Variant report

Variant	nsv553896
Chromosome Location	chr11:25916225-25957544
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	ATF1	chr11:25956447-25956549	K562	blood:	n/a	n/a
2	CEBPB	chr11:25955107-25955264	HepG2	liver:	n/a	chr11:25955243-25955256
3	CTCF	chr11:25951280-25951430	NHLF	lung:	n/a	n/a
4	CTCF	chr11:25957140-25957290	RPTEC	kidney:	n/a	chr11:25957269-25957290
5	CTCF	chr11:25957120-25957270	RPTEC	kidney:	n/a	n/a
6	CTCF	chr11:25943233-25943274	Spleen_OC	spleen:	n/a	n/a
7	E2F4	chr11:25945977-25946043	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr11:25957044-25957220	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr11:25949628-25949974	Hela-S3	cervix:	n/a	n/a
10	FOS	chr11:25931674-25931989	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:25931739-25931977	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:25931695-25931983	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:25931699-25931994	MCF10A-Er-Src	breast:	n/a	n/a
14	IRF1	chr11:25937580-25937708	K562	blood:	n/a	n/a
15	JUN	chr11:25922373-25922729	HepG2	liver:	n/a	chr11:25922546-25922559
16	JUND	chr11:25922363-25922738	HepG2	liver:	n/a	n/a
17	KAP1	chr11:25953861-25954195	HEK293	kidney:	n/a	n/a
18	MAFK	chr11:25919241-25919257	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr11:25920917-25920982	HepG2	liver:	n/a	chr11:25920945-25920962
20	MAFK	chr11:25920791-25921060	HepG2	liver:	n/a	chr11:25920945-25920962
21	MAZ	chr11:25923846-25923990	HepG2	liver:	n/a	n/a
22	MYC	chr11:25944854-25944918	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:25924564-25924695	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:25947436-25947527	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:25946142-25946161	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:25924110-25924200	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:25956353-25956450	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:25923230-25923353	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr11:25949838-25949983	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:25946808-25946829	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:25939390-25939495	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:25928227-25928404	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:25922386-25922432	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:25918164-25918436	MCF10A-Er-Src	breast:	n/a	n/a
35	RAD21	chr11:25932657-25932820	A549	lung:	n/a	n/a
36	RFX5	chr11:25955240-25955346	K562	blood:	n/a	n/a
37	RFX5	chr11:25933812-25933906	Hela-S3	cervix:	n/a	n/a
38	SETDB1	chr11:25953738-25954180	U2OS	brain:	n/a	n/a
39	STAT3	chr11:25941336-25941500	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr11:25927827-25927831	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr11:25956014-25956163	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr11:25934991-25935019	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr11:25931719-25931908	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr11:25938175-25938375	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr11:25922390-25922502	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr11:25947966-25948058	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:25936319-25936392	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr11:25931648-25931972	MCF10A-Er-Src	breast:	n/a	n/a
49	TCF7L2	chr11:25949689-25949899	HepG2	liver:	n/a	n/a
50	ZNF143	chr11:25953901-25954217	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANO3-2	chr11:25947826-25948596	NONHSAT018453
2	lnc-ANO3-2	chr11:25948153-25948355	ENSG00000254754
3	lnc-ANO3-2	chr11:25945735-25945879	ENSG00000254754
4	lnc-ANO3-2	chr11:25945687-25946841	NONHSAT018453

Variant related genes	Relation type
ENSG00000254754	TF binding region

Extended variants
information (count: 704 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12223678	chr11:25916225-25916226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12223680	chr11:25916244-25916245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146977943	chr11:25916276-25916277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7952716	chr11:25916294-25916295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531545481	chr11:25916300-25916301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113714574	chr11:25916309-25916310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549644944	chr11:25916330-25916331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377215381	chr11:25916347-25916348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571355444	chr11:25916349-25916350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190492040	chr11:25916369-25916370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11029003	chr11:25916396-25916397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35090912	chr11:25916404-25916405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182315166	chr11:25916454-25916455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7937836	chr11:25916475-25916476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs533925452	chr11:25916485-25916486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371800171	chr11:25916493-25916494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77596789	chr11:25916497-25916498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75690378	chr11:25916556-25916557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559288309	chr11:25916557-25916558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577750759	chr11:25916595-25916596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79170871	chr11:25916601-25916602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74563975	chr11:25916610-25916611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77474905	chr11:25916673-25916674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138227474	chr11:25916691-25916692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567873905	chr11:25916707-25916708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570463031	chr11:25916721-25916722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537799284	chr11:25916726-25916727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535310778	chr11:25916731-25916732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1441511	chr11:25916737-25916738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143721813	chr11:25916757-25916758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35084032	chr11:25916770-25916771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144428855	chr11:25918603-25918604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558226246	chr11:25918617-25918618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552309152	chr11:25918628-25918629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570526408	chr11:25918722-25918723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61885266	chr11:25918749-25918750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182567383	chr11:25918781-25918782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187171160	chr11:25918788-25918789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11029008	chr11:25918794-25918795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11029009	chr11:25918836-25918837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79730858	chr11:25918879-25918880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571805753	chr11:25918893-25918894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539320547	chr11:25918900-25918901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74520660	chr11:25918901-25918902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191673700	chr11:25918917-25918918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10834839	chr11:25920831-25920832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546830671	chr11:25920857-25920858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12806164	chr11:25920858-25920859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150169305	chr11:25920869-25920870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12574733	chr11:25920888-25920889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:54)

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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25916200-25916600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:25916400-25916800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:25918600-25919000	Enhancers	Fetal Kidney	kidney
4	chr11:25920800-25921600	Enhancers	Hela-S3	cervix
5	chr11:25924400-25924800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:25930200-25932000	Enhancers	Fetal Lung	lung
7	chr11:25931800-25932200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:25932000-25933800	Weak transcription	Fetal Lung	lung
9	chr11:25948000-25949200	Enhancers	Fetal Stomach	stomach
10	chr11:25948200-25948600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:25948200-25950400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:25948400-25949200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:25948400-25949800	Enhancers	Colon Smooth Muscle	Colon
14	chr11:25948400-25950400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:25948400-25951000	Enhancers	Fetal Lung	lung
16	chr11:25948600-25949000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:25948600-25949400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:25948600-25949400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:25948600-25949800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:25949000-25949400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr11:25949000-25949600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:25949200-25949400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:25949200-25949800	Enhancers	Fetal Kidney	kidney
24	chr11:25949200-25950200	Weak transcription	Fetal Stomach	stomach
25	chr11:25949400-25949600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr11:25949400-25951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:25949600-25951200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:25950400-25950600	Enhancers	Fetal Stomach	stomach
29	chr11:25950800-25955000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:25951000-25959000	Weak transcription	Fetal Lung	lung
31	chr11:25951200-25951800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:25951400-25951800	Enhancers	Fetal Muscle Leg	muscle
33	chr11:25951600-25952000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:25955200-25955400	Enhancers	Pancreatic Islets	Pancreatic Islet

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