Variant report

Variant	nsv897586
Chromosome Location	chr11:51314773-51456554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 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	chr11:51402232-51402435	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:51402176-51402431	A549	lung:	n/a	n/a
4	CHD2	chr11:51365084-51365111	K562	blood:	n/a	n/a
5	CTCF	chr11:51444498-51444564	GM13976	blood:	n/a	n/a
6	CTCF	chr11:51378106-51378166	GM10266	blood:	n/a	n/a
7	CTCF	chr11:51407006-51407062	GM10248	blood:	n/a	n/a
8	CTCF	chr11:51401114-51401184	GM13976	blood:	n/a	n/a
9	CTCF	chr11:51417744-51417793	LNCaP	prostate:	n/a	n/a
10	CTCF	chr11:51412634-51412675	GM13976	blood:	n/a	n/a
11	CTCF	chr11:51356996-51357098	GM20000	blood:	n/a	n/a
12	CTCF	chr11:51418602-51418695	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr11:51451910-51451957	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr11:51405020-51405170	HEK293	kidney:	n/a	n/a
15	CTCF	chr11:51416253-51416312	GM13976	blood:	n/a	n/a
16	CTCF	chr11:51426649-51426735	GM13976	blood:	n/a	n/a
17	CTCF	chr11:51454243-51454342	GM20000	blood:	n/a	n/a
18	CTCF	chr11:51337250-51337288	GM13976	blood:	n/a	n/a
19	CTCF	chr11:51442196-51442231	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:51412215-51412230	GM13976	blood:	n/a	n/a
21	CTCF	chr11:51425405-51425449	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr11:51415163-51415223	LNCaP	prostate:	n/a	n/a
23	FOS	chr11:51364804-51364922	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr11:51451338-51451363	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA1	chr11:51331995-51332285	HepG2	liver:	n/a	n/a
26	FOXA2	chr11:51331968-51332543	A549	lung:	n/a	n/a
27	FOXA2	chr11:51331893-51332282	A549	lung:	n/a	n/a
28	GATA2	chr11:51398907-51399153	K562	blood:	n/a	n/a
29	JUN	chr11:51377961-51377999	HepG2	liver:	n/a	chr11:51377976-51377989
30	JUND	chr11:51377963-51378006	HepG2	liver:	n/a	n/a
31	KAP1	chr11:51364557-51364788	K562	blood:	n/a	n/a
32	MAFF	chr11:51427959-51428122	K562	blood:	n/a	n/a
33	MAFF	chr11:51334583-51334748	HepG2	liver:	n/a	n/a
34	MAFK	chr11:51427958-51428110	IMR90	lung:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
35	MAFK	chr11:51427934-51428149	HepG2	liver:	n/a	chr11:51427999-51428013 chr11:51428000-51428011 chr11:51428001-51428012
36	MAFK	chr11:51334588-51334811	HepG2	liver:	n/a	chr11:51334671-51334686
37	MAFK	chr11:51334656-51334712	HepG2	liver:	n/a	chr11:51334671-51334686
38	MYC	chr11:51379474-51379531	GM12878	blood:	n/a	n/a
39	MYC	chr11:51389489-51389537	K562	blood:	n/a	n/a
40	POLR2A	chr11:51404688-51404692	Gliobla	brain:	n/a	n/a
41	POLR2A	chr11:51429755-51430137	K562	blood:	n/a	n/a
42	POLR2A	chr11:51397547-51397687	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:51437033-51437722	K562	blood:	n/a	n/a
44	POLR2A	chr11:51426264-51426694	K562	blood:	n/a	n/a
45	POLR2A	chr11:51451484-51451538	ProgFib	skin:	n/a	n/a
46	POLR2A	chr11:51434438-51434488	ProgFib	skin:	n/a	n/a
47	POLR2A	chr11:51432073-51432443	K562	blood:	n/a	n/a
48	POLR2A	chr11:51435934-51436309	K562	blood:	n/a	n/a
49	POLR2A	chr11:51433024-51433214	K562	blood:	n/a	n/a
50	POLR2A	chr11:51320928-51321083	K562	blood:	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	HMEC	breast:	n/a
2	chr11:51411541-51411591	HCPEpiC	choroid plexus:	n/a
3	chr11:51411541-51411591	MCF10A-Er-Src	breast:	n/a
4	chr11:51411541-51411591	Jurkat	blood:	n/a
5	chr11:51413644-51413694	U87	brain:	n/a
6	chr11:51413644-51413694	K562	blood:	n/a
7	chr11:51411541-51411591	PrEC	prostate:	n/a
8	chr11:51411541-51411591	IMR90	lung:	fetal
9	chr11:51413644-51413694	MCF-7	breast:	n/a
10	chr11:51411541-51411591	T-47D	breast:	n/a
11	chr11:51411541-51411591	PANC-1	pancreas:	n/a
12	chr11:51413644-51413694	LNCaP	prostate:	n/a
13	chr11:51411541-51411591	GM12891	blood:	n/a
14	chr11:51411541-51411591	U87	brain:	n/a
15	chr11:51413644-51413694	RPTEC	kidney:	n/a
16	chr11:51413644-51413694	Jurkat	blood:	n/a
17	chr11:51413644-51413694	AG09319	gingival:	n/a
18	chr11:51413644-51413694	HCF	heart:	n/a
19	chr11:51413644-51413694	AG04450	lung:	fetal
20	chr11:51413644-51413694	AG09309	skin:	n/a
21	chr11:51411541-51411591	NHBE	bronchial:	n/a
22	chr11:51413644-51413694	AG10803	skin:	n/a
23	chr11:51411541-51411591	HRE	kidney:	n/a
24	chr11:51413644-51413694	HepG2	liver:	n/a
25	chr11:51413644-51413694	SK-N-SH	brain:	n/a
26	chr11:51413644-51413694	HIPEpiC	eye:	n/a
27	chr11:51413644-51413694	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:51411541-51411591	HUVEC	blood vessel:	n/a
29	chr11:51413644-51413694	CMK	blood:	n/a
30	chr11:51411541-51411591	AG10803	skin:	n/a
31	chr11:51411541-51411591	HEEpiC	esophagus:	n/a
32	chr11:51413644-51413694	A549	lung:	n/a
33	chr11:51411541-51411591	NH-A	brain:	n/a
34	chr11:51411541-51411591	HL-60	blood:	n/a
35	chr11:51411541-51411591	Hela-S3	cervix:	n/a
36	chr11:51411541-51411591	HEK293	kidney:	embryo
37	chr11:51411541-51411591	LNCaP	prostate:	n/a
38	chr11:51413644-51413694	GM12878	blood:	n/a
39	chr11:51411541-51411591	GM12892	blood:	n/a
40	chr11:51411541-51411591	AG09319	gingival:	n/a
41	chr11:51411541-51411591	SK-N-SH	brain:	n/a
42	chr11:51413644-51413694	HRE	kidney:	n/a
43	chr11:51413644-51413694	HNPCEpiC	eye:	n/a
44	chr11:51411541-51411591	Hepatocyte	liver:	n/a
45	chr11:51413644-51413694	T-47D	breast:	n/a
46	chr11:51413644-51413694	HCM	heart:	n/a
47	chr11:51411541-51411591	CMK	blood:	n/a
48	chr11:51413644-51413694	HEK293	kidney:	embryo
49	chr11:51413644-51413694	HCT-116	colon:	n/a
50	chr11:51411541-51411591	H1-hESC	embryonic stem cell:	embryo

