Variant report

Variant	esv1849593
Chromosome Location	chr11:51347668-51483139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:51365084-51365098	K562	blood:	n/a	n/a
2	CEBPB	chr11:51462374-51462420	HepG2	liver:	n/a	chr11:51462402-51462413 chr11:51462402-51462411 chr11:51462402-51462411 chr11:51462400-51462411 chr11:51462402-51462411 chr11:51462402-51462411
3	CEBPB	chr11:51402232-51402435	IMR90	lung:	n/a	n/a
4	CEBPB	chr11:51402176-51402431	A549	lung:	n/a	n/a
5	CEBPB	chr11:51472743-51472929	A549	lung:	n/a	n/a
6	CHD2	chr11:51365084-51365111	K562	blood:	n/a	n/a
7	CTCF	chr11:51425405-51425449	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr11:51412215-51412230	GM13976	blood:	n/a	n/a
9	CTCF	chr11:51415163-51415223	LNCaP	prostate:	n/a	n/a
10	CTCF	chr11:51477614-51477680	GM20000	blood:	n/a	n/a
11	CTCF	chr11:51454243-51454342	GM20000	blood:	n/a	n/a
12	CTCF	chr11:51405020-51405170	HEK293	kidney:	n/a	n/a
13	CTCF	chr11:51418602-51418695	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr11:51407006-51407062	GM10248	blood:	n/a	n/a
15	CTCF	chr11:51480084-51480138	GM10248	blood:	n/a	n/a
16	CTCF	chr11:51467472-51467564	GM10248	blood:	n/a	n/a
17	CTCF	chr11:51477102-51477177	Lung_OC	lung:	n/a	n/a
18	CTCF	chr11:51444498-51444564	GM13976	blood:	n/a	n/a
19	CTCF	chr11:51464996-51465053	GM13977	blood:	n/a	n/a
20	CTCF	chr11:51442196-51442231	LNCaP	prostate:	n/a	n/a
21	CTCF	chr11:51473887-51473979	LNCaP	prostate:	n/a	n/a
22	CTCF	chr11:51451910-51451957	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr11:51401114-51401184	GM13976	blood:	n/a	n/a
24	CTCF	chr11:51412634-51412675	GM13976	blood:	n/a	n/a
25	CTCF	chr11:51416253-51416312	GM13976	blood:	n/a	n/a
26	CTCF	chr11:51426649-51426735	GM13976	blood:	n/a	n/a
27	CTCF	chr11:51470921-51471000	Lung_OC	lung:	n/a	n/a
28	CTCF	chr11:51469439-51469482	LNCaP	prostate:	n/a	n/a
29	CTCF	chr11:51477856-51477879	GM20000	blood:	n/a	n/a
30	CTCF	chr11:51459728-51459754	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr11:51356996-51357098	GM20000	blood:	n/a	n/a
32	CTCF	chr11:51417744-51417793	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:51378106-51378166	GM10266	blood:	n/a	n/a
34	CTCF	chr11:51473384-51473442	GM13976	blood:	n/a	n/a
35	CTCF	chr11:51477834-51477851	GM20000	blood:	n/a	n/a
36	CTCF	chr11:51477641-51477694	Medullo	brain:	n/a	n/a
37	FOS	chr11:51451338-51451363	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:51364804-51364922	MCF10A-Er-Src	breast:	n/a	n/a
39	GATA2	chr11:51398907-51399153	K562	blood:	n/a	n/a
40	JUN	chr11:51377961-51377999	HepG2	liver:	n/a	chr11:51377976-51377989
41	JUND	chr11:51377963-51378006	HepG2	liver:	n/a	n/a
42	KAP1	chr11:51364557-51364788	K562	blood:	n/a	n/a
43	MAFF	chr11:51427959-51428122	K562	blood:	n/a	n/a
44	MAFK	chr11:51427958-51428110	IMR90	lung:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
45	MAFK	chr11:51427934-51428149	HepG2	liver:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
46	MYC	chr11:51379474-51379531	GM12878	blood:	n/a	n/a
47	MYC	chr11:51389489-51389537	K562	blood:	n/a	n/a
48	POLR2A	chr11:51424802-51425180	K562	blood:	n/a	n/a
49	POLR2A	chr11:51457636-51457709	Gliobla	brain:	n/a	n/a
50	POLR2A	chr11:51459256-51459326	ProgFib	skin:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:51411541-51411591	HepG2	liver:	n/a
2	chr11:51411541-51411591	PANC-1	pancreas:	n/a
3	chr11:51411541-51411591	HCM	heart:	n/a
4	chr11:51411541-51411591	NHDF-neo	bronchial:	n/a
5	chr11:51413644-51413694	PFSK-1	brain:	n/a
6	chr11:51411541-51411591	HMEC	breast:	n/a
7	chr11:51413644-51413694	AG04449	skin:	fetal
8	chr11:51413644-51413694	U87	brain:	n/a
9	chr11:51411541-51411591	AG04450	lung:	fetal
10	chr11:51413644-51413694	Hela-S3	cervix:	n/a
11	chr11:51411541-51411591	AG04449	skin:	fetal
12	chr11:51411541-51411591	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:51411541-51411591	RPTEC	kidney:	n/a
14	chr11:51413644-51413694	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:51411541-51411591	HRPEpiC	eye:	n/a
16	chr11:51413644-51413694	BJ	skin:	n/a
17	chr11:51413644-51413694	RPTEC	kidney:	n/a
18	chr11:51411541-51411591	PrEC	prostate:	n/a
19	chr11:51413644-51413694	BE2_C	brain:	n/a
20	chr11:51413644-51413694	HCM	heart:	n/a
21	chr11:51413644-51413694	HRE	kidney:	n/a
22	chr11:51413644-51413694	AG09309	skin:	n/a
23	chr11:51413644-51413694	GM19239	blood:	n/a
24	chr11:51411541-51411591	GM12892	blood:	n/a
25	chr11:51413644-51413694	Jurkat	blood:	n/a
26	chr11:51413644-51413694	GM06990	blood:	n/a
27	chr11:51411541-51411591	HAEpiC	amniotic membrane:	n/a
28	chr11:51413644-51413694	IMR90	lung:	fetal
29	chr11:51411541-51411591	HRCEpiC	kidney:	n/a
30	chr11:51411541-51411591	PFSK-1	brain:	n/a
31	chr11:51413644-51413694	AG10803	skin:	n/a
32	chr11:51411541-51411591	ovcar-3	ovarian:	n/a
33	chr11:51413644-51413694	A549	lung:	n/a
34	chr11:51411541-51411591	NT2-D1	testis:	n/a
35	chr11:51413644-51413694	PANC-1	pancreas:	n/a
36	chr11:51413644-51413694	GM12878	blood:	n/a
37	chr11:51411541-51411591	HCPEpiC	choroid plexus:	n/a
38	chr11:51411541-51411591	HL-60	blood:	n/a
39	chr11:51411541-51411591	MCF-7	breast:	n/a
40	chr11:51413644-51413694	HIPEpiC	eye:	n/a
41	chr11:51411541-51411591	HUVEC	blood vessel:	n/a
42	chr11:51411541-51411591	GM12891	blood:	n/a
43	chr11:51411541-51411591	K562	blood:	n/a
44	chr11:51411541-51411591	AG10803	skin:	n/a
45	chr11:51413644-51413694	SK-N-SH_RA	brain:	n/a
46	chr11:51411541-51411591	IMR90	lung:	fetal
47	chr11:51413644-51413694	K562	blood:	n/a
48	chr11:51413644-51413694	HRPEpiC	eye:	n/a
49	chr11:51411541-51411591	HEEpiC	esophagus:	n/a
50	chr11:51413644-51413694	H1-hESC	embryonic stem cell:	embryo

