Variant report

Variant	nsv971926
Chromosome Location	chr11:5542124-5546568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:123)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:5543573-5543895	K562	blood:	n/a	n/a
2	BHLHE40	chr11:5543581-5543923	K562	blood:	n/a	n/a
3	CBX3	chr11:5543531-5543880	K562	blood:	n/a	n/a
4	CTCF	chr11:5542840-5542990	HCT-116	colon:	n/a	n/a
5	CTCF	chr11:5542820-5542970	K562	blood:	n/a	n/a
6	CTCF	chr11:5542860-5543010	GM12873	blood:	n/a	n/a
7	CTCF	chr11:5542820-5542970	GM12872	blood:	n/a	n/a
8	CTCF	chr11:5542878-5543062	K562	blood:	n/a	n/a
9	CTCF	chr11:5542920-5543070	HMF	breast:	n/a	n/a
10	CTCF	chr11:5542840-5542990	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr11:5544440-5544590	GM12873	blood:	n/a	n/a
12	CTCF	chr11:5542820-5542970	HEK293	kidney:	n/a	n/a
13	CTCF	chr11:5542820-5542970	HCFaa	heart:	n/a	n/a
14	CTCF	chr11:5543020-5543170	GM12878	blood:	n/a	n/a
15	CTCF	chr11:5542880-5543030	RPTEC	kidney:	n/a	n/a
16	CTCF	chr11:5542860-5543010	HCT-116	colon:	n/a	n/a
17	CTCF	chr11:5542980-5543130	A549	lung:	n/a	n/a
18	CTCF	chr11:5542860-5543010	HVMF	connective:	n/a	n/a
19	CTCF	chr11:5542840-5542990	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr11:5542920-5543070	K562	blood:	n/a	n/a
21	CTCF	chr11:5542906-5542996	K562	blood:	n/a	n/a
22	ELF1	chr11:5543621-5543978	K562	blood:	n/a	chr11:5543787-5543800
23	EP300	chr11:5543714-5543728	K562	blood:	n/a	n/a
24	FOS	chr11:5543678-5543740	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr11:5542990-5543087	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:5543564-5543803	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr11:5543533-5543871	MCF10A-Er-Src	breast:	n/a	n/a
28	JUN	chr11:5543363-5544109	K562	blood:	n/a	n/a
29	JUND	chr11:5543531-5543896	K562	blood:	n/a	n/a
30	MAX	chr11:5543609-5543822	K562	blood:	n/a	n/a
31	MAX	chr11:5543528-5543930	K562	blood:	n/a	n/a
32	MYC	chr11:5543643-5543764	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr11:5543653-5543853	K562	blood:	n/a	n/a
34	RCOR1	chr11:5543624-5543931	K562	blood:	n/a	n/a
35	STAT3	chr11:5543531-5543873	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr11:5543543-5543870	MCF10A-Er-Src	breast:	n/a	n/a
37	TEAD4	chr11:5543538-5543890	K562	blood:	n/a	n/a
38	USF1	chr11:5543530-5543900	K562	blood:	n/a	n/a
39	ZNF384	chr11:5542898-5543032	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5545506-5545556	HCPEpiC	choroid plexus:	n/a
2	chr11:5545506-5545556	HCPEpiC	choroid plexus:	n/a
3	chr11:5545506-5545556	Hepatocyte	liver:	n/a
4	chr11:5545506-5545556	ProgFib	skin:	n/a
5	chr11:5545506-5545556	AG04450	lung:	fetal
6	chr11:5544358-5544408	HEEpiC	esophagus:	n/a
7	chr11:5544358-5544408	HEK293	kidney:	embryo
8	chr11:5545506-5545556	HCM	heart:	n/a
9	chr11:5545506-5545556	HL-60	blood:	n/a
10	chr11:5545506-5545556	PFSK-1	brain:	n/a
11	chr11:5545506-5545556	MCF-7	breast:	n/a
12	chr11:5544358-5544408	PANC-1	pancreas:	n/a
13	chr11:5544358-5544408	SKMC	muscle:	n/a
14	chr11:5544358-5544408	Hepatocyte	liver:	n/a
15	chr11:5544358-5544408	AG09309	skin:	n/a
16	chr11:5544358-5544408	NB4	blood:	n/a
17	chr11:5544358-5544408	U87	brain:	n/a
18	chr11:5544358-5544408	ovcar-3	ovarian:	n/a
19	chr11:5545506-5545556	PrEC	prostate:	n/a
20	chr11:5544358-5544408	Caco-2	colon:	n/a
21	chr11:5544358-5544408	SK-N-MC	brain:	n/a
22	chr11:5545506-5545556	AG09309	skin:	n/a
23	chr11:5544358-5544408	Hela-S3	cervix:	n/a
24	chr11:5545506-5545556	RPTEC	kidney:	n/a
25	chr11:5544358-5544408	MCF10A-Er-Src	breast:	n/a
26	chr11:5544358-5544408	Jurkat	blood:	n/a
27	chr11:5545506-5545556	AG04449	skin:	fetal
28	chr11:5545506-5545556	LNCaP	prostate:	n/a
29	chr11:5544358-5544408	NH-A	brain:	n/a
30	chr11:5545506-5545556	HAEpiC	amniotic membrane:	n/a
31	chr11:5545506-5545556	HRPEpiC	eye:	n/a
32	chr11:5544358-5544408	IMR90	lung:	fetal
33	chr11:5544358-5544408	HRCEpiC	kidney:	n/a
34	chr11:5545506-5545556	HNPCEpiC	eye:	n/a
35	chr11:5545506-5545556	NH-A	brain:	n/a
36	chr11:5545506-5545556	HEEpiC	esophagus:	n/a
37	chr11:5545506-5545556	MCF10A-Er-Src	breast:	n/a
38	chr11:5544358-5544408	HMEC	breast:	n/a
39	chr11:5545506-5545556	K562	blood:	n/a
40	chr11:5544358-5544408	H1-hESC	embryonic stem cell:	embryo
41	chr11:5544358-5544408	NHDF-neo	bronchial:	n/a
42	chr11:5544358-5544408	ECC-1	luminal epithelium:	n/a
43	chr11:5544358-5544408	HL-60	blood:	n/a
44	chr11:5544358-5544408	LNCaP	prostate:	n/a
45	chr11:5544358-5544408	AG10803	skin:	n/a
46	chr11:5544358-5544408	GM19239	blood:	n/a
47	chr11:5544358-5544408	HRPEpiC	eye:	n/a
48	chr11:5545506-5545556	GM12892	blood:	n/a
49	chr11:5545506-5545556	NHBE	bronchial:	n/a
50	chr11:5545506-5545556	AG09319	gingival:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5540984..5543970-chr11:5665304..5667004,2	K562	blood:
2	chr11:5533910..5536753-chr11:5540691..5545546,5	K562	blood:
3	chr11:5537328..5540013-chr11:5540087..5542360,2	K562	blood:
4	chr11:5523708..5530495-chr11:5543485..5554743,19	K562	blood:
5	chr11:5519637..5522441-chr11:5543101..5545017,2	K562	blood:

