Variant report

Variant	esv1794527
Chromosome Location	chr11:50483935-51306854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2604)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2604 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

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	chr11:50771363-50771551	K562	blood:	n/a	n/a
4	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
5	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
6	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
7	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
8	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
9	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
10	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
11	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
12	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
13	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
14	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
15	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
16	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
17	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
18	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
19	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
21	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
22	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
23	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
24	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
25	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
26	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
27	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
28	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
29	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
30	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
31	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
32	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
33	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
34	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
35	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
36	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
37	BATF	chr11:50676256-50676541	GM12878	blood:	n/a	n/a
38	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
39	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
40	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
41	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
42	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
43	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
44	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
45	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
46	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
47	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
48	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
49	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
50	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a

No data

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

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

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 30523 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:30523 , 50 per page) page: 1 2 3 4 5 6 7 ... 611

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11561057	chr11:50483935-50483936	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115191619	chr11:50483938-50483939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551961304	chr11:50483946-50483947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111568766	chr11:50483981-50483982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149639078	chr11:50483982-50483983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs35490086	chr11:50483984-50483985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542977992	chr11:50483997-50483998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190641899	chr11:50484014-50484015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183249080	chr11:50484031-50484032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs145109750	chr11:50484033-50484034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553045819	chr11:50484053-50484054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539212875	chr11:50484055-50484056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573293585	chr11:50484074-50484075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs138934378	chr11:50484078-50484079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564757767	chr11:50484117-50484118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12577988	chr11:50484125-50484126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77973798	chr11:50484126-50484127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544135980	chr11:50484133-50484134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189207980	chr11:50484145-50484146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529705614	chr11:50484152-50484153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs61895319	chr11:50484157-50484158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs193063878	chr11:50484171-50484172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559854563	chr11:50484172-50484173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575959443	chr11:50484177-50484178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545203816	chr11:50484187-50484188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532249878	chr11:50484188-50484189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs551958825	chr11:50484232-50484233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs571898062	chr11:50484242-50484243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544929090	chr11:50484243-50484244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550116098	chr11:50484266-50484267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs142065806	chr11:50484277-50484278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184630994	chr11:50484278-50484279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561938226	chr11:50484284-50484285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78633746	chr11:50484285-50484286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146341660	chr11:50484299-50484300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs186715156	chr11:50484302-50484303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148530841	chr11:50484333-50484334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558608461	chr11:50484345-50484346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs575138982	chr11:50484363-50484364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs116276208	chr11:50484370-50484371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs150614315	chr11:50484385-50484386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113683086	chr11:50484396-50484397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540122733	chr11:50484427-50484428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369769863	chr11:50484440-50484441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191176892	chr11:50484465-50484466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs187067931	chr11:50484468-50484469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573602330	chr11:50484488-50484489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs529132237	chr11:50484503-50484504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562566847	chr11:50484510-50484511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531388188	chr11:50484524-50484525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Bipolar disorder	19114987	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:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50472800-50489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:50474400-50484600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr11:50481600-50485600	ZNF genes & repeats	Liver	Liver
4	chr11:50483400-50489400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:50486000-50486800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr11:50487400-50492400	ZNF genes & repeats	Liver	Liver
7	chr11:50487400-50492600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr11:50490400-50490800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr11:50492400-50492800	Active TSS	Aorta	Aorta
10	chr11:50493400-50494600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:50494200-50495800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:50496800-50497600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr11:50498800-50499800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr11:50499200-50503400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:50502600-50504600	ZNF genes & repeats	Liver	Liver
16	chr11:50510800-50517800	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr11:50512200-50513800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr11:50513200-50516400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr11:50516200-50518200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:50517400-50518200	ZNF genes & repeats	Liver	Liver
21	chr11:50522000-50523000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr11:50522000-50526000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr11:50522000-50528400	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr11:50522200-50522400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:50522200-50522600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr11:50522200-50522600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr11:50522200-50522600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:50522200-50522600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:50522200-50522600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:50522200-50522600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
34	chr11:50522200-50522600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr11:50522200-50522600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:50522200-50522600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:50522200-50522600	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr11:50522200-50522600	ZNF genes & repeats	Colon Smooth Muscle	Colon
40	chr11:50522200-50522600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr11:50522200-50522600	ZNF genes & repeats	HUVEC	blood vessel
42	chr11:50522200-50522600	ZNF genes & repeats	K562	blood
43	chr11:50522200-50522600	ZNF genes & repeats	NH-A	brain
44	chr11:50522200-50522800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
45	chr11:50522200-50522800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:50522200-50522800	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr11:50522200-50522800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr11:50522200-50522800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr11:50522200-50523200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:50522200-50524600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links