Variant report

Variant	nsv893651
Chromosome Location	chr9:105371812-105467805
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	CEBPB	chr9:105419506-105419714	H1-hESC	embryonic stem cell:	n/a	chr9:105419583-105419594
2	CEBPB	chr9:105451258-105451490	A549	lung:	n/a	chr9:105451377-105451390
3	CEBPB	chr9:105467730-105467982	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:105463342-105463621	MCF-7	breast:	n/a	chr9:105463430-105463441 chr9:105463428-105463439 chr9:105463428-105463441 chr9:105463430-105463439
5	CEBPB	chr9:105463349-105463604	Hela-S3	cervix:	n/a	chr9:105463430-105463441 chr9:105463428-105463439 chr9:105463428-105463441 chr9:105463430-105463439
6	CEBPB	chr9:105419502-105419691	A549	lung:	n/a	chr9:105419583-105419594
7	CEBPB	chr9:105419439-105419727	HepG2	liver:	n/a	chr9:105419583-105419594
8	CEBPB	chr9:105463254-105463598	HepG2	liver:	n/a	chr9:105463430-105463441 chr9:105463428-105463439 chr9:105463428-105463441 chr9:105463430-105463439
9	CEBPB	chr9:105460889-105461105	HepG2	liver:	n/a	chr9:105461030-105461041
10	CEBPB	chr9:105463218-105463634	MCF-7	breast:	n/a	chr9:105463430-105463441 chr9:105463428-105463439 chr9:105463428-105463441 chr9:105463430-105463439
11	CEBPB	chr9:105393948-105394246	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr9:105463359-105463559	H1-hESC	embryonic stem cell:	n/a	chr9:105463430-105463441 chr9:105463428-105463439 chr9:105463428-105463441 chr9:105463430-105463439
13	CTCF	chr9:105393900-105394050	HFF-Myc	foreskin:	n/a	n/a
14	CTCF	chr9:105393915-105394180	GM12878	blood:	n/a	n/a
15	CTCF	chr9:105393980-105394130	HEK293	kidney:	n/a	n/a
16	CTCF	chr9:105393940-105394090	K562	blood:	n/a	n/a
17	CTCF	chr9:105393980-105394130	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr9:105394020-105394170	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr9:105394000-105394150	GM12873	blood:	n/a	n/a
20	CTCF	chr9:105393960-105394110	K562	blood:	n/a	n/a
21	CTCF	chr9:105393810-105394150	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr9:105394020-105394170	HAc	cerebellar:	n/a	n/a
23	CTCF	chr9:105393980-105394130	HCT-116	colon:	n/a	n/a
24	CTCF	chr9:105394040-105394190	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr9:105393920-105394070	AG10803	skin:	n/a	n/a
26	CTCF	chr9:105394000-105394150	GM12870	blood:	n/a	n/a
27	CTCF	chr9:105393958-105394137	K562	blood:	n/a	n/a
28	CTCF	chr9:105393940-105394090	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr9:105394000-105394150	AG09309	skin:	n/a	n/a
30	CTCF	chr9:105393931-105394149	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr9:105393940-105394090	NHEK	skin:	n/a	n/a
32	CTCF	chr9:105409106-105409142	GM20000	blood:	n/a	n/a
33	CTCF	chr9:105393977-105394107	Medullo	brain:	n/a	n/a
34	CTCF	chr9:105393946-105394101	GM10248	blood:	n/a	n/a
35	CTCF	chr9:105394000-105394150	GM12871	blood:	n/a	n/a
36	CTCF	chr9:105393960-105394110	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr9:105394020-105394170	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr9:105393980-105394130	GM12872	blood:	n/a	n/a
39	CTCF	chr9:105393942-105394119	A549	lung:	n/a	n/a
40	CTCF	chr9:105393920-105394070	BE2_C	brain:	n/a	n/a
41	CTCF	chr9:105394032-105394054	GM20000	blood:	n/a	n/a
42	CTCF	chr9:105394060-105394210	A549	lung:	n/a	n/a
43	CTCF	chr9:105393667-105394340	A549	lung:	n/a	n/a
44	CTCF	chr9:105393940-105394090	GM12865	blood:	n/a	n/a
45	CTCF	chr9:105394280-105394352	GM12891	blood:	n/a	n/a
46	CTCF	chr9:105393920-105394070	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr9:105393980-105394130	GM12870	blood:	n/a	n/a
48	CTCF	chr9:105393920-105394070	HVMF	connective:	n/a	n/a
49	CTCF	chr9:105393920-105394070	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr9:105394000-105394150	HCPEpiC	choroid plexus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:105445858..105448066-chr9:105448589..105451448,2	K562	blood:
2	chr9:105445858..105448066-chr9:105448589..105451448,2	K562	blood:
3	chr9:105434186..105435916-chr9:105436513..105438142,2	K562	blood:
4	chr9:105434186..105435916-chr9:105436513..105438142,2	K562	blood:
5	chr1:107626313..107626823-chr9:105396083..105396967,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIN3A-5	chr9:105373444-105374146	NONHSAT133768
2	lnc-C9orf107-3	chr9:105405413-105405496	ENSG00000204250.3
3	lnc-C9orf107-3	chr9:105405413-105405496	NR_103830
4	lnc-C9orf107-3	chr9:105419558-105419796	ENSG00000204250.3
5	lnc-C9orf107-3	chr9:105419558-105419791	NR_103830
6	lnc-GRIN3A-5	chr9:105374304-105374437	NONHSAT133768

