956820-26956970	GM12872	blood:	n/a	n/a
32	CTCF	chr11:26971915-26972077	Fibrobl	skin:	n/a	n/a
33	CTCF	chr11:26927040-26927190	BJ	skin:	n/a	n/a
34	CTCF	chr11:27016280-27016430	AG04449	skin:	n/a	n/a
35	CTCF	chr11:27015640-27015790	AG09319	gingival:	n/a	n/a
36	CTCF	chr11:26927000-26927150	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr11:26998880-26999030	K562	blood:	n/a	n/a
38	CTCF	chr11:27015620-27015770	HVMF	connective:	n/a	n/a
39	CTCF	chr11:26998890-26998972	K562	blood:	n/a	n/a
40	CTCF	chr11:26971860-26972010	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr11:27016200-27016350	AG09319	gingival:	n/a	n/a
42	CTCF	chr11:27015580-27015730	HCM	heart:	n/a	n/a
43	CTCF	chr11:26998880-26999030	HepG2	liver:	n/a	n/a
44	CTCF	chr11:27015820-27015970	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr11:27015660-27015810	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr11:27016320-27016470	AG10803	skin:	n/a	n/a
47	CTCF	chr11:26972020-26972170	AG10803	skin:	n/a	n/a
48	CTCF	chr11:26927060-26927210	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr11:27016240-27016390	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr11:27015898-27015958	Kidney_OC	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:27015519-27015569	PANC-1	pancreas:	n/a
2	chr11:27015872-27015922	SK-N-SH	brain:	n/a
3	chr11:27015519-27015569	PANC-1	pancreas:	n/a
4	chr11:27015872-27015922	SK-N-SH	brain:	n/a
5	chr11:26996054-26996104	IMR90	lung:	fetal
6	chr11:27015872-27015922	HAEpiC	amniotic membrane:	n/a
7	chr11:26996054-26996104	HL-60	blood:	n/a
8	chr11:26968547-26968597	K562	blood:	n/a
9	chr11:26951784-26951834	Jurkat	blood:	n/a
10	chr11:26968547-26968597	A549	lung:	n/a
11	chr11:27015872-27015922	MCF10A-Er-Src	breast:	n/a
12	chr11:27015872-27015922	HepG2	liver:	n/a
13	chr11:27015991-27016041	IMR90	lung:	fetal
14	chr11:27015991-27016041	AG04450	lung:	fetal
15	chr11:26971995-26972045	GM12891	blood:	n/a
16	chr11:27015813-27015863	Hepatocyte	liver:	n/a
17	chr11:26986089-26986139	IMR90	lung:	fetal
18	chr11:26973309-26973359	HCM	heart:	n/a
19	chr11:26968547-26968597	PFSK-1	brain:	n/a
20	chr11:26973309-26973359	RPTEC	kidney:	n/a
21	chr11:27017005-27017055	HAEpiC	amniotic membrane:	n/a
22	chr11:26973309-26973359	PANC-1	pancreas:	n/a
23	chr11:26973309-26973359	LNCaP	prostate:	n/a
24	chr11:27017005-27017055	NHDF-neo	bronchial:	n/a
25	chr11:26951784-26951834	MCF10A-Er-Src	breast:	n/a
26	chr11:26973309-26973359	Caco-2	colon:	n/a
27	chr11:27015656-27015706	HCT-116	colon:	n/a
28	chr11:27015808-27015858	SKMC	muscle:	n/a
29	chr11:27015872-27015922	NHBE	bronchial:	n/a
30	chr11:27016671-27016721	Hela-S3	cervix:	n/a
31	chr11:26973309-26973359	AG10803	skin:	n/a
32	chr11:26996054-26996104	HEEpiC	esophagus:	n/a
33	chr11:26973309-26973359	BJ	skin:	n/a
34	chr11:27015656-27015706	AG09319	gingival:	n/a
35	chr11:26997229-26997279	HRCEpiC	kidney:	n/a
36	chr11:27015872-27015922	SAEC	small airway:	n/a
37	chr11:27015656-27015706	H1-hESC	embryonic stem cell:	embryo
38	chr11:27017005-27017055	HL-60	blood:	n/a
39	chr11:26951784-26951834	GM12892	blood:	n/a
40	chr11:26973309-26973359	HCF	heart:	n/a
41	chr11:26951784-26951834	CMK	blood:	n/a
42	chr11:26996054-26996104	HEK293	kidney:	embryo
43	chr11:26971995-26972045	U87	brain:	n/a
44	chr11:26996054-26996104	SK-N-MC	brain:	n/a
45	chr11:27015808-27015858	Caco-2	colon:	n/a
46	chr11:27015813-27015863	SKMC	muscle:	n/a
47	chr11:26968547-26968597	CMK	blood:	n/a
48	chr11:27015592-27015642	ovcar-3	ovarian:	n/a
49	chr11:26997229-26997279	HCT-116	colon:	n/a
50	chr11:27016671-27016721	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:26953777..26956104-chr11:26958863..26961246,2	K562	blood:
2	chr11:26951076..26953740-chr11:26955796..26957313,2	MCF-7	breast:
3	chr11:26951076..26953740-chr11:26955796..26957313,2	MCF-7	breast:
4	chr11:27016139..27017650-chr11:27021439..27023753,2	K562	blood:
5	chr11:26953777..26956104-chr11:26958863..26961246,2	K562	blood:
6	chr11:26954017..26956104-chr11:26959024..26961246,2	K562	blood:
7	chr11:26915750..26917810-chr11:26918907..26921852,2	MCF-7	breast:
8	chr11:26954017..26956104-chr11:26959024..26961246,2	K562	blood:
9	chr11:26915750..26917810-chr11:26918907..26921852,2	MCF-7	breast:

