Variant report

Variant	nsv892840
Chromosome Location	chr9:25867219-26034314
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	ATF2	chr9:25964175-25964579	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr9:25964148-25964571	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:25876386-25876471	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr9:25917894-25918212	A549	lung:	n/a	chr9:25918064-25918075 chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918062-25918075 chr9:25918064-25918073
5	CEBPB	chr9:26033374-26033757	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr9:25892598-25892761	A549	lung:	n/a	chr9:25892682-25892693
7	CEBPB	chr9:25917911-25918227	IMR90	lung:	n/a	chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918075 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918064-25918073
8	CEBPB	chr9:25892564-25892852	HepG2	liver:	n/a	chr9:25892682-25892693
9	CEBPB	chr9:25892638-25892790	IMR90	lung:	n/a	chr9:25892682-25892693
10	CEBPB	chr9:25917593-25918410	Hela-S3	cervix:	n/a	chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918075 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918064-25918073
11	CEBPB	chr9:25917881-25918235	HepG2	liver:	n/a	chr9:25918064-25918073 chr9:25918062-25918073 chr9:25918062-25918075 chr9:25918064-25918075 chr9:25918062-25918075 chr9:25918064-25918073 chr9:25918064-25918073 chr9:25918064-25918073
12	CTCF	chr9:25964280-25964430	NHLF	lung:	n/a	n/a
13	CTCF	chr9:25964277-25964372	K562	blood:	n/a	n/a
14	CTCF	chr9:25964280-25964430	GM12871	blood:	n/a	n/a
15	CTCF	chr9:25964300-25964450	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr9:25964208-25964546	A549	lung:	n/a	n/a
17	CTCF	chr9:25964280-25964430	GM12873	blood:	n/a	n/a
18	CTCF	chr9:25872100-25872250	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr9:25964263-25964489	GM19238	blood:	n/a	n/a
20	CTCF	chr9:25964280-25964430	AG04450	lung:	n/a	n/a
21	CTCF	chr9:25964360-25964510	GM12801	blood:	n/a	n/a
22	CTCF	chr9:25964244-25964458	HepG2	liver:	n/a	n/a
23	CTCF	chr9:25961457-25961514	GM20000	blood:	n/a	n/a
24	CTCF	chr9:25964200-25964350	RPTEC	kidney:	n/a	n/a
25	CTCF	chr9:25964300-25964450	AG10803	skin:	n/a	n/a
26	CTCF	chr9:25964239-25964427	GM10248	blood:	n/a	n/a
27	CTCF	chr9:25964260-25964410	GM12869	blood:	n/a	n/a
28	CTCF	chr9:25964240-25964390	GM12875	blood:	n/a	n/a
29	CTCF	chr9:25964280-25964430	GM12864	blood:	n/a	n/a
30	CTCF	chr9:25964260-25964410	GM12872	blood:	n/a	n/a
31	CTCF	chr9:25964280-25964430	HMEC	breast:	n/a	n/a
32	CTCF	chr9:25964217-25964467	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr9:25964280-25964430	HEK293	kidney:	n/a	n/a
34	CTCF	chr9:25964280-25964430	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr9:25964280-25964430	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr9:25964300-25964450	HL-60	blood:	n/a	n/a
37	CTCF	chr9:25964216-25964453	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr9:25964258-25964448	GM13976	blood:	n/a	n/a
39	CTCF	chr9:25964140-25964576	MCF-7	breast:	n/a	n/a
40	CTCF	chr9:25964260-25964410	AG09319	gingival:	n/a	n/a
41	CTCF	chr9:25964280-25964430	GM12874	blood:	n/a	n/a
42	CTCF	chr9:25909780-25909930	AG10803	skin:	n/a	n/a
43	CTCF	chr9:25964320-25964470	HVMF	connective:	n/a	n/a
44	CTCF	chr9:25964280-25964430	HMF	breast:	n/a	n/a
45	CTCF	chr9:25964260-25964410	HCM	heart:	n/a	n/a
46	CTCF	chr9:25964300-25964450	AG09309	skin:	n/a	n/a
47	CTCF	chr9:25889120-25889270	AG10803	skin:	n/a	n/a
48	CTCF	chr9:25964260-25964435	GM20000	blood:	n/a	n/a
49	CTCF	chr9:25964280-25964430	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr9:25964280-25964430	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:25677479..25679226-chr9:25880720..25882284,2	MCF-7	breast:
2	chr9:25963971..25964744-chr9:26326247..26327016,2	MCF-7	breast:
3	chr9:25964124..25964728-chr9:26326171..26327079,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFT74-7	chr9:25937910-25938432	NONHSAT130507

