Variant report

Variant	esv3387998
Chromosome Location	chr11:71132818-71134521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:71133306-71133369	A549	lung:	n/a	n/a
2	CTCF	chr11:71132797-71132890	GM10266	blood:	n/a	n/a
3	CTCF	chr11:71132814-71132883	GM12891	blood:	n/a	n/a
4	CTCF	chr11:71134357-71134386	GM12892	blood:	n/a	n/a
5	CTCF	chr11:71132760-71132910	GM12873	blood:	n/a	n/a
6	CTCF	chr11:71132820-71132879	GM12892	blood:	n/a	n/a
7	CTCF	chr11:71132801-71132851	HepG2	liver:	n/a	n/a
8	CTCF	chr11:71132810-71132861	GM19239	blood:	n/a	n/a
9	CTCF	chr11:71134180-71134330	GM12869	blood:	n/a	n/a
10	CTCF	chr11:71132790-71132907	GM19238	blood:	n/a	n/a
11	EBF1	chr11:71134193-71134627	GM12878	blood:	n/a	chr11:71134421-71134432
12	EBF1	chr11:71132735-71133041	GM12878	blood:	n/a	chr11:71132888-71132899
13	EBF1	chr11:71134251-71134510	GM12878	blood:	n/a	chr11:71134421-71134432
14	MAFF	chr11:71132802-71132989	K562	blood:	n/a	chr11:71132905-71132923
15	MAFF	chr11:71132727-71133046	HepG2	liver:	n/a	chr11:71132905-71132923
16	MAFK	chr11:71132810-71132942	Hela-S3	cervix:	n/a	chr11:71132906-71132921
17	MAFK	chr11:71132819-71132945	K562	blood:	n/a	chr11:71132906-71132921
18	MAFK	chr11:71132621-71133075	HepG2	liver:	n/a	chr11:71132906-71132921
19	MAFK	chr11:71134382-71134501	HepG2	liver:	n/a	n/a
20	MAFK	chr11:71132751-71132951	IMR90	lung:	n/a	chr11:71132906-71132921
21	MAFK	chr11:71132633-71133035	HepG2	liver:	n/a	chr11:71132906-71132921
22	SPI1	chr11:71132785-71133005	GM12878	blood:	n/a	n/a
23	SPI1	chr11:71134134-71134742	GM12878	blood:	n/a	chr11:71134475-71134484
24	SPI1	chr11:71134386-71134531	GM12878	blood:	n/a	chr11:71134475-71134484
25	SPI1	chr11:71132725-71133001	GM12891	blood:	n/a	n/a
26	SPI1	chr11:71134303-71134592	GM12891	blood:	n/a	chr11:71134475-71134484
27	SPI1	chr11:71134321-71134527	GM12878	blood:	n/a	chr11:71134475-71134484
28	SPI1	chr11:71132873-71133015	GM12878	blood:	n/a	n/a
29	STAT3	chr11:71134394-71134504	MCF10A-Er-Src	breast:	n/a	n/a
30	ZEB1	chr11:71134227-71134469	GM12878	blood:	n/a	n/a
31	ZNF384	chr11:71132837-71132898	GM12878	blood:	n/a	n/a
32	ZNF384	chr11:71134283-71134735	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71134417-71134467	HIPEpiC	eye:	n/a
2	chr11:71134417-71134467	NH-A	brain:	n/a
3	chr11:71134417-71134467	NHDF-neo	bronchial:	n/a
4	chr11:71134417-71134467	GM19239	blood:	n/a
5	chr11:71134417-71134467	PFSK-1	brain:	n/a
6	chr11:71134417-71134467	ProgFib	skin:	n/a
7	chr11:71134417-71134467	HL-60	blood:	n/a
8	chr11:71134417-71134467	HUVEC	blood vessel:	n/a
9	chr11:71134417-71134467	ECC-1	luminal epithelium:	n/a
10	chr11:71134417-71134467	HRPEpiC	eye:	n/a
11	chr11:71134417-71134467	K562	blood:	n/a
12	chr11:71134417-71134467	PANC-1	pancreas:	n/a
13	chr11:71134417-71134467	AG09309	skin:	n/a
14	chr11:71134417-71134467	NT2-D1	testis:	n/a
15	chr11:71134417-71134467	LNCaP	prostate:	n/a
16	chr11:71134417-71134467	Caco-2	colon:	n/a
17	chr11:71134417-71134467	AG09319	gingival:	n/a
18	chr11:71134417-71134467	GM12878	blood:	n/a
19	chr11:71134417-71134467	BE2_C	brain:	n/a
20	chr11:71134417-71134467	Jurkat	blood:	n/a
21	chr11:71134417-71134467	SK-N-SH_RA	brain:	n/a
22	chr11:71134417-71134467	AoSMC	blood vessel:	n/a
23	chr11:71134417-71134467	AG04450	lung:	fetal
24	chr11:71134417-71134467	GM12892	blood:	n/a
25	chr11:71134417-71134467	SAEC	small airway:	n/a
26	chr11:71134417-71134467	CMK	blood:	n/a
27	chr11:71134417-71134467	T-47D	breast:	n/a
28	chr11:71134417-71134467	H1-hESC	embryonic stem cell:	embryo
29	chr11:71134417-71134467	PrEC	prostate:	n/a
30	chr11:71134417-71134467	HEK293	kidney:	embryo
31	chr11:71134417-71134467	HCPEpiC	choroid plexus:	n/a
32	chr11:71134417-71134467	HepG2	liver:	n/a
33	chr11:71134417-71134467	U87	brain:	n/a
34	chr11:71134417-71134467	MCF-7	breast:	n/a
35	chr11:71134417-71134467	BJ	skin:	n/a
36	chr11:71134417-71134467	HEEpiC	esophagus:	n/a
37	chr11:71134417-71134467	HNPCEpiC	eye:	n/a
38	chr11:71134417-71134467	HCF	heart:	n/a
39	chr11:71134417-71134467	Hepatocyte	liver:	n/a
40	chr11:71134417-71134467	IMR90	lung:	fetal
41	chr11:71134417-71134467	AG10803	skin:	n/a
42	chr11:71134417-71134467	RPTEC	kidney:	n/a
43	chr11:71134417-71134467	HAEpiC	amniotic membrane:	n/a
44	chr11:71134417-71134467	HCT-116	colon:	n/a
45	chr11:71134417-71134467	ovcar-3	ovarian:	n/a
46	chr11:71134417-71134467	NHBE	bronchial:	n/a
47	chr11:71134417-71134467	MCF10A-Er-Src	breast:	n/a
48	chr11:71134417-71134467	GM06990	blood:	n/a
49	chr11:71134417-71134467	SKMC	muscle:	n/a
50	chr11:71134417-71134467	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71131198..71133245-chr11:71150610..71153048,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHCR7-3	chr11:71132847-71132950	NONHSAT022677
2	lnc-DHCR7-3	chr11:71134380-71134469	NONHSAT022677

