Variant report

Variant	nsv554754
Chromosome Location	chr11:54958853-55026160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1166)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1166 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:55019501-55019863	K562	blood:	n/a	n/a
2	ATF1	chr11:54961546-54961918	K562	blood:	n/a	n/a
3	ATF1	chr11:55025562-55025910	K562	blood:	n/a	n/a
4	ATF1	chr11:54997083-54997606	K562	blood:	n/a	n/a
5	BACH1	chr11:55023515-55023741	K562	blood:	n/a	n/a
6	BACH1	chr11:54965393-54965420	K562	blood:	n/a	n/a
7	BACH1	chr11:54997720-54998094	K562	blood:	n/a	n/a
8	BATF	chr11:55000059-55000268	GM12878	blood:	n/a	n/a
9	BATF	chr11:54993502-54993709	GM12878	blood:	n/a	n/a
10	BATF	chr11:55014461-55014721	GM12878	blood:	n/a	n/a
11	BATF	chr11:55026006-55026557	GM12878	blood:	n/a	n/a
12	BATF	chr11:55000026-55000210	GM12878	blood:	n/a	n/a
13	BATF	chr11:54975053-54975273	GM12878	blood:	n/a	n/a
14	BATF	chr11:54993469-54993708	GM12878	blood:	n/a	n/a
15	BATF	chr11:54994433-54994731	GM12878	blood:	n/a	n/a
16	BATF	chr11:55008045-55008551	GM12878	blood:	n/a	n/a
17	BATF	chr11:54990182-54990428	GM12878	blood:	n/a	n/a
18	BATF	chr11:55016992-55017300	GM12878	blood:	n/a	n/a
19	BATF	chr11:54995653-54995836	GM12878	blood:	n/a	n/a
20	BATF	chr11:55015341-55015571	GM12878	blood:	n/a	n/a
21	BATF	chr11:55024927-55025127	GM12878	blood:	n/a	n/a
22	BATF	chr11:55022914-55023156	GM12878	blood:	n/a	n/a
23	BATF	chr11:54995261-54995543	GM12878	blood:	n/a	n/a
24	BATF	chr11:55024818-55025202	GM12878	blood:	n/a	n/a
25	BATF	chr11:55015283-55015573	GM12878	blood:	n/a	n/a
26	BATF	chr11:54995652-54995903	GM12878	blood:	n/a	n/a
27	BATF	chr11:55017098-55017251	GM12878	blood:	n/a	n/a
28	BATF	chr11:55016579-55016914	GM12878	blood:	n/a	n/a
29	BATF	chr11:55025599-55025897	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:55025512-55025873	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:55015258-55015698	GM12878	blood:	n/a	n/a
32	BCL11A	chr11:55017059-55017314	GM12878	blood:	n/a	n/a
33	BCL11A	chr11:55024915-55025213	GM12878	blood:	n/a	n/a
34	BCL11A	chr11:55025607-55025773	GM12878	blood:	n/a	n/a
35	BCL11A	chr11:55015335-55015565	GM12878	blood:	n/a	n/a
36	BCL11A	chr11:54995636-54995883	GM12878	blood:	n/a	n/a
37	BCL11A	chr11:54993439-54993711	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:54990210-54990502	GM12878	blood:	n/a	n/a
39	BCL11A	chr11:54995655-54995834	GM12878	blood:	n/a	n/a
40	BCL11A	chr11:54990163-54990439	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:54997331-54997474	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:55000041-55000203	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:54994518-54994736	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:54993493-54993698	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:54995255-54995565	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:55021527-55021954	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:55000051-55000252	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:55014434-55014749	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:55017103-55017275	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:55026097-55026292	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
TRIM48	TF binding region

Extended variants
information (count: 5588 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:5588 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11494088	chr11:54958853-54958854	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542216775	chr11:54958867-54958868	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201001296	chr11:54958868-54958869	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs202200557	chr11:54958874-54958875	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200070606	chr11:54958877-54958878	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112424104	chr11:54958881-54958882	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs77824599	chr11:54958900-54958901	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535114865	chr11:54958904-54958905	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs199611985	chr11:54958916-54958917	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs11518591	chr11:54958917-54958918	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574757631	chr11:54958919-54958920	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs189642332	chr11:54958923-54958924	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375806914	chr11:54958927-54958928	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557343790	chr11:54958930-54958931	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs368232281	chr11:54958944-54958945	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375886374	chr11:54958946-54958947	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372956456	chr11:54958947-54958948	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376701186	chr11:54958952-54958953	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149852794	chr11:54958962-54958963	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181926970	chr11:54958968-54958969	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546094472	chr11:54959003-54959004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555630498	chr11:54959013-54959014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187419089	