Variant report

Variant	esv1809768
Chromosome Location	chr11:50566719-51426645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2554)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2554 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:50712564-50712666	K562	blood:	n/a	n/a
3	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
4	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
5	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
6	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
7	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
8	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
9	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
10	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
11	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
12	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
13	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
15	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
16	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
17	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
18	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
19	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
20	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
21	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
22	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
23	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
24	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
25	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
26	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
27	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
28	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
29	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
30	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
31	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
32	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
33	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
34	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
35	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
36	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
37	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
38	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
39	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
40	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
41	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
42	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
43	BATF	chr11:50685636-50685821	GM12878	blood:	n/a	n/a
44	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
45	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
46	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
47	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
48	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
49	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
50	BATF	chr11:50676256-50676541	GM12878	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	Jurkat	blood:	n/a
2	chr11:51413644-51413694	GM06990	blood:	n/a
3	chr11:51411541-51411591	PrEC	prostate:	n/a
4	chr11:51411541-51411591	AoSMC	blood vessel:	n/a
5	chr11:51411541-51411591	K562	blood:	n/a
6	chr11:51413644-51413694	AG04449	skin:	fetal
7	chr11:51413644-51413694	HPAEpiC	pulmonary alveolar:	n/a
8	chr11:51413644-51413694	HRPEpiC	eye:	n/a
9	chr11:51413644-51413694	Hela-S3	cervix:	n/a
10	chr11:51413644-51413694	ProgFib	skin:	n/a
11	chr11:51413644-51413694	Caco-2	colon:	n/a
12	chr11:51411541-51411591	SKMC	muscle:	n/a
13	chr11:51413644-51413694	GM12891	blood:	n/a
14	chr11:51413644-51413694	BJ	skin:	n/a
15	chr11:51413644-51413694	AG10803	skin:	n/a
16	chr11:51413644-51413694	HCT-116	colon:	n/a
17	chr11:51411541-51411591	GM12878	blood:	n/a
18	chr11:51413644-51413694	NHBE	bronchial:	n/a
19	chr11:51411541-51411591	HRCEpiC	kidney:	n/a
20	chr11:51411541-51411591	NHBE	bronchial:	n/a
21	chr11:51413644-51413694	AG09319	gingival:	n/a
22	chr11:51413644-51413694	Hepatocyte	liver:	n/a
23	chr11:51411541-51411591	MCF10A-Er-Src	breast:	n/a
24	chr11:51413644-51413694	SK-N-MC	brain:	n/a
25	chr11:51413644-51413694	HEEpiC	esophagus:	n/a
26	chr11:51413644-51413694	SAEC	small airway:	n/a
27	chr11:51411541-51411591	AG04449	skin:	fetal
28	chr11:51411541-51411591	IMR90	lung:	fetal
29	chr11:51411541-51411591	SK-N-SH	brain:	n/a
30	chr11:51413644-51413694	GM12892	blood:	n/a
31	chr11:51411541-51411591	HRPEpiC	eye:	n/a
32	chr11:51413644-51413694	HEK293	kidney:	embryo
33	chr11:51411541-51411591	Hela-S3	cervix:	n/a
34	chr11:51413644-51413694	K562	blood:	n/a
35	chr11:51413644-51413694	H1-hESC	embryonic stem cell:	embryo
36	chr11:51411541-51411591	NHDF-neo	bronchial:	n/a
37	chr11:51413644-51413694	HAEpiC	amniotic membrane:	n/a
38	chr11:51413644-51413694	HCPEpiC	choroid plexus:	n/a
39	chr11:51411541-51411591	A549	lung:	n/a
40	chr11:51413644-51413694	GM19239	blood:	n/a
41	chr11:51411541-51411591	NH-A	brain:	n/a
42	chr11:51411541-51411591	AG04450	lung:	fetal
43	chr11:51411541-51411591	HEEpiC	esophagus:	n/a
44	chr11:51411541-51411591	Caco-2	colon:	n/a
45	chr11:51411541-51411591	SK-N-SH_RA	brain:	n/a
46	chr11:51413644-51413694	PrEC	prostate:	n/a
47	chr11:51413644-51413694	GM12878	blood:	n/a
48	chr11:51413644-51413694	HCF	heart:	n/a
49	chr11:51413644-51413694	AG04450	lung:	fetal
50	chr11:51411541-51411591	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:50670378..50671219-chr4:101762576..101763076,2	MCF-7	breast:
2	chr11:50731452..50731974-chr8:46856234..46856754,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR4A5	TF binding region
OR4A6P	TF binding region
ENSG00000264637	TF binding region
OR4A5	CpG island
OR4A6P	CpG island
ENSG00000264637	CpG island

