Variant report

Variant	nsv893661
Chromosome Location	chr9:105942389-106076270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:274)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr9:106031446-106031635	K562	blood:	n/a	n/a
2	CCNT2	chr9:105966060-105966257	K562	blood:	n/a	n/a
3	CEBPB	chr9:105963250-105963623	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr9:106013991-106014213	A549	lung:	n/a	n/a
5	CEBPB	chr9:106052306-106052573	HepG2	liver:	n/a	chr9:106052407-106052418
6	CEBPB	chr9:106052331-106052547	A549	lung:	n/a	chr9:106052407-106052418
7	CEBPB	chr9:105999665-105999797	A549	lung:	n/a	n/a
8	CEBPB	chr9:106042233-106042464	HepG2	liver:	n/a	chr9:106042358-106042369 chr9:106042357-106042370 chr9:106042357-106042368
9	CEBPB	chr9:106014070-106014116	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr9:105945051-105945183	HepG2	liver:	n/a	chr9:105945124-105945137 chr9:105945126-105945137 chr9:105945124-105945135
11	CHD1	chr9:106014999-106015003	GM12878	blood:	n/a	n/a
12	CTCF	chr9:105949501-105949631	MCF-7	breast:	n/a	n/a
13	CTCF	chr9:105986640-105986735	Fibrobl	skin:	n/a	n/a
14	CTCF	chr9:105977868-105977932	GM20000	blood:	n/a	n/a
15	CTCF	chr9:105981520-105981670	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr9:105972847-105972899	LNCaP	prostate:	n/a	n/a
17	CTCF	chr9:105967200-105967228	GM10248	blood:	n/a	n/a
18	CTCF	chr9:106023671-106023719	GM10266	blood:	n/a	n/a
19	CTCF	chr9:105966887-105966908	LNCaP	prostate:	n/a	n/a
20	CTCF	chr9:105951778-105951877	GM13976	blood:	n/a	n/a
21	CTCF	chr9:105966644-105966721	GM12878	blood:	n/a	chr9:105966662-105966678 chr9:105966663-105966684
22	CTCF	chr9:105968550-105968626	GM13976	blood:	n/a	n/a
23	CTCF	chr9:105977420-105977570	BE2_C	brain:	n/a	n/a
24	CTCF	chr9:105949460-105949610	HepG2	liver:	n/a	n/a
25	CTCF	chr9:106055510-106055619	LNCaP	prostate:	n/a	n/a
26	CTCF	chr9:105999929-105999966	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:106025270-106025310	LNCaP	prostate:	n/a	n/a
28	CTCF	chr9:105968729-105968773	GM13976	blood:	n/a	n/a
29	CTCF	chr9:105986620-105986770	HEK293	kidney:	n/a	n/a
30	CTCF	chr9:106055524-106055623	LNCaP	prostate:	n/a	n/a
31	CTCF	chr9:105949503-105949630	MCF-7	breast:	n/a	n/a
32	CTCF	chr9:106027900-106028050	HVMF	connective:	n/a	n/a
33	E2F4	chr9:105946424-105946592	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr9:106055325-106055521	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr9:106004518-106004718	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr9:106004168-106004866	SK-N-SH	brain:	n/a	chr9:106004567-106004576
37	EP300	chr9:105955864-105956860	SK-N-SH	brain:	n/a	n/a
38	EP300	chr9:105963340-105963581	Hela-S3	cervix:	n/a	n/a
39	EP300	chr9:105956365-105956574	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr9:105945618-105946659	SK-N-SH	brain:	n/a	chr9:105945640-105945654 chr9:105945792-105945801 chr9:105945799-105945807
41	EP300	chr9:105956233-105956601	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr9:105945868-105946328	SK-N-SH_RA	brain:	n/a	n/a
43	EP300	chr9:106004255-106004661	SK-N-SH_RA	brain:	n/a	chr9:106004567-106004576
44	EP300	chr9:105945872-105946298	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr9:106004321-106004654	SK-N-SH_RA	brain:	n/a	chr9:106004567-106004576
46	EP300	chr9:105968829-105969573	SK-N-SH	brain:	n/a	n/a
47	FAM48A	chr9:106041932-106042070	GM12878	blood:	n/a	n/a
48	FOS	chr9:106007777-106008104	MCF10A-Er-Src	breast:	n/a	chr9:106007958-106007969 chr9:106007956-106007966 chr9:106007956-106007966
49	FOS	chr9:106004333-106004739	MCF10A-Er-Src	breast:	n/a	chr9:106004568-106004577 chr9:106004567-106004577 chr9:106004566-106004578 chr9:106004567-106004577 chr9:106004567-106004577
50	FOS	chr9:105946118-105946493	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:105976143..105978580-chr9:106020426..106022404,2	K562	blood:
2	chr9:105943372..105945018-chr9:105950444..105952072,2	MCF-7	breast:
3	chr9:105976143..105978580-chr9:106020426..106022404,2	K562	blood:
4	chr9:106014840..106017109-chr9:106017539..106019637,2	MCF-7	breast:
5	chr9:105943372..105945018-chr9:105950444..105952072,2	MCF-7	breast:
6	chr17:74559597..74561112-chr9:105966073..105968012,2	MCF-7	breast:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR13C4-4	chr9:106026893-106026930	ENSG00000225564
2	lnc-CYLC2-4	chr9:105947254-105947321	NONHSAT133773
3	lnc-OR13C4-4	chr9:106038313-106038430	ENSG00000225564
