Variant report

Variant	nsv554731
Chromosome Location	chr11:54934563-55028309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1377)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1377 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:55026236-55026614	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:54944326-54944655	HepG2	liver:	n/a	n/a
3	ATF1	chr11:54997083-54997606	K562	blood:	n/a	n/a
4	ATF1	chr11:55019501-55019863	K562	blood:	n/a	n/a
5	ATF1	chr11:54944286-54944657	K562	blood:	n/a	n/a
6	ATF1	chr11:55026235-55026613	K562	blood:	n/a	n/a
7	ATF1	chr11:54961546-54961918	K562	blood:	n/a	n/a
8	ATF1	chr11:55025562-55025910	K562	blood:	n/a	n/a
9	BACH1	chr11:54997720-54998094	K562	blood:	n/a	n/a
10	BACH1	chr11:54965393-54965420	K562	blood:	n/a	n/a
11	BACH1	chr11:55023515-55023741	K562	blood:	n/a	n/a
12	BATF	chr11:54993502-54993709	GM12878	blood:	n/a	n/a
13	BATF	chr11:55014461-55014721	GM12878	blood:	n/a	n/a
14	BATF	chr11:54990182-54990428	GM12878	blood:	n/a	n/a
15	BATF	chr11:54941694-54941923	GM12878	blood:	n/a	n/a
16	BATF	chr11:55000059-55000268	GM12878	blood:	n/a	n/a
17	BATF	chr11:55016992-55017300	GM12878	blood:	n/a	n/a
18	BATF	chr11:55026006-55026557	GM12878	blood:	n/a	n/a
19	BATF	chr11:55015283-55015573	GM12878	blood:	n/a	n/a
20	BATF	chr11:55027264-55027610	GM12878	blood:	n/a	n/a
21	BATF	chr11:54995653-54995836	GM12878	blood:	n/a	n/a
22	BATF	chr11:55027309-55027604	GM12878	blood:	n/a	n/a
23	BATF	chr11:55000026-55000210	GM12878	blood:	n/a	n/a
24	BATF	chr11:55025599-55025897	GM12878	blood:	n/a	n/a
25	BATF	chr11:55026320-55026550	GM12878	blood:	n/a	n/a
26	BATF	chr11:54975053-54975273	GM12878	blood:	n/a	n/a
27	BATF	chr11:55017098-55017251	GM12878	blood:	n/a	n/a
28	BATF	chr11:54993469-54993708	GM12878	blood:	n/a	n/a
29	BATF	chr11:54994433-54994731	GM12878	blood:	n/a	n/a
30	BATF	chr11:55024927-55025127	GM12878	blood:	n/a	n/a
31	BATF	chr11:54995261-54995543	GM12878	blood:	n/a	n/a
32	BATF	chr11:55015341-55015571	GM12878	blood:	n/a	n/a
33	BATF	chr11:55016579-55016914	GM12878	blood:	n/a	n/a
34	BATF	chr11:54995652-54995903	GM12878	blood:	n/a	n/a
35	BATF	chr11:55024818-55025202	GM12878	blood:	n/a	n/a
36	BATF	chr11:55022914-55023156	GM12878	blood:	n/a	n/a
37	BATF	chr11:55008045-55008551	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:55025607-55025773	GM12878	blood:	n/a	n/a
39	BCL11A	chr11:54993493-54993698	GM12878	blood:	n/a	n/a
40	BCL11A	chr11:54993439-54993711	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:55025512-55025873	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:54997331-54997474	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:55027329-55027566	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:55021527-55021954	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:55017103-55017275	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:55017059-55017314	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:55026097-55026292	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:54995655-54995834	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:54995636-54995883	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:55014434-55014749	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:55028287-55028337	HCM	heart:	n/a
2	chr11:55028287-55028337	GM19239	blood:	n/a
3	chr11:55028287-55028337	HepG2	liver:	n/a
4	chr11:55028287-55028337	NT2-D1	testis:	n/a
5	chr11:55028287-55028337	HUVEC	blood vessel:	n/a
6	chr11:55028287-55028337	SKMC	muscle:	n/a
7	chr11:55028287-55028337	HRE	kidney:	n/a
8	chr11:55028287-55028337	AoSMC	blood vessel:	n/a
9	chr11:55028287-55028337	AG10803	skin:	n/a
10	chr11:55028287-55028337	AG09309	skin:	n/a
11	chr11:55028287-55028337	HCT-116	colon:	n/a
12	chr11:55028287-55028337	RPTEC	kidney:	n/a
13	chr11:55028287-55028337	HL-60	blood:	n/a
14	chr11:55028287-55028337	HNPCEpiC	eye:	n/a
15	chr11:55028287-55028337	ECC-1	luminal epithelium:	n/a
16	chr11:55028287-55028337	IMR90	lung:	fetal
17	chr11:55028287-55028337	GM12892	blood:	n/a
18	chr11:55028287-55028337	AG09319	gingival:	n/a
19	chr11:55028287-55028337	Hepatocyte	liver:	n/a
20	chr11:55028287-55028337	GM12878	blood:	n/a
21	chr11:55028287-55028337	SAEC	small airway:	n/a
22	chr11:55028287-55028337	HMEC	breast:	n/a
23	chr11:55028287-55028337	HCF	heart:	n/a
24	chr11:55028287-55028337	K562	blood:	n/a
25	chr11:55028287-55028337	U87	brain:	n/a
26	chr11:55028287-55028337	H1-hESC	embryonic stem cell:	embryo
27	chr11:55028287-55028337	HIPEpiC	eye:	n/a
28	chr11:55028287-55028337	PANC-1	pancreas:	n/a
29	chr11:55028287-55028337	NHBE	bronchial:	n/a
30	chr11:55028287-55028337	NB4	blood:	n/a
31	chr11:55028287-55028337	NHDF-neo	bronchial:	n/a
32	chr11:55028287-55028337	GM12891	blood:	n/a
33	chr11:55028287-55028337	PrEC	prostate:	n/a
34	chr11:55028287-55028337	LNCaP	prostate:	n/a
35	chr11:55028287-55028337	MCF-7	breast:	n/a
36	chr11:55028287-55028337	Jurkat	blood:	n/a
37	chr11:55028287-55028337	Caco-2	colon:	n/a
38	chr11:55028287-55028337	MCF10A-Er-Src	breast:	n/a
39	chr11:55028287-55028337	SK-N-SH	brain:	n/a
40	chr11:55028287-55028337	HCPEpiC	choroid plexus:	n/a
41	chr11:55028287-55028337	GM06990	blood:	n/a
42	chr11:55028287-55028337	HRCEpiC	kidney:	n/a
43	chr11:55028287-55028337	AG04450	lung:	fetal
44	chr11:55028287-55028337	HEEpiC	esophagus:	n/a
45	chr11:55028287-55028337	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:55028287-55028337	BE2_C	brain:	n/a
47	chr11:55028287-55028337	HAEpiC	amniotic membrane:	n/a
48	chr11:55028287-55028337	AG04449	skin:	fetal
49	chr11:55028287-55028337	ovcar-3	ovarian:	n/a
50	chr11:55028287-55028337	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM48	TF binding region
TRIM48	CpG island

Extended variants