Extended variants
information (count: 28302 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:28302 , 50 per page) page: 1 2 3 4 5 6 7 ... 567

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8189213	chr11:50566719-50566720	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148823933	chr11:50566773-50566774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs549448721	chr11:50566786-50566787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563424782	chr11:50566795-50566796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs146920224	chr11:50566804-50566805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549002228	chr11:50566806-50566807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568617227	chr11:50566818-50566819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76409474	chr11:50566824-50566825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188170282	chr11:50566836-50566837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs76112014	chr11:50566848-50566849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371289130	chr11:50566852-50566853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537414869	chr11:50566853-50566854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77934131	chr11:50566886-50566887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571070320	chr11:50566892-50566893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556512245	chr11:50566903-50566904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556362448	chr11:50566935-50566936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562021568	chr11:50566964-50566965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139365171	chr11:50566970-50566971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535475148	chr11:50566981-50566982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs555741311	chr11:50566991-50566992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs571963578	chr11:50567001-50567002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs192916011	chr11:50567006-50567007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576389331	chr11:50567022-50567023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184577629	chr11:50567027-50567028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577393776	chr11:50567066-50567067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs8186523	chr11:50567075-50567076	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563226441	chr11:50567100-50567101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528990705	chr11:50567118-50567119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547426056	chr11:50567119-50567120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542208842	chr11:50567122-50567123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190391580	chr11:50567124-50567125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs527952965	chr11:50567173-50567174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs548096896	chr11:50567179-50567180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571191739	chr11:50567189-50567190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs561918935	chr11:50567198-50567199	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375626392	chr11:50567206-50567207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs550392532	chr11:50567213-50567214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs115874183	chr11:50567220-50567221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535948378	chr11:50567227-50567228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs555449597	chr11:50567242-50567243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148149704	chr11:50567291-50567292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs534723763	chr11:50567305-50567306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557626493	chr11:50567321-50567322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200794637	chr11:50567325-50567326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs373751943	chr11:50567334-50567335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs8186533	chr11:50567337-50567338	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543211022	chr11:50567361-50567362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563979009	chr11:50567411-50567412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557119397	chr11:50567421-50567422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181705169	chr11:50567423-50567424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	21364760	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
Autism	22495309	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Bipolar disorder	19214233	CNVD
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Williams Syndrome	20824207	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50563600-50575400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:50563800-50580200	ZNF genes & repeats	Liver	Liver
3	chr11:50566400-50568400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr11:50575200-50577800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr11:50575800-50577000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr11:50576000-50577400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr11:50576400-50577000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr11:50580600-50587600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr11:50582000-50589600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:50586400-50587200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr11:50594200-50595400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr11:50595200-50595800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr11:50598800-50599600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr11:50600200-50602600	ZNF genes & repeats	Liver	Liver
15	chr11:50600800-50601000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr11:50602600-50603200	Active TSS	Liver	Liver
17	chr11:50602600-50604600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr11:50609800-50611200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr11:50609800-50612200	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr11:50610000-50611600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:50610000-50612000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:50610200-50611800	ZNF genes & repeats	Liver	Liver
23	chr11:50614000-50630600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:50614800-50620600	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr11:50616200-50620000	ZNF genes & repeats	Liver	Liver
26	chr11:50617400-50619400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr11:50623400-50626400	ZNF genes & repeats	Liver	Liver
28	chr11:50623600-50623800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr11:50624800-50627200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr11:50625600-50630400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr11:50627000-50638800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr11:50630600-50631400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr11:50632400-50634200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:50634200-50639400	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr11:50636600-50637000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:50637400-50640200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:50637600-50638400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr11:50638200-50639800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr11:50641200-50646400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:50641600-50642400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr11:50641600-50642400	ZNF genes & repeats	Liver	Liver
42	chr11:50641800-50642400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:50641800-50642400	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr11:50641800-50642400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr11:50641800-50652400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr11:50642000-50642200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
47	chr11:50642000-50653800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr11:50643800-50648800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr11:50643800-50652000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr11:50644200-50644400	ZNF genes & repeats	Brain Anterior Caudate	brain

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