No data

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

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

No data

Variant related genes	Relation type
OR4A8P	TF binding region
OR4A7P	TF binding region
OR4A5	TF binding region
OR4A6P	TF binding region
OR4A2P	TF binding region
OR4A8P	CpG island
OR4A7P	CpG island
OR4A5	CpG island
OR4A6P	CpG island
OR4A2P	CpG island

Extended variants
information (count: 2338 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2338 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1603756	chr11:51314773-51314774	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117554008	chr11:51314799-51314800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112318328	chr11:51314851-51314852	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs200643023	chr11:51314865-51314866	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140752820	chr11:51314880-51314881	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569059001	chr11:51314884-51314885	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150090912	chr11:51314909-51314910	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560547127	chr11:51314936-51314937	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs191838376	chr11:51314940-51314941	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs180942808	chr11:51314943-51314944	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185218112	chr11:51314944-51314945	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs138364384	chr11:51314968-51314969	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190369825	chr11:51314976-51314977	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544502903	chr11:51314981-51314982	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563154927	chr11:51314997-51314998	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs578178700	chr11:51315009-51315010	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545728656	chr11:51315011-51315012	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182646571	chr11:51315034-51315035	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115411275	chr11:51315035-51315036	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149225057	chr11:51315056-51315057	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546253326	chr11:51315066-51315067	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188561719	chr11:51315087-51315088	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529036874	chr11:51315108-51315109	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550512350	chr11:51315119-51315120	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191882567	chr11:51315129-51315130	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183253924	chr11:51315140-51315141	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs118120863	chr11:51315143-51315144	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534201552	chr11:51315153-51315154	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs145149600	chr11:51315163-51315164	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376751786	chr11:51315175-51315176	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs77565402	chr11:51315181-51315182	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527809332	chr11:51315182-51315183	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138979820	chr11:51315194-51315195	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs142132295	chr11:51315200-51315201	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545358791	chr11:51315207-51315208	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs189123242	chr11:51315221-51315222	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs572476757	chr11:51315226-51315227	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs372714120	chr11:51315227-51315228	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539845785	chr11:51315242-51315243	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs192388661	chr11:51315257-51315258	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs552772606	chr11:51315263-51315264	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs550698449	chr11:51315295-51315296	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562522728	chr11:51315307-51315308	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs183726740	chr11:51315319-51315320	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376957395	chr11:51315339-51315340	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs146346057	chr11:51315350-51315351	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113196653	chr11:51315355-51315356	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148114153	chr11:51315361-51315362	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs527642979	chr11:51315362-51315363	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555525367	chr11:51315397-51315398	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Williams Syndrome	20824207	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51298800-51314800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:51310000-51315600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:51314800-51315800	Active TSS	Fetal Heart	heart
4	chr11:51322800-51326600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:51323600-51324600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:51324200-51327000	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr11:51335000-51338400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:51337400-51337800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr11:51338800-51343200	ZNF genes & repeats	Liver	Liver
10	chr11:51341000-51343800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:51355800-51359800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr11:51361600-51362400	ZNF genes & repeats	Liver	Liver
13	chr11:51364000-51368800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:51364400-51367000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:51366600-51367600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr11:51366600-51368400	ZNF genes & repeats	Liver	Liver
17	chr11:51369600-51370800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:51371200-51372000	ZNF genes & repeats	Liver	Liver
19	chr11:51398200-51400000	Enhancers	Dnd41	blood
20	chr11:51424200-51424600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr11:51453800-51458800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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