Variant related genes	Relation type
ENSG00000270683	TF binding region
ENSG00000198680	chromatin interactions

Extended variants
information (count: 2142 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:2142 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528571204	chr9:25875844-25875845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547210746	chr9:25875845-25875846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571706765	chr9:25875870-25875871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375693482	chr9:25875883-25875884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532667930	chr9:25875887-25875888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191835077	chr9:25875913-25875914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569193886	chr9:25875923-25875924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536679175	chr9:25875931-25875932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539569605	chr9:25875979-25875980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183984258	chr9:25875981-25875982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554940289	chr9:25875990-25875991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551466345	chr9:25875996-25875997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566892713	chr9:25876012-25876013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567395589	chr9:25876028-25876029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188879687	chr9:25876044-25876045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368589980	chr9:25876072-25876073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs118172054	chr9:25876102-25876103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577734393	chr9:25876141-25876142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534603592	chr9:25876155-25876156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553280206	chr9:25876170-25876171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574788585	chr9:25876194-25876195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535602781	chr9:25876196-25876197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557207985	chr9:25876225-25876226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533746514	chr9:25876235-25876236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575382076	chr9:25876275-25876276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79518673	chr9:25876306-25876307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563907519	chr9:25876308-25876309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543088573	chr9:25876317-25876318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78765579	chr9:25876322-25876323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372792326	chr9:25876331-25876332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141574509	chr9:25876338-25876339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565492463	chr9:25876352-25876353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150490582	chr9:25876370-25876371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550742994	chr9:25876463-25876464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61576914	chr9:25876469-25876470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530319855	chr9:25876493-25876494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548973372	chr9:25876515-25876516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572833140	chr9:25876517-25876518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1219943	chr9:25876561-25876562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370065811	chr9:25876620-25876621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368221206	chr9:25876630-25876631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191010435	chr9:25876655-25876656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182442195	chr9:25876663-25876664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538863811	chr9:25876664-25876665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557189832	chr9:25876675-25876676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575647279	chr9:25876678-25876679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555914555	chr9:25876699-25876700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79811482	chr9:25876705-25876706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554950023	chr9:25876776-25876777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149606205	chr9:25876810-25876811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25875800-25883600	Weak transcription	HUVEC	blood vessel
2	chr9:25876200-25877200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:25883600-25884800	Enhancers	HUVEC	blood vessel
4	chr9:25889400-25889800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:25891600-25892200	Enhancers	Fetal Muscle Leg	muscle
6	chr9:25891800-25892200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:25892200-25892600	Enhancers	Fetal Brain Male	brain
8	chr9:25904200-25904600	Active TSS	Fetal Heart	heart
9	chr9:25904400-25905000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:25914800-25915000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:25915400-25915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:25917000-25918800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:25917200-25918200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:25917400-25919000	Enhancers	Hela-S3	cervix
15	chr9:25917600-25918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:25917600-25918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:25917600-25919000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:25917600-25919400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:25917800-25918200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:25918000-25918400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:25918200-25923200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:25923200-25923600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:25923600-25926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:25926800-25928600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:25926800-25929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:25927000-25928000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:25935000-25935200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:25935000-25935600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:25935200-25936400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:25935600-25936400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:25936400-25936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:25936400-25939400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:25937800-25938200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr9:25938200-25938600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:25938600-25939200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr9:25939400-25939800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:25964400-25965000	Enhancers	Hela-S3	cervix
38	chr9:25969600-25970000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:25969800-25970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:25973800-25974400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:25974600-25975000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:25975200-25975800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:25975400-25975800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:25975400-25975800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr9:25975400-25975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr9:25975400-25975800	Enhancers	Brain Germinal Matrix	brain
47	chr9:25975400-25976000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr9:25982600-25982800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:25993200-25994400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:25994400-25995200	Enhancers	HUVEC	blood vessel

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