Variant report

Variant	nsv511476
Chromosome Location	chr11:46161054-46169659
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:244)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:46163144-46163395	GM12878	blood:	n/a	n/a
2	BATF	chr11:46163214-46163478	GM12878	blood:	n/a	n/a
3	BATF	chr11:46163206-46163510	GM12878	blood:	n/a	n/a
4	BCL11A	chr11:46163165-46163442	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:46163346-46163520	GM12878	blood:	n/a	n/a
6	CEBPB	chr11:46165622-46165866	HepG2	liver:	n/a	chr11:46165793-46165804
7	CEBPB	chr11:46165781-46165805	IMR90	lung:	n/a	chr11:46165793-46165804
8	CTCF	chr11:46166500-46166650	Hela-S3	cervix:	n/a	chr11:46166518-46166531
9	CTCF	chr11:46164820-46164970	HepG2	liver:	n/a	n/a
10	CTCF	chr11:46166469-46166573	GM19239	blood:	n/a	chr11:46166518-46166531
11	CTCF	chr11:46166455-46166569	GM12878	blood:	n/a	chr11:46166518-46166531
12	CTCF	chr11:46166500-46166560	H1-hESC	embryonic stem cell:	n/a	chr11:46166518-46166531
13	CTCF	chr11:46164849-46164860	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:46166453-46166598	Gliobla	brain:	n/a	chr11:46166518-46166531
15	CTCF	chr11:46166473-46166536	MCF-7	breast:	n/a	chr11:46166518-46166531
16	CTCF	chr11:46164862-46164914	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr11:46166460-46166610	HPF	lung:	n/a	chr11:46166518-46166531
18	CTCF	chr11:46166512-46166545	GM19240	blood:	n/a	chr11:46166518-46166531
19	CTCF	chr11:46166494-46166558	GM12892	blood:	n/a	chr11:46166518-46166531
20	CTCF	chr11:46164854-46164915	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:46166440-46166590	HepG2	liver:	n/a	chr11:46166518-46166531
22	CTCF	chr11:46166474-46166525	Fibrobl	skin:	n/a	n/a
23	IRF4	chr11:46163231-46163541	GM12878	blood:	n/a	n/a
24	JUN	chr11:46168317-46168460	H1-hESC	embryonic stem cell:	n/a	n/a
25	MEF2A	chr11:46163162-46163522	GM12878	blood:	n/a	n/a
26	MYC	chr11:46166465-46166538	MCF-7	breast:	n/a	n/a
27	MYC	chr11:46166453-46166565	MCF-7	breast:	n/a	n/a
28	MYC	chr11:46166443-46166450	MCF-7	breast:	n/a	n/a
29	MYC	chr11:46166576-46166580	MCF-7	breast:	n/a	n/a
30	MYC	chr11:46164701-46164765	MCF-7	breast:	n/a	n/a
31	MYC	chr11:46164697-46164747	MCF-7	breast:	n/a	n/a
32	NFIC	chr11:46163132-46163564	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:46164747-46164753	MCF-7	breast:	n/a	n/a
34	POLR2A	chr11:46166331-46166575	MCF-7	breast:	n/a	n/a
35	POLR2A	chr11:46165077-46165276	Gliobla	brain:	n/a	n/a
36	POLR2A	chr11:46164775-46164800	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:46164725-46164727	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:46164812-46164817	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:46164583-46164599	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:46164625-46164646	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:46166370-46166635	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:46165112-46165214	MCF-7	breast:	n/a	n/a
43	POLR2A	chr11:46163418-46163665	MCF-7	breast:	n/a	n/a
44	RFX5	chr11:46161352-46161536	HepG2	liver:	n/a	n/a
45	RUNX3	chr11:46163228-46163488	GM12878	blood:	n/a	n/a
46	RUNX3	chr11:46163141-46163582	GM12878	blood:	n/a	n/a
47	STAT3	chr11:46168183-46168383	MCF10A-Er-Src	breast:	n/a	n/a
48	TBP	chr11:46164927-46164928	H1-hESC	embryonic stem cell:	n/a	n/a
49	ZNF143	chr11:46166485-46166531	H1-hESC	embryonic stem cell:	n/a	chr11:46166491-46166506

