Variant report

Variant	esv1795937
Chromosome Location	chr11:48735614-48911192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2551)
CpG islands
(count:244)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2551 , 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	chr11:48895975-48896341	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:48880376-48880748	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:48892892-48893269	HepG2	liver:	n/a	n/a
4	ATF1	chr11:48867583-48867993	K562	blood:	n/a	n/a
5	ATF1	chr11:48896850-48897050	K562	blood:	n/a	n/a
6	ATF1	chr11:48845364-48845733	K562	blood:	n/a	n/a
7	ATF1	chr11:48849264-48849333	K562	blood:	n/a	n/a
8	ATF1	chr11:48880374-48880748	K562	blood:	n/a	n/a
9	ATF1	chr11:48883351-48883720	K562	blood:	n/a	n/a
10	ATF1	chr11:48859189-48859770	K562	blood:	n/a	n/a
11	ATF1	chr11:48796111-48796444	K562	blood:	n/a	n/a
12	ATF1	chr11:48895825-48896343	K562	blood:	n/a	n/a
13	ATF1	chr11:48892890-48893270	K562	blood:	n/a	n/a
14	ATF3	chr11:48892858-48893151	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr11:48845439-48845653	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr11:48881669-48882080	K562	blood:	n/a	n/a
17	BACH1	chr11:48814467-48814498	K562	blood:	n/a	n/a
18	BATF	chr11:48805015-48805320	GM12878	blood:	n/a	n/a
19	BATF	chr11:48776576-48776723	GM12878	blood:	n/a	n/a
20	BATF	chr11:48831050-48831447	GM12878	blood:	n/a	n/a
21	BATF	chr11:48894524-48895290	GM12878	blood:	n/a	n/a
22	BATF	chr11:48883213-48883919	GM12878	blood:	n/a	n/a
23	BATF	chr11:48817733-48818014	GM12878	blood:	n/a	n/a
24	BATF	chr11:48867136-48868238	GM12878	blood:	n/a	n/a
25	BATF	chr11:48898958-48899437	GM12878	blood:	n/a	n/a
26	BATF	chr11:48776572-48776725	GM12878	blood:	n/a	n/a
27	BATF	chr11:48861796-48862105	GM12878	blood:	n/a	n/a
28	BATF	chr11:48834403-48834545	GM12878	blood:	n/a	n/a
29	BATF	chr11:48885664-48885889	GM12878	blood:	n/a	n/a
30	BATF	chr11:48810099-48810738	GM12878	blood:	n/a	n/a
31	BATF	chr11:48844664-48844887	GM12878	blood:	n/a	n/a
32	BATF	chr11:48906491-48906775	GM12878	blood:	n/a	chr11:48906618-48906628
33	BATF	chr11:48894608-48895288	GM12878	blood:	n/a	n/a
34	BATF	chr11:48867677-48867900	GM12878	blood:	n/a	n/a
35	BATF	chr11:48828245-48828584	GM12878	blood:	n/a	n/a
36	BATF	chr11:48804986-48805223	GM12878	blood:	n/a	n/a
37	BATF	chr11:48839569-48839852	GM12878	blood:	n/a	n/a
38	BATF	chr11:48856704-48856991	GM12878	blood:	n/a	n/a
39	BATF	chr11:48887996-48888565	GM12878	blood:	n/a	n/a
40	BATF	chr11:48898982-48899252	GM12878	blood:	n/a	n/a
41	BATF	chr11:48810469-48810756	GM12878	blood:	n/a	n/a
42	BATF	chr11:48888085-48888631	GM12878	blood:	n/a	n/a
43	BATF	chr11:48877883-48878085	GM12878	blood:	n/a	n/a
44	BATF	chr11:48861740-48862096	GM12878	blood:	n/a	n/a
45	BATF	chr11:48877440-48877803	GM12878	blood:	n/a	n/a
46	BATF	chr11:48810174-48810367	GM12878	blood:	n/a	n/a
47	BATF	chr11:48883215-48883597	GM12878	blood:	n/a	n/a
48	BATF	chr11:48854637-48855193	GM12878	blood:	n/a	n/a
49	BATF	chr11:48885554-48885939	GM12878	blood:	n/a	n/a
50	BATF	chr11:48906543-48906879	GM12878	blood:	n/a	chr11:48906618-48906628

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48901914-48901964	GM12892	blood:	n/a
2	chr11:48901914-48901964	HepG2	liver:	n/a
3	chr11:48901914-48901964	AG09309	skin:	n/a
4	chr11:48880009-48880059	HCPEpiC	choroid plexus:	n/a
5	chr11:48901705-48901755	HEEpiC	esophagus:	n/a
6	chr11:48902014-48902064	GM19239	blood:	n/a
7	chr11:48880009-48880059	NB4	blood:	n/a
8	chr11:48901914-48901964	AoSMC	blood vessel:	n/a
9	chr11:48901914-48901964	AG04449	skin:	fetal
10	chr11:48902014-48902064	HepG2	liver:	n/a
11	chr11:48902014-48902064	SK-N-SH_RA	brain:	n/a
12	chr11:48901914-48901964	MCF-7	breast:	n/a
13	chr11:48902014-48902064	GM12892	blood:	n/a
14	chr11:48902014-48902064	HCT-116	colon:	n/a
15	chr11:48902014-48902064	HRCEpiC	kidney:	n/a
16	chr11:48901705-48901755	GM12892	blood:	n/a
17	chr11:48901705-48901755	GM12891	blood:	n/a
18	chr11:48901914-48901964	HL-60	blood:	n/a
19	chr11:48902014-48902064	HCF	heart:	n/a
20	chr11:48902014-48902064	MCF-7	breast:	n/a
21	chr11:48901914-48901964	HCT-116	colon:	n/a
22	chr11:48880009-48880059	GM06990	blood:	n/a
23	chr11:48901914-48901964	U87	brain:	n/a
24	chr11:48901914-48901964	Jurkat	blood:	n/a
25	chr11:48902014-48902064	ECC-1	luminal epithelium:	n/a
26	chr11:48901705-48901755	AG09309	skin:	n/a
27	chr11:48902014-48902064	H1-hESC	embryonic stem cell:	embryo
28	chr11:48902014-48902064	AG09319	gingival:	n/a
29	chr11:48901914-48901964	HCF	heart:	n/a
30	chr11:48902014-48902064	T-47D	breast:	n/a
31	chr11:48902014-48902064	Hepatocyte	liver:	n/a
32	chr11:48901705-48901755	HepG2	liver:	n/a
33	chr11:48902014-48902064	AoSMC	blood vessel:	n/a
34	chr11:48901705-48901755	HRCEpiC	kidney:	n/a