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR4C46-1	chr11:51461564-51462160	NONHSAT021349
2	lnc-OR4A5-2	chr11:51455830-51456700	NONHSAT021348

No data

Variant related genes	Relation type
OR4A3P	TF binding region
OR4A8P	TF binding region
OR4A7P	TF binding region
OR4C7P	TF binding region
OR4R2P	TF binding region
OR4A5	TF binding region
OR4A6P	TF binding region
OR4A2P	TF binding region
OR4A4P	TF binding region
OR4A3P	CpG island
OR4A8P	CpG island
OR4A7P	CpG island
OR4C7P	CpG island
OR4R2P	CpG island
OR4A5	CpG island
OR4A6P	CpG island
OR4A2P	CpG island
OR4A4P	CpG island

Extended variants
information (count: 1781 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1781 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79570227	chr11:51355806-51355807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs144866608	chr11:51355833-51355834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs61109044	chr11:51355834-51355835	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550136628	chr11:51355856-51355857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs185768398	chr11:51355875-51355876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189845310	chr11:51355879-51355880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181969765	chr11:51355894-51355895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs566182772	chr11:51355898-51355899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2088521	chr11:51355904-51355905	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555123944	chr11:51355921-51355922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140341045	chr11:51355924-51355925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537339902	chr11:51355928-51355929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558870278	chr11:51355935-51355936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551120356	chr11:51355970-51355971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186154185	chr11:51355994-51355995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544618849	chr11:51356041-51356042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs189819972	chr11:51356051-51356052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs143527170	chr11:51356064-51356065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572083547	chr11:51356077-51356078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs115211852	chr11:51356121-51356122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556795996	chr11:51356138-51356139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112509860	chr11:51356166-51356167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148010633	chr11:51356205-51356206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113825334	chr11:51356232-51356233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550057046	chr11:51356253-51356254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557471721	chr11:51356277-51356278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs61917112	chr11:51356287-51356288	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536168407	chr11:51356302-51356303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs181390967	chr11:51356313-51356314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530196512	chr11:51356319-51356320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548435223	chr11:51356320-51356321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150094774	chr11:51356328-51356329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113008398	chr11:51356357-51356358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs61917113	chr11:51356386-51356387	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2133211	chr11:51356403-51356404	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535012375	chr11:51356425-51356426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553711044	chr11:51356441-51356442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs147325005	chr11:51356454-51356455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542701496	chr11:51356492-51356493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185237079	chr11:51356533-51356534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541070501	chr11:51356577-51356578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs564017929	chr11:51356599-51356600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs189943145	chr11:51356601-51356602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183268751	chr11:51356627-51356628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112802382	chr11:51356637-51356638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs1827003	chr11:51356680-51356681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs191395823	chr11:51356725-51356726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs386753575	chr11:51356751-51356752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs61917114	chr11:51356752-51356753	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530087608	chr11:51356760-51356761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Mortal	21835882	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51355800-51359800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:51361600-51362400	ZNF genes & repeats	Liver	Liver
3	chr11:51364000-51368800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:51364400-51367000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:51366600-51367600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr11:51366600-51368400	ZNF genes & repeats	Liver	Liver
7	chr11:51369600-51370800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:51371200-51372000	ZNF genes & repeats	Liver	Liver
9	chr11:51398200-51400000	Enhancers	Dnd41	blood
10	chr11:51424200-51424600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr11:51453800-51458800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:51458800-51459200	Active TSS	Brain Substantia Nigra	brain
13	chr11:51458800-51459200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr11:51459200-51461200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:51475200-51476000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:51477200-51477800	ZNF genes & repeats	Adipose Nuclei	Adipose

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