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46164652-46164702	AG04449	skin:	fetal
2	chr11:46166409-46166459	AG09319	gingival:	n/a
3	chr11:46164796-46164846	NB4	blood:	n/a
4	chr11:46164774-46164824	HRCEpiC	kidney:	n/a
5	chr11:46164774-46164824	SK-N-MC	brain:	n/a
6	chr11:46166409-46166459	A549	lung:	n/a
7	chr11:46166409-46166459	PrEC	prostate:	n/a
8	chr11:46164774-46164824	Caco-2	colon:	n/a
9	chr11:46164774-46164824	SAEC	small airway:	n/a
10	chr11:46164796-46164846	HUVEC	blood vessel:	n/a
11	chr11:46164652-46164702	HNPCEpiC	eye:	n/a
12	chr11:46164652-46164702	SK-N-SH_RA	brain:	n/a
13	chr11:46164796-46164846	AG09319	gingival:	n/a
14	chr11:46164796-46164846	Hepatocyte	liver:	n/a
15	chr11:46164796-46164846	K562	blood:	n/a
16	chr11:46166409-46166459	GM12878	blood:	n/a
17	chr11:46164652-46164702	MCF10A-Er-Src	breast:	n/a
18	chr11:46164796-46164846	RPTEC	kidney:	n/a
19	chr11:46164796-46164846	GM12892	blood:	n/a
20	chr11:46164796-46164846	Hela-S3	cervix:	n/a
21	chr11:46164774-46164824	NT2-D1	testis:	n/a
22	chr11:46164796-46164846	HRE	kidney:	n/a
23	chr11:46164796-46164846	HEK293	kidney:	embryo
24	chr11:46164774-46164824	PFSK-1	brain:	n/a
25	chr11:46164796-46164846	HL-60	blood:	n/a
26	chr11:46166409-46166459	U87	brain:	n/a
27	chr11:46164774-46164824	IMR90	lung:	fetal
28	chr11:46166409-46166459	SKMC	muscle:	n/a
29	chr11:46164774-46164824	BE2_C	brain:	n/a
30	chr11:46166409-46166459	HNPCEpiC	eye:	n/a
31	chr11:46164652-46164702	Hela-S3	cervix:	n/a
32	chr11:46164796-46164846	HNPCEpiC	eye:	n/a
33	chr11:46164774-46164824	SK-N-SH_RA	brain:	n/a
34	chr11:46164774-46164824	ProgFib	skin:	n/a
35	chr11:46164796-46164846	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:46164796-46164846	HAEpiC	amniotic membrane:	n/a
37	chr11:46164652-46164702	BE2_C	brain:	n/a
38	chr11:46166409-46166459	HRE	kidney:	n/a
39	chr11:46164774-46164824	NB4	blood:	n/a
40	chr11:46164652-46164702	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:46166409-46166459	GM12891	blood:	n/a
42	chr11:46164652-46164702	AG09309	skin:	n/a
43	chr11:46166409-46166459	NHBE	bronchial:	n/a
44	chr11:46166409-46166459	CMK	blood:	n/a
45	chr11:46166409-46166459	HCM	heart:	n/a
46	chr11:46164774-46164824	HMEC	breast:	n/a
47	chr11:46164796-46164846	BJ	skin:	n/a
48	chr11:46166409-46166459	MCF-7	breast:	n/a
49	chr11:46166409-46166459	GM06990	blood:	n/a
50	chr11:46164774-46164824	AG04449	skin:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46147849..46150697-chr11:46169653..46172751,3	MCF-7	breast:
2	chr11:46161878..46163896-chr11:46165531..46168198,2	K562	blood:
3	chr11:46159444..46162124-chr11:46222416..46223935,2	K562	blood:
4	chr11:46156833..46159429-chr11:46159952..46162455,2	K562	blood:
5	chr11:46161878..46163896-chr11:46165531..46168198,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254871	TF binding region
ENSG00000254871	CpG island

Extended variants
information (count: 255 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576883304	chr11:46161366-46161367	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs192396983	chr11:46161388-46161389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113717698	chr11:46161390-46161391	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561123566	chr11:46161391-46161392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561068220	chr11:46161394-46161395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs147165468	chr11:46161403-46161404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs546598521	chr11:46161408-46161409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs138504164	chr11:46161417-46161418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs532934756	chr11:46161485-46161486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183658080	chr11:46161511-46161512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563153183	chr11:46163135-46163136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs572575040	chr11:46163140-46163141	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184892721	chr11:46163184-46163185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562744174	chr11:46163206-46163207	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548788847	chr11:46163241-46163242	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568701707	chr11:46163255-46163256	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs529790927	chr11:46163256-46163257	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs546645119	chr11:46163301-46163302	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566458487	chr11:46163435-46163436	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541304676	chr11:46163438-46163439	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs558271402	chr11:46163457-46163458	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568807034	chr11:46163487-46163488	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537783878	chr11:46163488-46163489	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs191075817	chr11:46163508-46163509	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574265566	chr11:46163521-46163522	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs11038777	chr11:46163538-46163539	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554200759	chr11:46163560-46163561	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs55860723	chr11:46163572-46163573	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183212653	chr11:46163598-46163599	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs116651031	chr11:46163615-46163616	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs562908425	chr11:46163623-46163624	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs186011589	chr11:46163624-46163625	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191498590	chr11:46163645-46163646	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs562387615	chr11:46163655-46163656	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs527850415	chr11:46163690-46163691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144341216	chr11:46163712-46163713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533149615	chr11:46163736-46163737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35094884	chr11:46163743-46163744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549813035	chr11:46163749-46163750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563537512	chr11:46163795-46163796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537470998	chr11:46164027-46164028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112098252	chr11:46164050-46164051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568025700	chr11:46164067-46164068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188032926	chr11:46164081-46164082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531698954	chr11:46164132-46164133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377092238	chr11:46164133-46164134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7924340	chr11:46164157-46164158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35313668	chr11:46164158-46164159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539580670	chr11:46164166-46164167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539637876	chr11:46164182-46164183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46163200-46163800	Enhancers	GM12878-XiMat	blood
2	chr11:46164000-46164400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:46164200-46164400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:46164400-46164600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:46164400-46164600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:46164400-46164600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:46164400-46164800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:46164600-46165400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:46164600-46170800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:46164800-46170800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:46165400-46170400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:46166400-46166600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:46166400-46166600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:46166400-46166600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:46166400-46166600	Enhancers	A549	lung
16	chr11:46166400-46167000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:46169000-46169200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:46169200-46171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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