No data

Variant related genes	Relation type
ENSG00000172900	TF binding region
ENSG00000172900	CpG island
ENSG00000172893	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561742354	chr11:71132833-71132834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374789302	chr11:71132835-71132836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12803256	chr11:71132868-71132869	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs548439431	chr11:71132921-71132922	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs560203001	chr11:71132933-71132934	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs7933382	chr11:71132965-71132966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376131057	chr11:71133028-71133029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71049979	chr11:71133051-71133052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71464390	chr11:71133059-71133060	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142584030	chr11:71133067-71133068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372263527	chr11:71133085-71133086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371422574	chr11:71133091-71133092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11233608	chr11:71133093-71133094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374690562	chr11:71133095-71133096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374438507	chr11:71133096-71133097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367594860	chr11:71133098-71133099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368993407	chr11:71133104-71133105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113057054	chr11:71133115-71133116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12226865	chr11:71133121-71133122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371738975	chr11:71133126-71133127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12226866	chr11:71133127-71133128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12226867	chr11:71133129-71133130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369284233	chr11:71133131-71133132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185378533	chr11:71133133-71133134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201629616	chr11:71133154-71133155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200113304	chr11:71133155-71133156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201303472	chr11:71133156-71133157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71464391	chr11:71133158-71133159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10898117	chr11:71133217-71133218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs1790357	chr11:71133260-71133261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113367264	chr11:71133263-71133264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550411038	chr11:71133268-71133269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74423151	chr11:71133295-71133296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190700039	chr11:71133337-71133338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77800985	chr11:71133371-71133372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370856680	chr11:71133377-71133378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144698007	chr11:71133378-71133379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374628454	chr11:71133396-71133397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112310461	chr11:71133437-71133438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147912234	chr11:71133473-71133474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180764313	chr11:71133474-71133475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555630428	chr11:71133516-71133517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112986116	chr11:71133530-71133531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576044743	chr11:71133532-71133533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185429128	chr11:71133540-71133541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370012700	chr11:71133547-71133548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560241621	chr11:71133591-71133592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111504968	chr11:71133598-71133599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12573862	chr11:71133599-71133600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113666287	chr11:71133615-71133616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	21785460	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71123600-71139600	Weak transcription	Right Atrium	heart
2	chr11:71129200-71133600	Enhancers	Primary B cells from cord blood	blood
3	chr11:71129200-71134000	Enhancers	GM12878-XiMat	blood
4	chr11:71131400-71133000	Enhancers	Liver	Liver
5	chr11:71131800-71133800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:71132000-71134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:71132200-71133000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:71132600-71144000	Weak transcription	Spleen	Spleen
9	chr11:71132800-71134000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:71133600-71134000	Weak transcription	Primary B cells from cord blood	blood
11	chr11:71133800-71135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:71133800-71135400	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:71134000-71135000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:71134000-71135000	Flanking Active TSS	GM12878-XiMat	blood
15	chr11:71134000-71135200	Enhancers	Primary B cells from cord blood	blood
16	chr11:71134000-71135400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:71134000-71135400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:71134000-71135400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:71134000-71135400	Enhancers	HMEC	breast

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