35	chr11:48880009-48880059	HRE	kidney:	n/a
36	chr11:48901705-48901755	AG09319	gingival:	n/a
37	chr11:48902014-48902064	PANC-1	pancreas:	n/a
38	chr11:48901705-48901755	GM19239	blood:	n/a
39	chr11:48901705-48901755	ovcar-3	ovarian:	n/a
40	chr11:48902014-48902064	NB4	blood:	n/a
41	chr11:48901705-48901755	Hepatocyte	liver:	n/a
42	chr11:48901914-48901964	MCF10A-Er-Src	breast:	n/a
43	chr11:48901914-48901964	H1-hESC	embryonic stem cell:	embryo
44	chr11:48902014-48902064	HCM	heart:	n/a
45	chr11:48901705-48901755	MCF-7	breast:	n/a
46	chr11:48901705-48901755	RPTEC	kidney:	n/a
47	chr11:48880009-48880059	AoSMC	blood vessel:	n/a
48	chr11:48880009-48880059	Hela-S3	cervix:	n/a
49	chr11:48901705-48901755	U87	brain:	n/a
50	chr11:48880009-48880059	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:
2	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
3	chr1:121484496..121485051-chr11:48865024..48865528,2	K562	blood:
4	chr1:121484040..121484766-chr11:48865024..48865526,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255551	TF binding region
ENSG00000254920	TF binding region
ENSG00000255551	CpG island
ENSG00000254920	CpG island

Extended variants
information (count: 14184 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:14184 , 50 per page) page: 1 2 3 4 5 6 7 ... 284

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561047504	chr11:48735636-48735637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569753803	chr11:48735637-48735638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2135687	chr11:48735660-48735661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548999015	chr11:48735665-48735666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529941956	chr11:48735667-48735668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565544802	chr11:48735671-48735672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546573395	chr11:48735689-48735690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2135686	chr11:48735702-48735703	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375254851	chr11:48735704-48735705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532312799	chr11:48735741-48735742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193294749	chr11:48735817-48735818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144150808	chr11:48735855-48735856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78608213	chr11:48735856-48735857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74806954	chr11:48735860-48735861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75365829	chr11:48735863-48735864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530875463	chr11:48735864-48735865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80089656	chr11:48735866-48735867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77644476	chr11:48735872-48735873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550692701	chr11:48735875-48735876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112435356	chr11:48735876-48735877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111824156	chr11:48735886-48735887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76436782	chr11:48735887-48735888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76664065	chr11:48735891-48735892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3942786	chr11:48735892-48735893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79114764	chr11:48735893-48735894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79312104	chr11:48735895-48735896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537225464	chr11:48735896-48735897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536893055	chr11:48735900-48735901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77774115	chr11:48735901-48735902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76526392	chr11:48735910-48735911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193076650	chr11:48735913-48735914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76656731	chr11:48735918-48735919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111512443	chr11:48735921-48735922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185325863	chr11:48735924-48735925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79224882	chr11:48735928-48735929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79158777	chr11:48735931-48735932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56381964	chr11:48735952-48735953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183771625	chr11:48735983-48735984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374427713	chr11:48735989-48735990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188395260	