4	lnc-OR13C4-4	chr9:106039612-106039781	ENSG00000225564
5	lnc-OR13C4-4	chr9:105969455-105969725	ENSG00000225564.2
6	lnc-OR13C4-4	chr9:105989996-105990093	ENSG00000225564.2
7	lnc-OR13C4-4	chr9:106038313-106038430	ENSG00000225564
8	lnc-OR13C4-4	chr9:106015316-106015548	ENSG00000225564.2
9	lnc-OR13C4-4	chr9:106006012-106006068	ENSG00000225564.2
10	lnc-OR13C4-4	chr9:106039612-106039781	ENSG00000225564
11	lnc-CYLC2-4	chr9:105966669-105967391	NONHSAT133773
12	lnc-CYLC2-4	chr9:105964980-105965018	NONHSAT133773
13	lnc-CYLC2-1	chr9:106006007-106006071	NONHSAT133775
14	lnc-CYLC2-4	chr9:105968111-105968844	NONHSAT133773
15	lnc-CYLC2-4	chr9:105967406-105967836	NONHSAT133773
16	lnc-OR13C4-4	chr9:106026806-106026932	ENSG00000225564
17	lnc-OR13C4-4	chr9:106039612-106039781	ENSG00000225564.2
18	lnc-OR13C4-4	chr9:105950328-105950398	ENSG00000225564
19	lnc-CYLC2-1	chr9:106015314-106015452	NONHSAT133775
20	lnc-OR13C4-4	chr9:106038313-106038430	ENSG00000225564.2
21	lnc-OR13C4-4	chr9:105989996-105990093	ENSG00000225564

No data

Variant related genes	Relation type
ENSG00000225564	TF binding region
ENSG00000225564	chromatin interactions

Extended variants
information (count: 1529 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1529 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10990599	chr9:105942389-105942390	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569765003	chr9:105942397-105942398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538896448	chr9:105942402-105942403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4742875	chr9:105942403-105942404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554727916	chr9:105942430-105942431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533802145	chr9:105942432-105942433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184360766	chr9:105942435-105942436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558226806	chr9:105942439-105942440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7868510	chr9:105942496-105942497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554191988	chr9:105942615-105942616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75498753	chr9:105942623-105942624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574149769	chr9:105942627-105942628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543163717	chr9:105942641-105942642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563066325	chr9:105942654-105942655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73499917	chr9:105942737-105942738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10760958	chr9:105942771-105942772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73659678	chr9:105942792-105942793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374933064	chr9:105942823-105942824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145511757	chr9:105942881-105942882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561275044	chr9:105942895-105942896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575119291	chr9:105942901-105942902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530173478	chr9:105942944-105942945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187704767	chr9:105942953-105942954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10124670	chr9:105942954-105942955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113930784	chr9:105942956-105942957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552389226	chr9:105942976-105942977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192741582	chr9:105942988-105942989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534607207	chr9:105943030-105943031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140037511	chr9:105943031-105943032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78009473	chr9:105943060-105943061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537123844	chr9:105943072-105943073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10118822	chr9:105943181-105943182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs75206951	chr9:105943184-105943185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75280831	chr9:105943244-105943245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576908752	chr9:105943252-105943253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376752919	chr9:105943262-105943263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116204329	