Variant report

Variant	nsv518670
Chromosome Location	chr9:118461823-118597837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:364)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:118517999-118518216	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr9:118503571-118503681	K562	blood:	n/a	n/a
3	CEBPB	chr9:118519781-118520053	A549	lung:	n/a	n/a
4	CEBPB	chr9:118515799-118515801	A549	lung:	n/a	n/a
5	CEBPB	chr9:118515716-118515946	IMR90	lung:	n/a	n/a
6	CEBPB	chr9:118570357-118570825	ECC-1	luminal epithelium:	n/a	chr9:118570563-118570574
7	CEBPB	chr9:118518119-118518336	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr9:118479585-118479911	IMR90	lung:	n/a	n/a
9	CEBPB	chr9:118570407-118570743	IMR90	lung:	n/a	chr9:118570563-118570574
10	CEBPB	chr9:118577968-118578196	HepG2	liver:	n/a	chr9:118578069-118578082 chr9:118578069-118578080
11	CEBPB	chr9:118540672-118540999	HepG2	liver:	n/a	chr9:118540812-118540823
12	CEBPB	chr9:118518171-118518370	IMR90	lung:	n/a	n/a
13	CEBPB	chr9:118541693-118541929	A549	lung:	n/a	chr9:118541787-118541798
14	CEBPB	chr9:118541669-118541898	IMR90	lung:	n/a	chr9:118541787-118541798
15	CEBPB	chr9:118570414-118570730	A549	lung:	n/a	chr9:118570563-118570574
16	CEBPB	chr9:118570403-118570743	HepG2	liver:	n/a	chr9:118570563-118570574
17	CEBPB	chr9:118479654-118479819	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr9:118479618-118479780	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:118487073-118487267	IMR90	lung:	n/a	chr9:118487210-118487221
20	CEBPB	chr9:118497616-118497833	IMR90	lung:	n/a	n/a
21	CEBPB	chr9:118540688-118541003	A549	lung:	n/a	chr9:118540812-118540823
22	CEBPB	chr9:118487074-118487119	K562	blood:	n/a	n/a
23	CEBPB	chr9:118570465-118570688	K562	blood:	n/a	chr9:118570563-118570574
24	CEBPB	chr9:118570363-118570814	A549	lung:	n/a	chr9:118570563-118570574
25	CEBPB	chr9:118541693-118541931	HepG2	liver:	n/a	chr9:118541787-118541798
26	CEBPB	chr9:118570345-118570767	Hela-S3	cervix:	n/a	chr9:118570563-118570574
27	CEBPB	chr9:118570391-118570795	ECC-1	luminal epithelium:	n/a	chr9:118570563-118570574
28	CEBPB	chr9:118566649-118566812	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr9:118518136-118518384	A549	lung:	n/a	n/a
30	CEBPB	chr9:118493269-118493476	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr9:118487060-118487272	HepG2	liver:	n/a	chr9:118487210-118487221
32	CEBPB	chr9:118570443-118570664	MCF-7	breast:	n/a	chr9:118570563-118570574
33	CEBPB	chr9:118570289-118570868	A549	lung:	n/a	chr9:118570563-118570574
34	CEBPB	chr9:118571069-118571377	IMR90	lung:	n/a	n/a
35	CHD2	chr9:118580476-118580646	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr9:118476280-118476430	Caco-2	colon:	n/a	n/a
37	CTCF	chr9:118476280-118476430	AG04450	lung:	n/a	n/a
38	CTCF	chr9:118476280-118476430	AG09319	gingival:	n/a	n/a
39	CTCF	chr9:118577499-118577557	K562	blood:	n/a	n/a
40	CTCF	chr9:118476140-118476290	WI-38	lung:	n/a	n/a
41	CTCF	chr9:118479760-118479910	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr9:118520160-118520310	HCM	heart:	n/a	n/a
43	CTCF	chr9:118520100-118520250	HCM	heart:	n/a	n/a
44	CTCF	chr9:118571140-118571290	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr9:118476280-118476430	HMEC	breast:	n/a	n/a
46	CTCF	chr9:118476260-118476410	HMF	breast:	n/a	n/a
47	CTCF	chr9:118520140-118520290	AG10803	skin:	n/a	n/a
48	CTCF	chr9:118520220-118520370	NHLF	lung:	n/a	n/a
49	CTCF	chr9:118527080-118527230	AoAF	blood vessel:	n/a	chr9:118527167-118527180 chr9:118527160-118527181 chr9:118527165-118527183
50	CTCF	chr9:118475012-118475054	Lung_OC	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:118494597..118496238-chr9:118503561..118505986,2	K562	blood:
2	chr9:118512692..118514781-chr9:118515369..118517078,2	K562	blood:
3	chr9:118516593..118518197-chr9:118519787..118521936,2	K562	blood:
4	chr9:118509972..118511788-chr9:118525893..118528405,2	K562	blood:
5	chr9:118512692..118514781-chr9:118515369..118517078,2	K562	blood:
6	chr9:118509972..118511788-chr9:118525893..118528405,2	K562	blood:
7	chr9:118583667..118585921-chr9:118588912..118591151,2	K562	blood:
8	chr9:118516593..118518197-chr9:118519787..118521936,2	K562	blood:
9	chr9:118583667..118585921-chr9:118588912..118591151,2	K562	blood:
10	chr9:118494597..118496238-chr9:118503561..118505986,2	K562	blood:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNC-3	chr9:118503741-118503841	XLOC_007835
2	lnc-DEC1-4	chr9:118503741-118503843	XLOC_007532
3	lnc-PAPPA-3	chr9:118509907-118510005	XLOC_007533
4	lnc-TNC-3	chr9:118506436-118506518	NR_109805
5	lnc-PAPPA-3	chr9:118506262-118506384	XLOC_007533
6	lnc-DEC1-4	chr9:118501942-118502151	XLOC_007532
7	lnc-DEC1-4	chr9:118506436-118506511	XLOC_007532
8	lnc-TNC-3	chr9:118501942-118502153	ENSG00000228714.2
9	lnc-TNC-3	chr9:118505232-118505348	XLOC_007835
10	lnc-TNC-3	chr9:118496925-118496952	XLOC_007835
11	lnc-TNC-3	chr9:118506436-118506518	ENSG00000228714.2
12	lnc-TNC-3	chr9:118503741-118503841	NR_109805
13	lnc-TNC-3	chr9:118501949-118502153	NR_109805
14	lnc-TNC-3	chr9:118503741-118503841	XLOC_007835
15	lnc-TNC-3	chr9:118503741-118503841	ENSG00000228714.2
16	lnc-TNC-3	chr9:118505232-118505348	XLOC_007835

