Variant report

Variant	nsv521747
Chromosome Location	chr9:110418574-110441113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr9:110437846-110438034	K562	blood:	n/a	n/a
2	ATF1	chr9:110438310-110438541	K562	blood:	n/a	n/a
3	ATF1	chr9:110431173-110431333	K562	blood:	n/a	n/a
4	BCL3	chr9:110440841-110441200	GM12878	blood:	n/a	n/a
5	BHLHE40	chr9:110438382-110438665	K562	blood:	n/a	n/a
6	BRCA1	chr9:110436721-110436855	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr9:110437187-110437424	A549	lung:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
8	CEBPB	chr9:110437205-110437318	HepG2	liver:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
9	CEBPB	chr9:110437143-110437399	K562	blood:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
10	CEBPB	chr9:110437044-110437416	H1-hESC	embryonic stem cell:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
11	CEBPB	chr9:110437179-110437366	IMR90	lung:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
12	CEBPB	chr9:110437079-110437518	MCF-7	breast:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
13	CEBPB	chr9:110437207-110437320	Hela-S3	cervix:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
14	CEBPB	chr9:110437104-110437450	HepG2	liver:	n/a	chr9:110437270-110437279 chr9:110437268-110437279
15	CTCF	chr9:110437200-110437350	HBMEC	blood vessel:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
16	CTCF	chr9:110437247-110437366	MCF-7	breast:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
17	CTCF	chr9:110437220-110437370	HL-60	blood:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
18	CTCF	chr9:110437300-110437450	Hela-S3	cervix:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
19	CTCF	chr9:110437280-110437430	HFF	foreskin:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
20	CTCF	chr9:110437229-110437369	MCF-7	breast:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
21	CTCF	chr9:110437180-110437330	HFF-Myc	foreskin:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
22	CTCF	chr9:110437260-110437410	HVMF	connective:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
23	CTCF	chr9:110437200-110437350	MCF-7	breast:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
24	CTCF	chr9:110437244-110437378	MCF-7	breast:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
25	CTCF	chr9:110437200-110437350	K562	blood:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
26	CTCF	chr9:110437200-110437350	HCPEpiC	choroid plexus:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
27	CTCF	chr9:110437180-110437330	BJ	skin:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
28	CTCF	chr9:110437240-110437390	NHLF	lung:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
29	CTCF	chr9:110437258-110437336	MCF-7	breast:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
30	CTCF	chr9:110437254-110437357	MCF-7	breast:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
31	CTCF	chr9:110437240-110437390	BJ	skin:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
32	CTCF	chr9:110437260-110437410	NB4	blood:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
33	CTCF	chr9:110437160-110437310	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr9:110437220-110437370	AG09319	gingival:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
35	CTCF	chr9:110437240-110437390	AG09319	gingival:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
36	CTCF	chr9:110437240-110437390	MCF-7	breast:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
37	CTCF	chr9:110437260-110437410	AG10803	skin:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
38	CTCF	chr9:110437180-110437330	HPF	lung:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
39	CTCF	chr9:110422943-110422967	Lung_OC	lung:	n/a	n/a
40	CTCF	chr9:110437220-110437370	AG10803	skin:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
41	CTCF	chr9:110437260-110437410	HCPEpiC	choroid plexus:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
42	CTCF	chr9:110437220-110437370	GM12865	blood:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
43	CTCF	chr9:110420443-110420473	LNCaP	prostate:	n/a	n/a
44	CTCF	chr9:110437200-110437350	HCT-116	colon:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
45	CTCF	chr9:110435391-110435421	LNCaP	prostate:	n/a	n/a
46	CTCF	chr9:110432750-110432889	K562	blood:	n/a	n/a
47	CTCF	chr9:110437180-110437330	NHDF-neo	bronchial:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
48	CTCF	chr9:110437220-110437370	NHDF-neo	bronchial:	n/a	chr9:110437311-110437329 chr9:110437314-110437323
49	E2F6	chr9:110430066-110430180	K562	blood:	n/a	chr9:110430125-110430132 chr9:110430124-110430136 chr9:110430125-110430132 chr9:110430125-110430132
50	GTF2F1	chr9:110436875-110437003	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:110439609..110441798-chr9:110442370..110444271,2	MCF-7	breast:
2	chr9:110425959..110427637-chr9:110435730..110438629,2	MCF-7	breast:
3	chr9:110434606..110437399-chr9:110437465..110439039,2	MCF-7	breast:
4	chr9:110429198..110431550-chr9:110446685..110449581,2	K562	blood:
5	chr9:110425959..110427637-chr9:110435730..110438629,2	MCF-7	breast:
6	chr9:110434606..110437399-chr9:110437465..110439039,2	MCF-7	breast:
7	chr9:110247289..110249056-chr9:110417408..110419727,2	MCF-7	breast:
8	chr9:110422278..110425176-chr9:110442669..110445406,2	MCF-7	breast:
9	chr9:110428302..110430698-chr9:110445518..110448185,2	K562	blood:

