Variant report

Variant	nsv6590
Chromosome Location	chr9:86435603-86480442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:86464911-86465156	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:86464843-86465149	GM12878	blood:	n/a	n/a
3	CEBPB	chr9:86437426-86437435	HepG2	liver:	n/a	n/a
4	CTCF	chr9:86454696-86454780	Gliobla	brain:	n/a	n/a
5	CTCF	chr9:86452071-86452313	A549	lung:	n/a	n/a
6	CTCF	chr9:86452248-86452254	GM20000	blood:	n/a	n/a
7	CTCF	chr9:86452000-86452150	AG09309	skin:	n/a	n/a
8	CTCF	chr9:86452076-86452291	LNCaP	prostate:	n/a	n/a
9	CTCF	chr9:86454716-86454758	ProgFib	skin:	n/a	n/a
10	CTCF	chr9:86451992-86452310	Gliobla	brain:	n/a	n/a
11	CTCF	chr9:86452020-86452170	AG04450	lung:	n/a	n/a
12	CTCF	chr9:86451977-86451980	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr9:86451810-86451834	GM13977	blood:	n/a	n/a
14	CTCF	chr9:86445813-86445842	K562	blood:	n/a	n/a
15	CTCF	chr9:86454697-86454797	K562	blood:	n/a	n/a
16	CTCF	chr9:86445700-86445850	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr9:86452004-86452337	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr9:86452104-86452304	K562	blood:	n/a	n/a
19	CTCF	chr9:86451995-86452081	GM12892	blood:	n/a	n/a
20	CTCF	chr9:86452122-86452250	GM13976	blood:	n/a	n/a
21	CTCF	chr9:86451963-86452393	A549	lung:	n/a	n/a
22	CTCF	chr9:86451943-86452279	A549	lung:	n/a	n/a
23	CTCF	chr9:86452002-86452307	Lung_OC	lung:	n/a	n/a
24	CTCF	chr9:86445720-86445870	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr9:86445700-86445850	MCF-7	breast:	n/a	n/a
26	CTCF	chr9:86452006-86452301	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr9:86445720-86445870	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr9:86448200-86448244	MCF-7	breast:	n/a	n/a
29	CTCF	chr9:86454640-86454790	HFF	foreskin:	n/a	n/a
30	CTCF	chr9:86452055-86452059	LNCaP	prostate:	n/a	n/a
31	CTCF	chr9:86452077-86452283	GM10266	blood:	n/a	n/a
32	CTCF	chr9:86454695-86454722	GM20000	blood:	n/a	n/a
33	CTCF	chr9:86451970-86452282	GM10248	blood:	n/a	n/a
34	CTCF	chr9:86445720-86445870	AG04450	lung:	n/a	n/a
35	CTCF	chr9:86454640-86454790	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr9:86454640-86454790	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr9:86452031-86452305	K562	blood:	n/a	n/a
38	CTCF	chr9:86436457-86436501	GM10248	blood:	n/a	n/a
39	CTCF	chr9:86443788-86443842	GM10248	blood:	n/a	n/a
40	CTCF	chr9:86445740-86445890	BE2_C	brain:	n/a	n/a
41	CTCF	chr9:86452015-86452102	GM19238	blood:	n/a	n/a
42	CTCF	chr9:86445620-86445770	HFF	foreskin:	n/a	n/a
43	CTCF	chr9:86472335-86472354	LNCaP	prostate:	n/a	n/a
44	CTCF	chr9:86452102-86452314	GM12878	blood:	n/a	n/a
45	CTCF	chr9:86451999-86452392	A549	lung:	n/a	n/a
46	CTCF	chr9:86454640-86454790	HMEC	breast:	n/a	n/a
47	CTCF	chr9:86452071-86452295	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr9:86445720-86445870	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:86451980-86452130	HMEC	breast:	n/a	n/a
50	CTCF	chr9:86452022-86452297	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:86320718..86323719-chr9:86450162..86455199,6	MCF-7	breast:
2	chr9:86321607..86323730-chr9:86445405..86447358,2	MCF-7	breast:
3	chr9:86236750..86239117-chr9:86447566..86449894,2	MCF-7	breast:
4	chr9:86468995..86471879-chr9:86534830..86536450,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RMI1-5	chr9:86473893-86474075	ENSG00000231616.4
2	lnc-RMI1-5	chr9:86474193-86474240	ENSG00000231616.4
3	lnc-RMI1-5	chr9:86474492-86475013	ENSG00000231616.4
4	lnc-RMI1-5	chr9:86451945-86452058	ENSG00000226877.1
5	lnc-RMI1-5	chr9:86469971-86470092	ENSG00000231616.4
6	lnc-RMI1-5	chr9:86452587-86452779	ENSG00000226877.1
7	lnc-RMI1-5	chr9:86474193-86474250	ENSG00000231616.4
8	lnc-RMI1-5	chr9:86463801-86463870	ENSG00000231616.4
9	lnc-RMI1-5	chr9:86446478-86446527	ENSG00000226877.1
10	lnc-RMI1-5	chr9:86451945-86452058	ENSG00000226877.1
11	lnc-RMI1-5	chr9:86462573-86462823	ENSG00000231616.4
12	lnc-RMI1-5	chr9:86446475-86446527	ENSG00000226877.1
13	lnc-RMI1-5	chr9:86473779-86474070	ENSG00000231616.4
14	lnc-RMI1-5	chr9:86464287-86464506	ENSG00000231616.4
15	lnc-RMI1-6	chr9:86442823-86443094	NONHSAT132748
16	lnc-RMI1-5	chr9:86463753-86463870	ENSG00000231616.4
17	lnc-RMI1-5	chr9:86473779-86474075	ENSG00000231616.4
18	lnc-RMI1-5	chr9:86464287-86464506	ENSG00000231616.4
19	lnc-RMI1-5	chr9:86474193-86474240	ENSG00000231616.4
20	lnc-RMI1-5	chr9:86473216-86474075	ENSG00000231616.4
21	lnc-RMI1-5	chr9:86445783-86445854	ENSG00000226877.1
22	lnc-RMI1-5	chr9:86452323-86452500	ENSG00000226877.1
23	lnc-RMI1-5	chr9:86464323-86464506	ENSG00000231616.4
