Variant report

Variant	nsv554241
Chromosome Location	chr11:48645591-48765567
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	BATF	chr11:48741581-48741798	GM12878	blood:	n/a	n/a
2	BCL3	chr11:48649085-48649287	GM12878	blood:	n/a	n/a
3	CEBPB	chr11:48727879-48728005	K562	blood:	n/a	n/a
4	CEBPB	chr11:48727818-48727993	A549	lung:	n/a	n/a
5	CTCF	chr11:48646670-48646724	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr11:48661873-48661916	LNCaP	prostate:	n/a	n/a
7	CTCF	chr11:48708439-48708512	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:48646663-48646669	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr11:48670490-48670521	GM13976	blood:	n/a	n/a
10	CTCF	chr11:48664030-48664131	LNCaP	prostate:	n/a	n/a
11	CTCF	chr11:48652535-48652571	Lung_OC	lung:	n/a	n/a
12	CTCF	chr11:48751637-48751640	GM13976	blood:	n/a	n/a
13	CUX1	chr11:48763462-48763611	GM12878	blood:	n/a	n/a
14	E2F4	chr11:48666118-48666120	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr11:48684184-48684306	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F4	chr11:48717976-48718346	MCF10A-Er-Src	breast:	n/a	n/a
17	ELK1	chr11:48763456-48763597	GM12878	blood:	n/a	n/a
18	EP300	chr11:48763046-48763168	GM12878	blood:	n/a	n/a
19	FOS	chr11:48664143-48664280	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:48717977-48718346	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr11:48717977-48718345	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:48664082-48664335	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr11:48729816-48730016	HepG2	liver:	n/a	n/a
24	FOXA1	chr11:48663643-48663820	T-47D	breast:	n/a	n/a
25	FOXA1	chr11:48663596-48663895	T-47D	breast:	n/a	n/a
26	FOXA2	chr11:48729225-48729578	A549	lung:	n/a	n/a
27	FOXA2	chr11:48670945-48671360	A549	lung:	n/a	n/a
28	FOXA2	chr11:48751055-48751516	A549	lung:	n/a	n/a
29	FOXA2	chr11:48755841-48756173	A549	lung:	n/a	n/a
30	FOXP2	chr11:48729828-48730028	SK-N-MC	brain:	n/a	n/a
31	FOXP2	chr11:48718063-48718232	SK-N-MC	brain:	n/a	n/a
32	GABPA	chr11:48749000-48749115	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr11:48729857-48729953	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr11:48698182-48698315	Hela-S3	cervix:	n/a	n/a
35	GATA3	chr11:48726580-48726929	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr11:48663543-48663871	T-47D	breast:	n/a	n/a
37	GATA3	chr11:48717977-48718346	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr11:48733394-48733752	SH-SY5Y	brain:	n/a	n/a
39	IRF3	chr11:48726750-48726774	GM12878	blood:	n/a	n/a
40	MAFF	chr11:48697563-48697823	K562	blood:	n/a	chr11:48697691-48697709
41	MAFF	chr11:48690789-48691037	K562	blood:	n/a	chr11:48690893-48690911
42	MAFF	chr11:48688452-48688549	K562	blood:	n/a	n/a
43	MAFF	chr11:48690748-48691056	HepG2	liver:	n/a	chr11:48690893-48690911
44	MAFF	chr11:48688085-48688319	HepG2	liver:	n/a	n/a
45	MAFF	chr11:48697564-48697846	HepG2	liver:	n/a	chr11:48697691-48697709
46	MAFK	chr11:48697588-48697826	Hela-S3	cervix:	n/a	chr11:48697692-48697707
47	MAFK	chr11:48688123-48688550	HepG2	liver:	n/a	n/a
48	MAFK	chr11:48685916-48686184	HepG2	liver:	n/a	n/a
49	MAFK	chr11:48690771-48691032	IMR90	lung:	n/a	chr11:48690894-48690909
50	MAFK	chr11:48715580-48715686	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
OR4A44P	TF binding region