information (count: 7560 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:7560 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1841309	chr11:54934563-54934564	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190009844	chr11:54934587-54934588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183201722	chr11:54934612-54934613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530392589	chr11:54934673-54934674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186082822	chr11:54934676-54934677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs564006840	chr11:54934690-54934691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190802009	chr11:54934695-54934696	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552852399	chr11:54934702-54934703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs183901079	chr11:54934703-54934704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532116882	chr11:54934704-54934705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs149409336	chr11:54934709-54934710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs1841308	chr11:54934710-54934711	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs536273278	chr11:54934724-54934725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548170460	chr11:54934731-54934732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187962165	chr11:54934733-54934734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147517437	chr11:54934742-54934743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558332222	chr11:54934791-54934792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574960802	chr11:54936206-54936207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs188034974	chr11:54936219-54936220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145561816	chr11:54936220-54936221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192607422	chr11:54936226-54936227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs562013382	chr11:54936232-54936233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563266301	chr11:54936233-54936234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs573983864	chr11:54936236-54936237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561880183	chr11:54936265-54936266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544379422	chr11:54936287-54936288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs547809101	chr11:54936288-54936289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs112021234	chr11:54936292-54936293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183543346	chr11:54936308-54936309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200029624	chr11:54936310-54936311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543845890	chr11:54936325-54936326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs560561732	chr11:54936338-54936339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs76374986	chr11:54936376-54936377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs527684271	chr11:54936381-54936382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549114490	chr11:54936390-54936391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567578585	chr11:54936391-54936392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377233983	chr11:54940022-54940023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs185450841	chr11:54940023-54940024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552365560	chr11:54940040-54940041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532462302	chr11:54940053-54940054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs547317999	chr11:54940073-54940074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565521025	chr11:54940114-54940115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536079496	chr11:54940131-54940132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs554639622	chr11:54940153-54940154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569053813	chr11:54940158-54940159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570136316	chr11:54940175-54940176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2612195	chr11:54940180-54940181	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs58749765	chr11:54940185-54940186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111707940	chr11:54940187-54940188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111984597	chr11:54940188-54940189	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:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54915800-54934800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:54936200-54936400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr11:54940000-54941200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr11:54940000-54941800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr11:54941000-54943000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:54941400-54942200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:54941600-54942000	Active TSS	Aorta	Aorta
8	chr11:54942000-54944200	Weak transcription	Aorta	Aorta
9	chr11:54942600-54945000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr11:54943200-54945400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr11:54943400-54948200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr11:54944000-54944600	ZNF genes & repeats	Liver	Liver
13	chr11:54944200-54944400	Enhancers	Aorta	Aorta
14	chr11:54944200-54944400	ZNF genes & repeats	Colonic Mucosa	Colon
15	chr11:54944200-54944400	ZNF genes & repeats	Fetal Kidney	kidney
16	chr11:54944200-54944600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr11:54944200-54944600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:54944200-54944600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr11:54944200-54944600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
20	chr11:54944200-54944600	ZNF genes & repeats	Left Ventricle	heart
21	chr11:54944200-54944600	Active TSS	Ovary	ovary
22	chr11:54944200-54944600	Active TSS	Right Atrium	heart
23	chr11:54944200-54944800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr11:54944200-54944800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:54944200-54945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:54946600-54951200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:54948600-54950800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr11:54948800-54951400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr11:54950000-54950600	ZNF genes & repeats	Liver	Liver
30	chr11:54950200-54950800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:54950400-54950600	ZNF genes & repeats	Stomach Mucosa	stomach
32	chr11:54950400-54950800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
33	chr11:54950400-54950800	Active TSS	Ovary	ovary
34	chr11:54950400-54950800	Active TSS	Right Atrium	heart
35	chr11:54950400-54951000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:54950400-54951000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr11:54950800-54951800	Weak transcription	Right Atrium	heart
38	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr11:54951000-54956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr11:54954400-54955200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:54956200-54956400	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr11:54956800-54957800	ZNF genes & repeats	Liver	Liver
46	chr11:54958000-54959000	Active TSS	Right Atrium	heart
47	chr11:54960800-54961600	Weak transcription	NH-A	brain
48	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
49	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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