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

Extended variants
information (count: 3221 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:3221 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56065355	chr11:26913936-26913937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372104854	chr11:26913960-26913961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56023146	chr11:26913963-26913964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556776223	chr11:26913977-26913978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575109008	chr11:26913986-26913987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539203933	chr11:26913989-26913990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61087583	chr11:26913991-26913992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573256549	chr11:26914028-26914029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556132718	chr11:26914113-26914114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540304588	chr11:26914126-26914127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77736759	chr11:26914169-26914170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574432515	chr11:26914205-26914206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374187324	chr11:26914217-26914218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139174495	chr11:26914220-26914221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187507408	chr11:26914221-26914222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58878618	chr11:26914222-26914223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191862659	chr11:26914248-26914249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564060531	chr11:26914254-26914255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572153533	chr11:26914321-26914322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528165185	chr11:26914358-26914359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546323896	chr11:26914363-26914364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182911723	chr11:26914397-26914398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555002610	chr11:26914442-26914443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535045975	chr11:26914456-26914457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550467099	chr11:26914467-26914468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367746549	chr11:26914493-26914494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10835082	chr11:26914498-26914499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574345201	chr11:26914523-26914524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539267275	chr11:26914594-26914595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78283216	chr11:26914628-26914629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541190655	chr11:26914692-26914693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142587507	chr11:26914695-26914696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76457850	chr11:26914699-26914700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559296783	chr11:26914733-26914734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534297360	chr11:26914736-26914737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555519278	chr11:26914764-26914765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114136742	chr11:26914786-26914787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544589406	chr11:26914788-26914789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114766030	chr11:26914817-26914818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577799799	chr11:26914881-26914882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4329641	chr11:26914898-26914899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs545298794	chr11:26914901-26914902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369559536	chr11:26914912-26914913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11029736	chr11:26914925-26914926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560732879	chr11:26914976-26914977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188117901	chr11:26915004-26915005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540330231	chr11:26915061-26915062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561402354	chr11:26915062-26915063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528880589	chr11:26915068-26915069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112077384	chr11:26915095-26915096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26913400-26918200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:26913800-26927200	Weak transcription	Esophagus	oesophagus
3	chr11:26918200-26919400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:26918400-26918600	Enhancers	Aorta	Aorta
5	chr11:26918400-26918800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:26918600-26919200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:26918800-26925400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:26919200-26922400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:26919400-26922400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:26922000-26923200	Enhancers	Fetal Kidney	kidney
11	chr11:26922200-26923000	Enhancers	Fetal Stomach	stomach
12	chr11:26922200-26923400	Enhancers	Rectal Smooth Muscle	rectum
13	chr11:26922200-26923600	Enhancers	Colon Smooth Muscle	Colon
14	chr11:26922400-26923200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:26922400-26923400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:26922600-26923000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:26922600-26923000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:26922600-26923000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:26922600-26923200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:26922600-26923200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:26923000-26925400	Weak transcription	Fetal Stomach	stomach
22	chr11:26923000-26925800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:26923000-26927000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:26923200-26925200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:26923200-26925200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:26923400-26925400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:26923600-26924200	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:26924200-26927200	Enhancers	Colon Smooth Muscle	Colon
29	chr11:26925000-26925200	Enhancers	Fetal Kidney	kidney
30	chr11:26925000-26925200	Weak transcription	Ovary	ovary
31	chr11:26925000-26927200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:26925000-26927200	Enhancers	Fetal Lung	lung
33	chr11:26925200-26926000	Enhancers	Ovary	ovary
34	chr11:26925200-26927200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:26925200-26927200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:26925200-26927400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:26925200-26928000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:26925400-26925600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:26925400-26926000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:26925400-26926000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:26925400-26926000	Enhancers	Fetal Muscle Leg	muscle
42	chr11:26925400-26926000	Enhancers	Fetal Stomach	stomach
43	chr11:26925400-26926200	Enhancers	H1 Cell Line	embryonic stem cell
44	chr11:26925400-26927000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:26925400-26927000	Enhancers	Rectal Smooth Muscle	rectum
46	chr11:26925400-26927400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:26925600-26926200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr11:26925600-26926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:26925600-26926400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:26925600-26927200	Enhancers	HUES6 Cell Line	embryonic stem cell

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