chr9:105943285-105943286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565478937	chr9:105943288-105943289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572734353	chr9:105943291-105943292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541760113	chr9:105943317-105943318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149849557	chr9:105943337-105943338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530019995	chr9:105943429-105943430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550182678	chr9:105943475-105943476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67300003	chr9:105943494-105943495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532686193	chr9:105943499-105943500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7035230	chr9:105943513-105943514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11399847	chr9:105943530-105943531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386415703	chr9:105943531-105943532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386415704	chr9:105943542-105943543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397824823	chr9:105943543-105943544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105942200-105942400	Active TSS	Pancreas	Pancrea
2	chr9:105942400-105946000	Weak transcription	Pancreas	Pancrea
3	chr9:105945800-105946400	Enhancers	Fetal Muscle Leg	muscle
4	chr9:105946000-105946200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:105946000-105946200	Enhancers	Aorta	Aorta
6	chr9:105946000-105946400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr9:105946000-105946400	Enhancers	Ovary	ovary
8	chr9:105946000-105946400	Enhancers	Pancreas	Pancrea
9	chr9:105946000-105946400	Enhancers	Right Atrium	heart
10	chr9:105946000-105946600	Enhancers	A549	lung
11	chr9:105946200-105949000	Weak transcription	Aorta	Aorta
12	chr9:105946400-105949000	Weak transcription	Ovary	ovary
13	chr9:105946400-105951200	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:105949000-105949600	ZNF genes & repeats	Aorta	Aorta
15	chr9:105949000-105950600	Enhancers	Ovary	ovary
16	chr9:105949600-105950800	Weak transcription	Aorta	Aorta
17	chr9:105950600-105950800	Weak transcription	Ovary	ovary
18	chr9:105950800-105951400	Enhancers	Brain Hippocampus Middle	brain
19	chr9:105950800-105951400	Active TSS	Ovary	ovary
20	chr9:105950800-105951600	Enhancers	Aorta	Aorta
21	chr9:105951000-105951600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:105951200-105951600	Enhancers	Adipose Nuclei	Adipose
23	chr9:105951200-105951600	Enhancers	Brain Anterior Caudate	brain
24	chr9:105951200-105951600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:105951200-105951600	Enhancers	Fetal Muscle Leg	muscle
26	chr9:105951200-105951600	Enhancers	Pancreas	Pancrea
27	chr9:105951200-105951800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr9:105951400-105951600	Flanking Active TSS	Ovary	ovary
29	chr9:105951600-105952000	Enhancers	Ovary	ovary
30	chr9:105966000-105966200	Active TSS	Aorta	Aorta
31	chr9:105966200-105970600	Weak transcription	Aorta	Aorta
32	chr9:105970600-105970800	Enhancers	Aorta	Aorta
33	chr9:105979400-105979600	Enhancers	Aorta	Aorta
34	chr9:105988000-105988600	Enhancers	Ovary	ovary
35	chr9:105988000-105989000	Enhancers	Fetal Brain Male	brain
36	chr9:105999400-106000200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr9:105999600-106000200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr9:105999600-106000400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr9:105999800-106000200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:105999800-106000200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr9:105999800-106000200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr9:105999800-106000200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr9:106000000-106000200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr9:106000200-106004000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr9:106000200-106004200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:106000200-106004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:106000200-106007400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr9:106004000-106004400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:106004200-106004800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:106004400-106005000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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