chr11:48735998-48735999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150816609	chr11:48735999-48736000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148861793	chr11:48736004-48736005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201525355	chr11:48736018-48736019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199552864	chr11:48736022-48736023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200322060	chr11:48736024-48736025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542759967	chr11:48736040-48736041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575346261	chr11:48736051-48736052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112870539	chr11:48736085-48736086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12225683	chr11:48736092-48736093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554751724	chr11:48736093-48736094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
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
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
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	21163964	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48733200-48735800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:48734200-48738400	Weak transcription	Right Atrium	heart
3	chr11:48736600-48742600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:48738000-48739600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr11:48738400-48739200	Active TSS	Right Atrium	heart
6	chr11:48738800-48742000	ZNF genes & repeats	Liver	Liver
7	chr11:48741200-48742400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:48743800-48744600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr11:48744200-48744800	ZNF genes & repeats	Liver	Liver
10	chr11:48750800-48751400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr11:48762000-48763800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr11:48762600-48764200	ZNF genes & repeats	Liver	Liver
13	chr11:48763000-48763600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:48763000-48765600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:48763200-48763400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
16	chr11:48763200-48763600	Active TSS	Aorta	Aorta
17	chr11:48763200-48763600	ZNF genes & repeats	Brain Anterior Caudate	brain
18	chr11:48763200-48763600	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr11:48763200-48763600	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr11:48763200-48766200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:48763200-48766200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr11:48771800-48772200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:48774600-48774800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:48774800-48776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:48775400-48776000	Active TSS	Aorta	Aorta
26	chr11:48775800-48776600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:48776400-48776600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:48777400-48780800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr11:48778200-48781800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr11:48779600-48782600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:48787200-48792800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:48789200-48789800	Active TSS	Fetal Heart	heart
33	chr11:48789800-48796200	Weak transcription	Fetal Heart	heart
34	chr11:48791000-48791200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:48791200-48796200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:48793000-48793200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr11:48793200-48793400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:48793200-48796200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:48794800-48796200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:48795400-48796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:48796000-48797600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr11:48796000-48802600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:48796200-48796400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr11:48796200-48796400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:48796200-48796400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:48796200-48796400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr11:48796200-48796400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr11:48796200-48796400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:48796200-48796400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:48796200-48796400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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