chr11:54959033-54959034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113358167	chr11:54959063-54959064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs541106915	chr11:54959064-54959065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs386753637	chr11:54959073-54959074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs551076251	chr11:54959093-54959094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201672273	chr11:54959113-54959114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559212468	chr11:54959122-54959123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs529818938	chr11:54959141-54959142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78974712	chr11:54959142-54959143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs572919148	chr11:54959162-54959163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541427796	chr11:54959165-54959166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs563282296	chr11:54959167-54959168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530779519	chr11:54959168-54959169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs376995443	chr11:54959192-54959193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534932247	chr11:54959200-54959201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371421982	chr11:54959219-54959220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369775336	chr11:54959221-54959222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540020744	chr11:54959239-54959240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571094866	chr11:54959281-54959282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547047888	chr11:54959282-54959283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568430785	chr11:54959300-54959301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149038774	chr11:54959311-54959312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556892765	chr11:54959320-54959321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs80313863	chr11:54959364-54959365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111239896	chr11:54959367-54959368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs530664767	chr11:54959371-54959372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76703078	chr11:54959381-54959382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76404481	chr11:54959385-54959386	ZNF genes & repeats	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:293 , 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	chr11:54958000-54959000	Active TSS	Right Atrium	heart
6	chr11:54960800-54961600	Weak transcription	NH-A	brain
7	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
8	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:54961600-54961800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:54961600-54961800	ZNF genes & repeats	Gastric	stomach
14	chr11:54961600-54961800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
15	chr11:54961600-54961800	ZNF genes & repeats	HMEC	breast
16	chr11:54961600-54961800	ZNF genes & repeats	NHLF	lung
17	chr11:54961600-54962000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:54961600-54962000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:54961600-54962000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:54961600-54962000	Active TSS	Aorta	Aorta
21	chr11:54961600-54962000	Active TSS	Fetal Heart	heart
22	chr11:54961600-54962000	ZNF genes & repeats	Left Ventricle	heart
23	chr11:54961600-54962000	Active TSS	A549	lung
24	chr11:54961600-54962000	Active TSS	HSMMtube	muscle
25	chr11:54961600-54962000	ZNF genes & repeats	HUVEC	blood vessel
26	chr11:54961600-54962000	ZNF genes & repeats	K562	blood
27	chr11:54961600-54962000	ZNF genes & repeats	NH-A	brain
28	chr11:54961600-54962000	ZNF genes & repeats	Osteobl	bone
29	chr11:54961600-54962200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr11:54961600-54962200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr11:54961800-54962000	ZNF genes & repeats	Dnd41	blood
32	chr11:54961800-54962000	Bivalent Enhancer	Hela-S3	cervix
33	chr11:54962000-54963400	Weak transcription	HUVEC	blood vessel
34	chr11:54962000-54963600	Weak transcription	NH-A	brain
35	chr11:54963400-54963800	ZNF genes & repeats	HUVEC	blood vessel
36	chr11:54963600-54963800	Active TSS	NH-A	brain
37	chr11:54970200-54973600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr11:54971600-54972600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr11:54972000-54972200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr11:54972000-54972200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:54972000-54972200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
42	chr11:54972000-54972200	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr11:54972000-54972200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
44	chr11:54972000-54972200	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr11:54972000-54972200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr11:54972000-54972200	ZNF genes & repeats	Fetal Lung	lung
47	chr11:54972000-54974000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:54979000-54980000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr11:54979000-54987400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr11:54979200-54979800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links