Variant report

Variant	esv3345939
Chromosome Location	chr11:71119404-71123802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:71121445-71121846	K562	blood:	n/a	n/a
2	BRCA1	chr11:71121368-71121550	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:71121577-71121717	HepG2	liver:	n/a	n/a
4	CEBPB	chr11:71121493-71121718	A549	lung:	n/a	n/a
5	CREB1	chr11:71121296-71121778	K562	blood:	n/a	n/a
6	CREB1	chr11:71121322-71121784	HepG2	liver:	n/a	n/a
7	CREB1	chr11:71121367-71121872	GM12878	blood:	n/a	n/a
8	CTCF	chr11:71122685-71122743	GM20000	blood:	n/a	n/a
9	CTCF	chr11:71123280-71123430	GM12865	blood:	n/a	n/a
10	GATA3	chr11:71121546-71121978	SH-SY5Y	brain:	n/a	n/a
11	JUN	chr11:71121428-71121943	HepG2	liver:	n/a	chr11:71121622-71121635
12	JUND	chr11:71121359-71121960	HepG2	liver:	n/a	n/a
13	JUND	chr11:71121633-71121640	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAFF	chr11:71121359-71121669	HepG2	liver:	n/a	n/a
15	MAFF	chr11:71120194-71120413	HepG2	liver:	n/a	n/a
16	MAFK	chr11:71120166-71120432	HepG2	liver:	n/a	chr11:71120308-71120323
17	MAFK	chr11:71120168-71120390	HepG2	liver:	n/a	chr11:71120308-71120323
18	MAFK	chr11:71121387-71121719	HepG2	liver:	n/a	n/a
19	MAFK	chr11:71121454-71121625	HepG2	liver:	n/a	n/a
20	NFE2	chr11:71123646-71123655	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:71121199-71122087	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:71121277-71122028	H1-neurons	neurons:	n/a	n/a
23	SUZ12	chr11:71121398-71121841	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:71118859..71120385-chr11:71125434..71128124,2	MCF-7	breast:
2	chr11:71113585..71115621-chr11:71119782..71121639,2	K562	blood:
3	chr11:71122603..71125509-chr11:71135103..71137138,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172900	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186345813	chr11:71119831-71119832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374768428	chr11:71119832-71119833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570614382	chr11:71119862-71119863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571764844	chr11:71119876-71119877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75773448	chr11:71119879-71119880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534839651	chr11:71119886-71119887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542587710	chr11:71119891-71119892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568933342	chr11:71119922-71119923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142987755	chr11:71119927-71119928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146087923	chr11:71119932-71119933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148316858	chr11:71119990-71119991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141478931	chr11:71119991-71119992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117991852	chr11:71120029-71120030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189647582	chr11:71120034-71120035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544347077	chr11:71120042-71120043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57710575	chr11:71120070-71120071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115710156	chr11:71120072-71120073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1790364	chr11:71120095-71120096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561289466	chr11:71120104-71120105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528461011	chr11:71120116-71120117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79947172	chr11:71120117-71120118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565528677	chr11:71120130-71120131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532645352	chr11:71120202-71120203	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs4944044	chr11:71120213-71120214	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs59751086	chr11:71120235-71120236	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs375539030	chr11:71120262-71120263	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529716377	chr11:71120267-71120268	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557693708	chr11:71120270-71120271	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs1792248	chr11:71120287-71120288	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1792249	chr11:71120298-71120299	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564567008	chr11:71120333-71120334	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs150811544	chr11:71120464-71120465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549942902	chr11:71120479-71120480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181704174	chr11:71120487-71120488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139257513	chr11:71120504-71120505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528670856	chr11:71120505-71120506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144504553	chr11:71120537-71120538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77423560	chr11:71120538-71120539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147443140	chr11:71120539-71120540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555061007	chr11:71120546-71120547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75283013	chr11:71120565-71120566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115549835	chr11:71120581-71120582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139641855	chr11:71120632-71120633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77731984	chr11:71120652-71120653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540797018	chr11:71120672-71120673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145263954	chr11:71120734-71120735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544510730	chr11:71120737-71120738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145008867	chr11:71120738-71120739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562762168	chr11:71120759-71120760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186895004	chr11:71120760-71120761	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71119800-71120400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr11:71120000-71120400	Enhancers	Brain Substantia Nigra	brain
3	chr11:71120000-71120600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:71120000-71120800	Enhancers	Brain Hippocampus Middle	brain
5	chr11:71121000-71121400	Weak transcription	Fetal Kidney	kidney
6	chr11:71121400-71121800	ZNF genes & repeats	Fetal Kidney	kidney
7	chr11:71123600-71139600	Weak transcription	Right Atrium	heart

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