Variant report

Variant	nsv511469
Chromosome Location	chr11:54961685-55026160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1150)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1150 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:54997083-54997606	K562	blood:	n/a	n/a
2	ATF1	chr11:54961546-54961918	K562	blood:	n/a	n/a
3	ATF1	chr11:55019501-55019863	K562	blood:	n/a	n/a
4	ATF1	chr11:55025562-55025910	K562	blood:	n/a	n/a
5	BACH1	chr11:54965393-54965420	K562	blood:	n/a	n/a
6	BACH1	chr11:55023515-55023741	K562	blood:	n/a	n/a
7	BACH1	chr11:54997720-54998094	K562	blood:	n/a	n/a
8	BATF	chr11:55014461-55014721	GM12878	blood:	n/a	n/a
9	BATF	chr11:55000026-55000210	GM12878	blood:	n/a	n/a
10	BATF	chr11:55024818-55025202	GM12878	blood:	n/a	n/a
11	BATF	chr11:54975053-54975273	GM12878	blood:	n/a	n/a
12	BATF	chr11:54993469-54993708	GM12878	blood:	n/a	n/a
13	BATF	chr11:55022914-55023156	GM12878	blood:	n/a	n/a
14	BATF	chr11:55008045-55008551	GM12878	blood:	n/a	n/a
15	BATF	chr11:55025599-55025897	GM12878	blood:	n/a	n/a
16	BATF	chr11:54995652-54995903	GM12878	blood:	n/a	n/a
17	BATF	chr11:55016579-55016914	GM12878	blood:	n/a	n/a
18	BATF	chr11:54990182-54990428	GM12878	blood:	n/a	n/a
19	BATF	chr11:54995261-54995543	GM12878	blood:	n/a	n/a
20	BATF	chr11:54995653-54995836	GM12878	blood:	n/a	n/a
21	BATF	chr11:55016992-55017300	GM12878	blood:	n/a	n/a
22	BATF	chr11:55026006-55026557	GM12878	blood:	n/a	n/a
23	BATF	chr11:55017098-55017251	GM12878	blood:	n/a	n/a
24	BATF	chr11:54994433-54994731	GM12878	blood:	n/a	n/a
25	BATF	chr11:55024927-55025127	GM12878	blood:	n/a	n/a
26	BATF	chr11:55015283-55015573	GM12878	blood:	n/a	n/a
27	BATF	chr11:55000059-55000268	GM12878	blood:	n/a	n/a
28	BATF	chr11:54993502-54993709	GM12878	blood:	n/a	n/a
29	BATF	chr11:55015341-55015571	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:55017103-55017275	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:54990210-54990502	GM12878	blood:	n/a	n/a
32	BCL11A	chr11:55024915-55025213	GM12878	blood:	n/a	n/a
33	BCL11A	chr11:55026097-55026292	GM12878	blood:	n/a	n/a
34	BCL11A	chr11:55021527-55021954	GM12878	blood:	n/a	n/a
35	BCL11A	chr11:55015335-55015565	GM12878	blood:	n/a	n/a
36	BCL11A	chr11:54993493-54993698	GM12878	blood:	n/a	n/a
37	BCL11A	chr11:55017059-55017314	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:55000041-55000203	GM12878	blood:	n/a	n/a
39	BCL11A	chr11:55024935-55025184	GM12878	blood:	n/a	n/a
40	BCL11A	chr11:55015258-55015698	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:54995655-54995834	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:55025512-55025873	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:55000051-55000252	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:54993439-54993711	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:54997331-54997474	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:54995255-54995565	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:55025996-55026628	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:54994518-54994736	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:55014434-55014749	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:55025607-55025773	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
TRIM48	TF binding region

