Variant report

Variant	nsv554739
Chromosome Location	chr11:54943575-55028309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1365)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1365 , 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	chr11:54944326-54944655	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:55026236-55026614	HepG2	liver:	n/a	n/a
3	ATF1	chr11:54944286-54944657	K562	blood:	n/a	n/a
4	ATF1	chr11:54997083-54997606	K562	blood:	n/a	n/a
5	ATF1	chr11:55019501-55019863	K562	blood:	n/a	n/a
6	ATF1	chr11:55025562-55025910	K562	blood:	n/a	n/a
7	ATF1	chr11:54961546-54961918	K562	blood:	n/a	n/a
8	ATF1	chr11:55026235-55026613	K562	blood:	n/a	n/a
9	BACH1	chr11:54965393-54965420	K562	blood:	n/a	n/a
10	BACH1	chr11:54997720-54998094	K562	blood:	n/a	n/a
11	BACH1	chr11:55023515-55023741	K562	blood:	n/a	n/a
12	BATF	chr11:54995261-54995543	GM12878	blood:	n/a	n/a
13	BATF	chr11:55025599-55025897	GM12878	blood:	n/a	n/a
14	BATF	chr11:55000059-55000268	GM12878	blood:	n/a	n/a
15	BATF	chr11:54975053-54975273	GM12878	blood:	n/a	n/a
16	BATF	chr11:54994433-54994731	GM12878	blood:	n/a	n/a
17	BATF	chr11:54995653-54995836	GM12878	blood:	n/a	n/a
18	BATF	chr11:55026320-55026550	GM12878	blood:	n/a	n/a
19	BATF	chr11:55024927-55025127	GM12878	blood:	n/a	n/a
20	BATF	chr11:54993502-54993709	GM12878	blood:	n/a	n/a
21	BATF	chr11:55000026-55000210	GM12878	blood:	n/a	n/a
22	BATF	chr11:55024818-55025202	GM12878	blood:	n/a	n/a
23	BATF	chr11:54990182-54990428	GM12878	blood:	n/a	n/a
24	BATF	chr11:55026006-55026557	GM12878	blood:	n/a	n/a
25	BATF	chr11:55015341-55015571	GM12878	blood:	n/a	n/a
26	BATF	chr11:55008045-55008551	GM12878	blood:	n/a	n/a
27	BATF	chr11:55014461-55014721	GM12878	blood:	n/a	n/a
28	BATF	chr11:55017098-55017251	GM12878	blood:	n/a	n/a
29	BATF	chr11:55016579-55016914	GM12878	blood:	n/a	n/a
30	BATF	chr11:55015283-55015573	GM12878	blood:	n/a	n/a
31	BATF	chr11:55022914-55023156	GM12878	blood:	n/a	n/a
32	BATF	chr11:54993469-54993708	GM12878	blood:	n/a	n/a
33	BATF	chr11:55027264-55027610	GM12878	blood:	n/a	n/a
34	BATF	chr11:55016992-55017300	GM12878	blood:	n/a	n/a
35	BATF	chr11:55027309-55027604	GM12878	blood:	n/a	n/a
36	BATF	chr11:54995652-54995903	GM12878	blood:	n/a	n/a
37	BCL11A	chr11:54994518-54994736	GM12878	blood:	n/a	n/a
38	BCL11A	chr11:54995655-54995834	GM12878	blood:	n/a	n/a
39	BCL11A	chr11:55017059-55017314	GM12878	blood:	n/a	n/a
40	BCL11A	chr11:55027329-55027566	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:55027304-55027631	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:55000051-55000252	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:55026097-55026292	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:55024935-55025184	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:54995636-54995883	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:54997331-54997474	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:55015335-55015565	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:54993439-54993711	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:55021527-55021954	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:55017103-55017275	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	NT2-D1	testis:	n/a
2	chr11:55028287-55028337	HL-60	blood:	n/a
3	chr11:55028287-55028337	HIPEpiC	eye:	n/a
4	chr11:55028287-55028337	HCM	heart:	n/a
5	chr11:55028287-55028337	SK-N-SH_RA	brain:	n/a
6	chr11:55028287-55028337	SKMC	muscle:	n/a
7	chr11:55028287-55028337	AG09309	skin:	n/a
8	chr11:55028287-55028337	SK-N-SH	brain:	n/a
9	chr11:55028287-55028337	T-47D	breast:	n/a
10	chr11:55028287-55028337	GM19239	blood:	n/a
11	chr11:55028287-55028337	K562	blood:	n/a
12	chr11:55028287-55028337	IMR90	lung:	fetal
13	chr11:55028287-55028337	ovcar-3	ovarian:	n/a
14	chr11:55028287-55028337	ProgFib	skin:	n/a
15	chr11:55028287-55028337	HEK293	kidney:	embryo
16	chr11:55028287-55028337	HCPEpiC	choroid plexus:	n/a
17	chr11:55028287-55028337	AoSMC	blood vessel:	n/a
18	chr11:55028287-55028337	NH-A	brain:	n/a
19	chr11:55028287-55028337	GM12878	blood:	n/a
20	chr11:55028287-55028337	GM12891	blood:	n/a
21	chr11:55028287-55028337	RPTEC	kidney:	n/a
22	chr11:55028287-55028337	HepG2	liver:	n/a
23	chr11:55028287-55028337	AG04449	skin:	fetal
24	chr11:55028287-55028337	SK-N-MC	brain:	n/a
25	chr11:55028287-55028337	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:55028287-55028337	LNCaP	prostate:	n/a
27	chr11:55028287-55028337	AG10803	skin:	n/a
28	chr11:55028287-55028337	Hepatocyte	liver:	n/a
29	chr11:55028287-55028337	A549	lung:	n/a
30	chr11:55028287-55028337	ECC-1	luminal epithelium:	n/a
31	chr11:55028287-55028337	MCF10A-Er-Src	breast:	n/a
32	chr11:55028287-55028337	CMK	blood:	n/a
33	chr11:55028287-55028337	PFSK-1	brain:	n/a
34	chr11:55028287-55028337	PANC-1	pancreas:	n/a
35	chr11:55028287-55028337	HRCEpiC	kidney:	n/a
36	chr11:55028287-55028337	NB4	blood:	n/a
37	chr11:55028287-55028337	NHDF-neo	bronchial:	n/a
38	chr11:55028287-55028337	HAEpiC	amniotic membrane:	n/a
39	chr11:55028287-55028337	HUVEC	blood vessel:	n/a
40	chr11:55028287-55028337	HRE	kidney:	n/a
41	chr11:55028287-55028337	HEEpiC	esophagus:	n/a
42	chr11:55028287-55028337	Hela-S3	cervix:	n/a
43	chr11:55028287-55028337	GM12892	blood:	n/a
44	chr11:55028287-55028337	AG09319	gingival:	n/a
45	chr11:55028287-55028337	GM06990	blood:	n/a
46	chr11:55028287-55028337	NHBE	bronchial:	n/a
47	chr11:55028287-55028337	MCF-7	breast:	n/a
48	chr11:55028287-55028337	AG04450	lung:	fetal
49	chr11:55028287-55028337	U87	brain:	n/a
50	chr11:55028287-55028337	Caco-2	colon:	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: 7183 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:7183 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11227577	chr11:54943575-54943576	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113002080	chr11:54943587-54943588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376110063	chr11:54943593-54943594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370731409	chr11:54943594-54943595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374741137	chr11:54943595-54943596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398115389	chr11:54943596-54943597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115066663	chr11:54943598-54943599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541669206	chr11:54943605-54943606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563769269	chr11:54943613-54943614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531048601	