Variant related genes	Relation type
ZYG11AP1	TF binding region

Extended variants
information (count: 308 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1412798	chr9:105373478-105373479	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145217674	chr9:105373479-105373480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs573049949	chr9:105373502-105373503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542316672	chr9:105373517-105373518	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs555439764	chr9:105373518-105373519	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs149141728	chr9:105373548-105373549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs575615939	chr9:105373598-105373599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs544555971	chr9:105373663-105373664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs547000706	chr9:105373670-105373671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs545979636	chr9:105373700-105373701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs540873540	chr9:105373703-105373704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12352031	chr9:105373725-105373726	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375845414	chr9:105373782-105373783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201816384	chr9:105373801-105373802	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs528943571	chr9:105373831-105373832	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs187599381	chr9:105373839-105373840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs112779236	chr9:105373851-105373852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs531366234	chr9:105373867-105373868	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs193211271	chr9:105373884-105373885	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs562073745	chr9:105373919-105373920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs7871766	chr9:105373935-105373936	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs183477618	chr9:105373994-105373995	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs34388937	chr9:105374008-105374009	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567138981	chr9:105374021-105374022	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs535550185	chr9:105374056-105374057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs369576653	chr9:105374082-105374083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs555858072	chr9:105374112-105374113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs373550913	chr9:105374130-105374131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs116396682	chr9:105374140-105374141	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs527547002	chr9:105374315-105374316	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs547310388	chr9:105374317-105374318	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs567327248	chr9:105374352-105374353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs528878464	chr9:105374359-105374360	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs376691007	chr9:105374386-105374387	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs537266432	chr9:105374393-105374394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555566540	chr9:105374408-105374409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs12684181	chr9:105377681-105377682	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539477684	chr9:105377731-105377732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs147896786	chr9:105377734-105377735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs573004127	chr9:105377766-105377767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs141694129	chr9:105377779-105377780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs183762961	chr9:105377795-105377796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs575416331	chr9:105377849-105377850	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200727299	chr9:105377997-105377998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs189301028	chr9:105378012-105378013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs77693976	chr9:105378042-105378043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559324662	chr9:105378061-105378062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528741612	chr9:105378063-105378064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371128301	chr9:105378072-105378073	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs548881440	chr9:105378083-105378084	Inactive region	TF binding region	1 gene(s)	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
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105402400-105403200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr9:105402600-105403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr9:105402600-105403000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:105402600-105403200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:105402600-105403200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:105402600-105403200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:105402600-105403400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:105402800-105403000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr9:105402800-105403200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr9:105402800-105403200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:105402800-105403200	Active TSS	A549	lung
12	chr9:105403000-105404600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:105403200-105403600	Enhancers	A549	lung
14	chr9:105403200-105404600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:105403200-105404600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:105403200-105404600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:105403200-105404600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:105403200-105404800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr9:105403400-105404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:105404200-105405600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr9:105404600-105404800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:105404600-105405000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:105404600-105405200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr9:105404600-105405600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:105404600-105405600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:105404600-105405800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:105404600-105406800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:105404800-105405000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:105404800-105405600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:105405000-105406000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr9:105405200-105405600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr9:105405600-105406600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:105406600-105406800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:105425600-105426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:105425800-105426200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr9:105430600-105431000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:105431600-105432000	Enhancers	Fetal Heart	heart

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