Variant related genes	Relation type
RNU6-996P	TF binding region

Extended variants
information (count: 949 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7849612	chr9:110418574-110418575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566651534	chr9:110418638-110418639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28545042	chr9:110418645-110418646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560292619	chr9:110418660-110418661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113081134	chr9:110418678-110418679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541837951	chr9:110418794-110418795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369642825	chr9:110418799-110418800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569776736	chr9:110418814-110418815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554552850	chr9:110418822-110418823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572756195	chr9:110418861-110418862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142894910	chr9:110418871-110418872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373039141	chr9:110418873-110418874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76946202	chr9:110418926-110418927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28410234	chr9:110418928-110418929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28756961	chr9:110418948-110418949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs75793229	chr9:110418967-110418968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10978972	chr9:110418989-110418990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs558449568	chr9:110418994-110418995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573440835	chr9:110419076-110419077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148039080	chr9:110419088-110419089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374581489	chr9:110419090-110419091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115300771	chr9:110419108-110419109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552017069	chr9:110419164-110419165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141454596	chr9:110419186-110419187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116777205	chr9:110419215-110419216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545576803	chr9:110419216-110419217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187959641	chr9:110419252-110419253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13440356	chr9:110419280-110419281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535472561	chr9:110419299-110419300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180918923	chr9:110419332-110419333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201504570	chr9:110419388-110419389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80047535	chr9:110419389-110419390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75955487	chr9:110419537-110419538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150859323	chr9:110419538-110419539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10978974	chr9:110419626-110419627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11790667	chr9:110419649-110419650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371670927	chr9:110419696-110419697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139500317	chr9:110419705-110419706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56372522	chr9:110419777-110419778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144231487	chr9:110419836-110419837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185322819	chr9:110419934-110419935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7029376	chr9:110419935-110419936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533127651	chr9:110419960-110419961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188473696	chr9:110420002-110420003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117410171	chr9:110420038-110420039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531454309	chr9:110420055-110420056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181387069	chr9:110420085-110420086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57141826	chr9:110420114-110420115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568097648	chr9:110420126-110420127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7029428	chr9:110420189-110420190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110413000-110437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110425400-110426000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:110425400-110426000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:110425800-110426200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:110426000-110435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:110427200-110427400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:110427200-110427600	Enhancers	HSMMtube	muscle
8	chr9:110427200-110427600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr9:110427400-110427600	Enhancers	Fetal Stomach	stomach
10	chr9:110427600-110429200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:110427600-110429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:110427600-110429600	Weak transcription	HSMMtube	muscle
13	chr9:110429200-110429800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr9:110429200-110429800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr9:110429200-110430600	Enhancers	Fetal Muscle Trunk	muscle
16	chr9:110429200-110430600	Enhancers	Fetal Muscle Leg	muscle
17	chr9:110429400-110429800	Enhancers	Right Atrium	heart
18	chr9:110429400-110430000	Enhancers	Placenta	Placenta
19	chr9:110429400-110430000	Enhancers	Spleen	Spleen
20	chr9:110429400-110430400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:110429400-110430400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:110429400-110430400	Enhancers	Fetal Lung	lung
23	chr9:110429400-110430400	Enhancers	Fetal Stomach	stomach
24	chr9:110429400-110430600	Enhancers	Brain Hippocampus Middle	brain
25	chr9:110429400-110430600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:110429600-110430000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:110429600-110430200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:110429600-110430200	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:110429600-110430400	Enhancers	Brain Angular Gyrus	brain
30	chr9:110429600-110430400	Enhancers	HSMMtube	muscle
31	chr9:110429600-110430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:110429600-110430600	Enhancers	Adipose Nuclei	Adipose
33	chr9:110429600-110430600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr9:110429600-110430600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:110429600-110430600	Enhancers	Brain Substantia Nigra	brain
36	chr9:110429600-110430800	Enhancers	HUVEC	blood vessel
37	chr9:110429600-110431200	Enhancers	Left Ventricle	heart
38	chr9:110429800-110430200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:110429800-110430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:110429800-110430400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:110429800-110430400	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:110429800-110430400	Enhancers	HSMM	muscle
43	chr9:110430200-110430600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr9:110430400-110435800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr9:110430600-110431800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:110430600-110436200	Weak transcription	Fetal Muscle Leg	muscle
47	chr9:110431800-110432000	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:110435600-110436000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr9:110435600-110436400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:110435600-110436800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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