chr11:54943622-54943623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552738105	chr11:54943623-54943624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570849415	chr11:54943636-54943637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528541465	chr11:54943647-54943648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112866820	chr11:54943675-54943676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35563115	chr11:54943676-54943677	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191480948	chr11:54943688-54943689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183584591	chr11:54943700-54943701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2571202	chr11:54943722-54943723	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138435393	chr11:54943740-54943741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188522298	chr11:54943742-54943743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191388557	chr11:54943750-54943751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558273310	chr11:54943754-54943755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576429041	chr11:54943764-54943765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536911342	chr11:54943809-54943810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11532057	chr11:54943812-54943813	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112332055	chr11:54943819-54943820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138428408	chr11:54943828-54943829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143726950	chr11:54943837-54943838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144699658	chr11:54943846-54943847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77646218	chr11:54943874-54943875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556870425	chr11:54943880-54943881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146983300	chr11:54943893-54943894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201876845	chr11:54943904-54943905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374521815	chr11:54943907-54943908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576026184	chr11:54943908-54943909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111342700	chr11:54943910-54943911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368918845	chr11:54943921-54943922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112082975	chr11:54943923-54943924	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113841762	chr11:54943925-54943926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386753633	chr11:54943926-54943927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201146274	chr11:54943930-54943931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202037922	chr11:54943931-54943932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112407536	chr11:54943933-54943934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373168688	chr11:54943935-54943936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2196192	chr11:54943938-54943939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370515667	chr11:54943939-54943940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200520857	chr11:54943943-54943944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111690232	chr11:54943945-54943946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113097996	chr11:54943950-54943951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545075070	chr11:54943965-54943966	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:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54942000-54944200	Weak transcription	Aorta	Aorta
2	chr11:54942600-54945000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr11:54943200-54945400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:54943400-54948200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:54944000-54944600	ZNF genes & repeats	Liver	Liver
6	chr11:54944200-54944400	Enhancers	Aorta	Aorta
7	chr11:54944200-54944400	ZNF genes & repeats	Colonic Mucosa	Colon
8	chr11:54944200-54944400	ZNF genes & repeats	Fetal Kidney	kidney
9	chr11:54944200-54944600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr11:54944200-54944600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:54944200-54944600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
12	chr11:54944200-54944600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
13	chr11:54944200-54944600	ZNF genes & repeats	Left Ventricle	heart
14	chr11:54944200-54944600	Active TSS	Ovary	ovary
15	chr11:54944200-54944600	Active TSS	Right Atrium	heart
16	chr11:54944200-54944800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr11:54944200-54944800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:54944200-54945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:54946600-54951200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:54948600-54950800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr11:54948800-54951400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:54950000-54950600	ZNF genes & repeats	Liver	Liver
23	chr11:54950200-54950800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:54950400-54950600	ZNF genes & repeats	Stomach Mucosa	stomach
25	chr11:54950400-54950800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr11:54950400-54950800	Active TSS	Ovary	ovary
27	chr11:54950400-54950800	Active TSS	Right Atrium	heart
28	chr11:54950400-54951000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:54950400-54951000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
30	chr11:54950800-54951800	Weak transcription	Right Atrium	heart
31	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr11:54951000-54956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr11:54954400-54955200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:54956200-54956400	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr11:54956800-54957800	ZNF genes & repeats	Liver	Liver
39	chr11:54958000-54959000	Active TSS	Right Atrium	heart
40	chr11:54960800-54961600	Weak transcription	NH-A	brain
41	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
42	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:54961600-54961800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:54961600-54961800	ZNF genes & repeats	Gastric	stomach
48	chr11:54961600-54961800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
49	chr11:54961600-54961800	ZNF genes & repeats	HMEC	breast
50	chr11:54961600-54961800	ZNF genes & repeats	NHLF	lung

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