No data

Variant related genes	Relation type
ENSG00000228714	TF binding region
FAM91A1	miRNA target sites
C15orf57	miRNA target sites
CDK2	miRNA target sites
C16orf70	miRNA target sites
POLE3	miRNA target sites

Extended variants
information (count: 4166 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:4166 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10122438	chr9:118474012-118474013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75537789	chr9:118474092-118474093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559901689	chr9:118474135-118474136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72764749	chr9:118474163-118474164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557168561	chr9:118474165-118474166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545495096	chr9:118474173-118474174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75224246	chr9:118474188-118474189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530922408	chr9:118474198-118474199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182113776	chr9:118474203-118474204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144781159	chr9:118474216-118474217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140090760	chr9:118474219-118474220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547146208	chr9:118474257-118474258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566703299	chr9:118474277-118474278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377236578	chr9:118474294-118474295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370970203	chr9:118474298-118474299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538383791	chr9:118474321-118474322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187820890	chr9:118474360-118474361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145399832	chr9:118474403-118474404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193289492	chr9:118474440-118474441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537802721	chr9:118474452-118474453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554577930	chr9:118474507-118474508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574640902	chr9:118474508-118474509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540448688	chr9:118474538-118474539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564949697	chr9:118474552-118474553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575414324	chr9:118474558-118474559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538619080	chr9:118474579-118474580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533769167	chr9:118474588-118474589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554036328	chr9:118474589-118474590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200225227	chr9:118474590-118474591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150653813	chr9:118474591-118474592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565373471	chr9:118474606-118474607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575549593	chr9:118474638-118474639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544552162	chr9:118474653-118474654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568212952	chr9:118474654-118474655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190433316	chr9:118474664-118474665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530455661	chr9:118474692-118474693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546876056	chr9:118474704-118474705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35636057	chr9:118474728-118474729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs75585661	chr9:118474736-118474737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147277727	chr9:118474773-118474774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4978648	chr9:118474779-118474780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76926524	chr9:118474780-118474781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199749270	chr9:118474810-118474811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533749198	chr9:118474811-118474812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116405232	chr9:118474822-118474823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374232784	chr9:118474879-118474880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199721527	chr9:118474880-118474881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200546206	chr9:118474881-118474882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34284156	chr9:118474889-118474890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535031747	chr9:118474963-118474964	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118474000-118474400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:118474400-118474800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:118474600-118475200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:118474600-118475200	Enhancers	NHEK	skin
5	chr9:118474800-118475000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:118474800-118475200	Enhancers	Placenta	Placenta
7	chr9:118474800-118475400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:118474800-118475600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:118474800-118480600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:118474800-118480800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:118474800-118481000	Enhancers	NHDF-Ad	bronchial
12	chr9:118475000-118476200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr9:118475000-118476200	Enhancers	Osteobl	bone
14	chr9:118475000-118480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:118475200-118477000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:118475800-118476000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr9:118475800-118477200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:118475800-118477200	Enhancers	NHLF	lung
19	chr9:118476000-118479000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:118476200-118476600	Weak transcription	Osteobl	bone
21	chr9:118476600-118476800	Enhancers	Osteobl	bone
22	chr9:118476800-118479200	Weak transcription	Osteobl	bone
23	chr9:118477000-118478800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:118477200-118477600	Enhancers	HSMM	muscle
25	chr9:118477200-118479400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:118477200-118479400	Weak transcription	NHLF	lung
27	chr9:118477600-118479000	Weak transcription	HSMM	muscle
28	chr9:118478200-118478400	Enhancers	HSMMtube	muscle
29	chr9:118478400-118479600	Weak transcription	HSMMtube	muscle
30	chr9:118478800-118480200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:118478800-118480800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:118479000-118480600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:118479000-118480800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr9:118479000-118481000	Enhancers	HSMM	muscle
35	chr9:118479200-118480600	Enhancers	NH-A	brain
36	chr9:118479200-118480600	Enhancers	Osteobl	bone
37	chr9:118479400-118480600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:118479400-118480600	Enhancers	HMEC	breast
39	chr9:118479400-118480600	Enhancers	NHLF	lung
40	chr9:118479600-118480800	Enhancers	HSMMtube	muscle
41	chr9:118480000-118480400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:118480000-118480600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:118480000-118480600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:118480200-118480400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:118481000-118482600	Weak transcription	HSMM	muscle
46	chr9:118481000-118484200	Weak transcription	NHDF-Ad	bronchial
47	chr9:118482600-118482800	Active TSS	HSMM	muscle
48	chr9:118484200-118484800	Enhancers	NHDF-Ad	bronchial
49	chr9:118492000-118494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr9:118492000-118495600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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