24	lnc-RMI1-5	chr9:86473756-86474075	ENSG00000231616.4
25	lnc-RMI1-5	chr9:86463725-86463870	ENSG00000231616.4
26	lnc-RMI1-5	chr9:86446478-86446527	ENSG00000226877.3
27	lnc-RMI1-5	chr9:86450466-86450620	ENSG00000226877.1
28	lnc-RMI1-5	chr9:86474193-86474240	ENSG00000231616.4
29	lnc-RMI1-5	chr9:86452587-86452776	ENSG00000226877.3
30	lnc-RMI1-5	chr9:86473893-86474075	ENSG00000231616.4
31	lnc-RMI1-5	chr9:86451945-86452058	ENSG00000226877.3
32	lnc-RMI1-5	chr9:86474492-86474795	ENSG00000231616.4
33	lnc-RMI1-5	chr9:86446480-86446527	ENSG00000226877.1
34	lnc-RMI1-6	chr9:86442823-86443087	ENSG00000245608
35	lnc-RMI1-5	chr9:86452323-86452502	ENSG00000226877.1
36	lnc-RMI1-5	chr9:86473779-86474069	ENSG00000231616.4
37	lnc-RMI1-5	chr9:86474193-86474250	ENSG00000231616.4
38	lnc-RMI1-5	chr9:86444571-86444630	ENSG00000226877.1
39	lnc-RMI1-5	chr9:86451945-86452058	ENSG00000226877.1

No data

Variant related genes	Relation type
ENSG00000226877	TF binding region
ENSG00000231616	TF binding region
GKAP1	TF binding region
ENSG00000135018	chromatin interactions
ENSG00000254473	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000148057	chromatin interactions
PDS5B	miRNA target sites

Extended variants
information (count: 1453 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1453 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535247452	chr9:86437429-86437430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs13288016	chr9:86439733-86439734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs13286876	chr9:86439736-86439737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs117497396	chr9:86439737-86439738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs13286879	chr9:86439745-86439746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs13287286	chr9:86439779-86439780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570820034	chr9:86439785-86439786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs13286894	chr9:86439803-86439804	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs148496239	chr9:86439807-86439808	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs13286905	chr9:86439817-86439818	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571160664	chr9:86439868-86439869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs13287434	chr9:86439869-86439870	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558159337	chr9:86439920-86439921	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570049102	chr9:86439942-86439943	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs13287228	chr9:86439951-86439952	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs13288363	chr9:86439967-86439968	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs555801086	chr9:86439990-86439991	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs555563551	chr9:86440000-86440001	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs60349318	chr9:86440033-86440034	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs151074619	chr9:86440048-86440049	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs556603226	chr9:86440055-86440056	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184922173	chr9:86440062-86440063	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs13288530	chr9:86440066-86440067	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577947933	chr9:86440073-86440074	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs13287763	chr9:86440095-86440096	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs190901808	chr9:86440108-86440109	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs13287522	chr9:86440109-86440110	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563550645	chr9:86440146-86440147	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs13287648	chr9:86440177-86440178	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530846729	chr9:86440255-86440256	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140982276	chr9:86440271-86440272	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs144852165	chr9:86440313-86440314	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs528148186	chr9:86440325-86440326	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs118040039	chr9:86440364-86440365	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs571361967	chr9:86440365-86440366	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531998623	chr9:86440409-86440410	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550579181	chr9:86440437-86440438	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs111871204	chr9:86440448-86440449	