Variant report

Variant	esv2829950
Chromosome Location	chr11:50461838-51372036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2655)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2655 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:50712564-50712666	K562	blood:	n/a	n/a
2	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
3	ATF1	chr11:51250147-51250516	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	chr11:50757990-50758182	K562	blood:	n/a	n/a
7	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
8	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
9	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
10	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
11	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
12	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
13	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
14	BACH1	chr11:50741715-50742187	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	chr11:50739007-50739300	K562	blood:	n/a	n/a
18	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
19	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
20	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
21	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
22	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
24	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
25	BATF	chr11:50676256-50676541	GM12878	blood:	n/a	n/a
26	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
27	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
28	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
29	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
30	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
31	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
32	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
33	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
34	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
35	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
36	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
37	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
38	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
39	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
40	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
41	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
42	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
43	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
44	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
45	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
46	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
47	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
48	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
49	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
50	BATF	chr11:50742992-50743342	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	chr11:50670378..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
ENSG00000264637	TF binding region

Extended variants
information (count: 33739 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33739 , 50 per page) page: 1 2 3 4 5 6 7 ... 675

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7294136	chr11:50464201-50464202	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375052463	chr11:50464202-50464203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561590570	chr11:50464228-50464229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs575104600	chr11:50464229-50464230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540791934	chr11:50464253-50464254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs543867177	chr11:50464257-50464258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs140879132	chr11:50464305-50464306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs532831214	chr11:50464306-50464307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369251077	chr11:50464310-50464311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs552334803	chr11:50464321-50464322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs61895304	chr11:50464330-50464331	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183186460	chr11:50464333-50464334	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372414670	chr11:50464345-50464346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562353183	chr11:50464356-50464357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187474969	chr11:50464359-50464360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs12791339	chr11:50464360-50464361	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533753447	chr11:50464365-50464366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547175667	chr11:50464385-50464386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570441772	chr11:50464395-50464396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs61895305	chr11:50464409-50464410	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527333348	chr11:50464413-50464414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371981095	chr11:50464414-50464415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150153178	chr11:50464429-50464430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569645541	chr11:50464435-50464436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138560008	chr11:50464472-50464473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs369999648	chr11:50464480-50464481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572153260	chr11:50464482-50464483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs540855260	chr11:50464531-50464532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192842780	chr11:50464550-50464551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149273851	chr11:50464571-50464572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546483941	chr11:50464576-50464577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547387639	chr11:50464601-50464602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs562993713	chr11:50464603-50464604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531753604	chr11:50464606-50464607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541823983	chr11:50464646-50464647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs1589621	chr11:50464655-50464656	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3038561	chr11:50464665-50464666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200006070	chr11:50464671-50464672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201010610	chr11:50464673-50464674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201988382	chr11:50464674-50464675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs527758785	chr11:50464686-50464687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547238819	chr11:50464698-50464699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs146948391	chr11:50464705-50464706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570304475	chr11:50464747-50464748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540144407	chr11:50464748-50464749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112590249	chr11:50464766-50464767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs200118747	chr11:50464810-50464811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201264673	chr11:50464815-50464816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73472224	chr11:50464821-50464822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535464279	chr11:50464839-50464840	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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50464200-50466200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr11:50464600-50465000	ZNF genes & repeats	Liver	Liver
3	chr11:50472800-50489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:50473800-50477200	ZNF genes & repeats	Liver	Liver
5	chr11:50474400-50484600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr11:50475000-50475400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:50475000-50475800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:50475200-50475400	ZNF genes & repeats	HepG2	liver
9	chr11:50476400-50480000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr11:50476600-50478000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:50476800-50478800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr11:50481600-50485600	ZNF genes & repeats	Liver	Liver
13	chr11:50483400-50489400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr11:50486000-50486800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:50487400-50492400	ZNF genes & repeats	Liver	Liver
16	chr11:50487400-50492600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr11:50490400-50490800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr11:50492400-50492800	Active TSS	Aorta	Aorta
19	chr11:50493400-50494600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr11:50494200-50495800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:50496800-50497600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:50498800-50499800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr11:50499200-50503400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:50502600-50504600	ZNF genes & repeats	Liver	Liver
25	chr11:50510800-50517800	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr11:50512200-50513800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr11:50513200-50516400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr11:50516200-50518200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:50517400-50518200	ZNF genes & repeats	Liver	Liver
30	chr11:50522000-50523000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr11:50522000-50526000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr11:50522000-50528400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr11:50522200-50522400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:50522200-50522600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr11:50522200-50522600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr11:50522200-50522600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:50522200-50522600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:50522200-50522600	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:50522200-50522600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:50522200-50522600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr11:50522200-50522600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr11:50522200-50522600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:50522200-50522600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:50522200-50522600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:50522200-50522600	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr11:50522200-50522600	ZNF genes & repeats	Colon Smooth Muscle	Colon
49	chr11:50522200-50522600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr11:50522200-50522600	ZNF genes & repeats	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links