No data

Variant related genes	Relation type
UBQLNL	TF binding region
ENSG00000224295	TF binding region
UBQLNL	CpG island
ENSG00000224295	CpG island
ENSG00000196565	chromatin interactions
ENSG00000167355	chromatin interactions
ENSG00000213931	chromatin interactions
ENSG00000175518	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550717503	chr11:5542137-5542138	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150544943	chr11:5542167-5542168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539145020	chr11:5542285-5542286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140261192	chr11:5542291-5542292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530526050	chr11:5542375-5542376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577365112	chr11:5542376-5542377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193298028	chr11:5542399-5542400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185128129	chr11:5542400-5542401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367630531	chr11:5542423-5542424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574498612	chr11:5542486-5542487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541783852	chr11:5542493-5542494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550367252	chr11:5542535-5542536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373770488	chr11:5542551-5542552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142709607	chr11:5542562-5542563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545976610	chr11:5542649-5542650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188776156	chr11:5542712-5542713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35588591	chr11:5542733-5542734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200507623	chr11:5542745-5542746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397733566	chr11:5542750-5542751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371629009	chr11:5542781-5542782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546919468	chr11:5542785-5542786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561936883	chr11:5542800-5542801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528912546	chr11:5542832-5542833	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs570644662	chr11:5542852-5542853	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs11606537	chr11:5542856-5542857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs35486184	chr11:5542866-5542867	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568738015	chr11:5542879-5542880	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs113336803	chr11:5542898-5542899	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539568622	chr11:5542980-5542981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551180488	chr11:5542989-5542990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571036501	chr11:5542995-5542996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12286144	chr11:5543019-5543020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs73392195	chr11:5543034-5543035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181562145	chr11:5543035-5543036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554528461	chr11:5543054-5543055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536969243	chr11:5543095-5543096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149053084	chr11:5543184-5543185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575539266	chr11:5543185-5543186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71053265	chr11:5543206-5543207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79010689	chr11:5543207-5543208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80012217	chr11:5543209-5543210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546287395	chr11:5543245-5543246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574354390	chr11:5543261-5543262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557919340	chr11:5543262-5543263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183877059	chr11:5543263-5543264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188683717	chr11:5543265-5543266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540396107	chr11:5543275-5543276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561849677	chr11:5543402-5543403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529233604	chr11:5543419-5543420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544177493	chr11:5543428-5543429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5536800-5548600	Weak transcription	Pancreas	Pancrea
2	chr11:5539400-5551800	Weak transcription	Ovary	ovary
3	chr11:5542000-5548600	Weak transcription	Aorta	Aorta
4	chr11:5543600-5543800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:5543600-5544200	Enhancers	K562	blood
6	chr11:5545600-5546200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:5545800-5546600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr11:5545800-5546800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:5545800-5547000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr11:5546000-5546200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:5546000-5546400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:5546000-5546400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:5546000-5546600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:5546400-5548800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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