Extended variants
information (count: 2765 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2765 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139370329	chr11:48646673-48646674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370694970	chr11:48646704-48646705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs536227475	chr11:48646711-48646712	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs573976490	chr11:48647795-48647796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201472181	chr11:48647804-48647805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186411569	chr11:48647849-48647850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs560260734	chr11:48647884-48647885	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs190699696	chr11:48647893-48647894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs57435556	chr11:48647914-48647915	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569004404	chr11:48647919-48647920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs148021274	chr11:48647921-48647922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189570504	chr11:48648981-48648982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527820460	chr11:48649056-48649057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577797940	chr11:48670615-48670616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557350552	chr11:48670619-48670620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536747984	chr11:48670640-48670641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571246364	chr11:48670666-48670667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557136585	chr11:48670683-48670684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190236487	chr11:48670699-48670700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557056016	chr11:48670702-48670703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372113669	chr11:48670709-48670710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182420989	chr11:48670711-48670712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368375170	chr11:48670712-48670713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7294034	chr11:48670721-48670722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573629829	chr11:48670733-48670734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs111312714	chr11:48670747-48670748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs573189715	chr11:48670748-48670749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs11530233	chr11:48670773-48670774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375510197	chr11:48670774-48670775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185135686	chr11:48670806-48670807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188478608	chr11:48670811-48670812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543543673	chr11:48670812-48670813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563853432	chr11:48670813-48670814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529421740	chr11:48670816-48670817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549177375	chr11:48670820-48670821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181251780	chr11:48670823-48670824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs3920149	chr11:48670824-48670825	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547208554	chr11:48670848-48670849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551689785	chr11:48670887-48670888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185838688	chr11:48670897-48670898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545710379	chr11:48670909-48670910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537094805	chr11:48670914-48670915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs148910181	chr11:48670951-48670952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115601287	chr11:48670965-48670966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs565333049	chr11:48670995-48670996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77739722	chr11:48671025-48671026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs143542987	chr11:48671065-48671066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553226371	chr11:48671080-48671081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs191755370	chr11:48671102-48671103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs538919599	chr11:48671111-48671112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48670600-48672800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:48671600-48672200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:48671600-48674000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr11:48679800-48680400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr11:48680200-48688400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:48681200-48684000	ZNF genes & repeats	Liver	Liver
7	chr11:48685000-48686400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:48686800-48688000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:48688200-48691800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr11:48694000-48695400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:48694200-48695800	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr11:48695400-48695800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:48696800-48698200	ZNF genes & repeats	Liver	Liver
14	chr11:48697200-48699000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr11:48698200-48698800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:48704600-48705400	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr11:48711000-48712200	ZNF genes & repeats	Liver	Liver
18	chr11:48717600-48718400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr11:48718000-48718200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr11:48718000-48718200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:48718000-48718200	ZNF genes & repeats	HUVEC	blood vessel
22	chr11:48718000-48718200	ZNF genes & repeats	NH-A	brain
23	chr11:48718000-48718400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr11:48718000-48718400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr11:48718000-48718600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr11:48718000-48719000	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr11:48718200-48718400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr11:48728000-48728800	ZNF genes & repeats	Liver	Liver
29	chr11:48728400-48728800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr11:48731000-48732600	ZNF genes & repeats	Liver	Liver
31	chr11:48731400-48733000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr11:48731400-48735600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:48732600-48733400	Weak transcription	Liver	Liver
34	chr11:48733200-48734600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr11:48733200-48735800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
36	chr11:48733400-48734200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr11:48733400-48734200	ZNF genes & repeats	Liver	Liver
38	chr11:48733400-48734400	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr11:48733800-48734200	Active TSS	Right Atrium	heart
40	chr11:48734200-48738400	Weak transcription	Right Atrium	heart
41	chr11:48736600-48742600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:48738000-48739600	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr11:48738400-48739200	Active TSS	Right Atrium	heart
44	chr11:48738800-48742000	ZNF genes & repeats	Liver	Liver
45	chr11:48741200-48742400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:48743800-48744600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr11:48744200-48744800	ZNF genes & repeats	Liver	Liver
48	chr11:48750800-48751400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr11:48762000-48763800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr11:48762600-48764200	ZNF genes & repeats	Liver	Liver

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