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs529135871	chr9:86440459-86440460	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542870843	chr9:86440483-86440484	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537364400	chr9:86440537-86440538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555500047	chr9:86440591-86440592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562660372	chr9:86440592-86440593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147923016	chr9:86440598-86440599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369160274	chr9:86441145-86441146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550127459	chr9:86441178-86441179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs111778999	chr9:86441206-86441207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs557974821	chr9:86442823-86442824	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs2780119	chr9:86442839-86442840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs558422108	chr9:86442847-86442848	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Melanoma	18172304	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86439800-86440400	Enhancers	Osteobl	bone
2	chr9:86440000-86440400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr9:86440000-86440400	Enhancers	A549	lung
4	chr9:86440200-86440400	Enhancers	NH-A	brain
5	chr9:86440200-86440400	Flanking Active TSS	NHDF-Ad	bronchial
6	chr9:86440200-86440600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:86447800-86461200	Weak transcription	Fetal Brain Female	brain
8	chr9:86447800-86470800	Weak transcription	Brain Germinal Matrix	brain
9	chr9:86448600-86458800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:86452000-86467800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:86452200-86464000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:86453400-86461200	Weak transcription	Fetal Intestine Large	intestine
13	chr9:86454400-86461200	Weak transcription	Primary T cells from cord blood	blood
14	chr9:86455400-86461200	Weak transcription	Dnd41	blood
15	chr9:86455400-86461400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:86456000-86458600	Weak transcription	Fetal Intestine Small	intestine
17	chr9:86456000-86458600	Weak transcription	Fetal Stomach	stomach
18	chr9:86456000-86461000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:86456000-86463600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:86456200-86466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:86456600-86472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:86456800-86463200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:86457000-86464000	Weak transcription	Left Ventricle	heart
24	chr9:86457400-86461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:86457400-86461200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:86457400-86461200	Weak transcription	Brain Anterior Caudate	brain
27	chr9:86457400-86461200	Weak transcription	Fetal Lung	lung
28	chr9:86457400-86461200	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:86457400-86461200	Weak transcription	Lung	lung
30	chr9:86457400-86461400	Weak transcription	Fetal Thymus	thymus
31	chr9:86457400-86461600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:86457400-86461800	Weak transcription	Fetal Brain Male	brain
33	chr9:86457400-86464200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:86457400-86468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:86457400-86469000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr9:86457600-86464000	Weak transcription	Pancreas	Pancrea
37	chr9:86458000-86463600	Weak transcription	Esophagus	oesophagus
38	chr9:86458600-86459400	Strong transcription	Fetal Intestine Small	intestine
39	chr9:86458600-86462800	Strong transcription	Fetal Stomach	stomach
40	chr9:86458800-86459200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:86459000-86460800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr9:86459000-86461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:86459200-86460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:86459400-86461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:86459400-86461000	Weak transcription	Fetal Intestine Small	intestine
46	chr9:86459400-86461200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:86459400-86461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:86459400-86461200	Weak transcription	Liver	Liver
49	chr9:86459400-86461200	Weak transcription	Gastric	stomach
50	chr9:86459600-86461200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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