Extended variants
information (count: 5329 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:5329 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76863730	chr11:54961685-54961686	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs538562950	chr11:54961690-54961691	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs74447667	chr11:54961691-54961692	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs77755144	chr11:54961692-54961693	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs143148381	chr11:54961698-54961699	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs78270117	chr11:54961699-54961700	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs77474772	chr11:54961702-54961703	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs202230366	chr11:54961703-54961704	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs61894810	chr11:54961716-54961717	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs61894811	chr11:54961719-54961720	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs573941734	chr11:54961725-54961726	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs182983789	chr11:54961729-54961730	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs74683239	chr11:54961740-54961741	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs75653739	chr11:54961742-54961743	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs78223560	chr11:54961750-54961751	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs79093224	chr11:54961751-54961752	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs374972980	chr11:54961757-54961758	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs536739414	chr11:54961759-54961760	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs553004838	chr11:54961773-54961774	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs545360746	chr11:54961778-54961779	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs200363176	chr11:54961798-54961799	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs573113147	chr11:54961811-54961812	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs555130507	chr11:54961828-54961829	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs571726841	chr11:54961851-54961852	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs576635656	chr11:54961859-54961860	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs73477930	chr11:54961874-54961875	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565289717	chr11:54961896-54961897	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs545238635	chr11:54961910-54961911	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs111426248	chr11:54961920-54961921	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs537543814	chr11:54961934-54961935	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs190779432	chr11:54961953-54961954	ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs187652438	chr11:54962007-54962008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151160855	chr11:54962044-54962045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138600435	chr11:54962058-54962059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142810383	chr11:54962061-54962062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373702004	chr11:54962064-54962065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191768025	chr11:54962096-54962097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112076820	chr11:54962097-54962098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560622039	chr11:54962113-54962114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113110889	chr11:54962114-54962115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531320372	chr11:54962121-54962122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370197131	chr11:54962129-54962130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549322526	chr11:54962134-54962135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113481629	chr11:54962136-54962137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144510984	chr11:54962139-54962140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570910624	chr11:54962149-54962150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61894812	chr11:54962165-54962166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141301533	chr11:54962170-54962171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148161431	chr11:54962177-54962178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112050309	chr11:54962178-54962179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
6	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:54961600-54961800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:54961600-54961800	ZNF genes & repeats	Gastric	stomach
12	chr11:54961600-54961800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
13	chr11:54961600-54961800	ZNF genes & repeats	HMEC	breast
14	chr11:54961600-54961800	ZNF genes & repeats	NHLF	lung
15	chr11:54961600-54962000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:54961600-54962000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:54961600-54962000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:54961600-54962000	Active TSS	Aorta	Aorta
19	chr11:54961600-54962000	Active TSS	Fetal Heart	heart
20	chr11:54961600-54962000	ZNF genes & repeats	Left Ventricle	heart
21	chr11:54961600-54962000	Active TSS	A549	lung
22	chr11:54961600-54962000	Active TSS	HSMMtube	muscle
23	chr11:54961600-54962000	ZNF genes & repeats	HUVEC	blood vessel
24	chr11:54961600-54962000	ZNF genes & repeats	K562	blood
25	chr11:54961600-54962000	ZNF genes & repeats	NH-A	brain
26	chr11:54961600-54962000	ZNF genes & repeats	Osteobl	bone
27	chr11:54961600-54962200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr11:54961600-54962200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr11:54961800-54962000	ZNF genes & repeats	Dnd41	blood
30	chr11:54961800-54962000	Bivalent Enhancer	Hela-S3	cervix
31	chr11:54962000-54963400	Weak transcription	HUVEC	blood vessel
32	chr11:54962000-54963600	Weak transcription	NH-A	brain
33	chr11:54963400-54963800	ZNF genes & repeats	HUVEC	blood vessel
34	chr11:54963600-54963800	Active TSS	NH-A	brain
35	chr11:54970200-54973600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr11:54971600-54972600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr11:54972000-54972200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr11:54972000-54972200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:54972000-54972200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
40	chr11:54972000-54972200	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr11:54972000-54972200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
42	chr11:54972000-54972200	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr11:54972000-54972200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr11:54972000-54972200	ZNF genes & repeats	Fetal Lung	lung
45	chr11:54972000-54974000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:54979000-54980000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr11:54979000-54987400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
48	chr11:54979200-54979800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr11:54979200-54980600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr11:54979400-54979800	ZNF genes & repeats	Brain Hippocampus Middle	brain

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