Variant report

Variant	nsv1017295
Chromosome Location	chr9:25916353-26001315
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	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
4	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
5	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
6	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
7	CTCF	chr9:25964300-25964450	BE2_C	brain:	n/a	n/a
8	CTCF	chr9:25964300-25964450	GM12867	blood:	n/a	n/a
9	CTCF	chr9:25964320-25964470	HVMF	connective:	n/a	n/a
10	CTCF	chr9:25964260-25964410	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr9:25964200-25964350	RPTEC	kidney:	n/a	n/a
12	CTCF	chr9:25964214-25964500	MCF-7	breast:	n/a	n/a
13	CTCF	chr9:25964320-25964470	NHEK	skin:	n/a	n/a
14	CTCF	chr9:25964280-25964430	NHLF	lung:	n/a	n/a
15	CTCF	chr9:25964263-25964489	GM19238	blood:	n/a	n/a
16	CTCF	chr9:25917771-25917780	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr9:25964260-25964410	AG09319	gingival:	n/a	n/a
18	CTCF	chr9:25964280-25964430	AG09309	skin:	n/a	n/a
19	CTCF	chr9:25964260-25964435	GM20000	blood:	n/a	n/a
20	CTCF	chr9:25964280-25964430	AG04450	lung:	n/a	n/a
21	CTCF	chr9:25964213-25964487	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr9:25964280-25964430	GM12869	blood:	n/a	n/a
23	CTCF	chr9:25964280-25964430	GM12865	blood:	n/a	n/a
24	CTCF	chr9:25964136-25964559	GM12878	blood:	n/a	n/a
25	CTCF	chr9:25964240-25964390	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr9:25964280-25964430	GM12871	blood:	n/a	n/a
27	CTCF	chr9:25964261-25964473	GM19240	blood:	n/a	n/a
28	CTCF	chr9:25964221-25964498	GM13977	blood:	n/a	n/a
29	CTCF	chr9:25964260-25964410	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr9:25964280-25964430	HA-sp	spinal cord:	n/a	n/a
31	CTCF	chr9:25964300-25964450	GM12874	blood:	n/a	n/a
32	CTCF	chr9:25964280-25964430	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr9:25964003-25964689	A549	lung:	n/a	n/a
34	CTCF	chr9:25964225-25964495	MCF-7	breast:	n/a	n/a
35	CTCF	chr9:25964298-25964444	MCF-7	breast:	n/a	n/a
36	CTCF	chr9:25964254-25964502	A549	lung:	n/a	n/a
37	CTCF	chr9:25964300-25964450	WI-38	lung:	n/a	n/a
38	CTCF	chr9:25964260-25964410	SAEC	small airway:	n/a	n/a
39	CTCF	chr9:25964180-25964617	MCF-7	breast:	n/a	n/a
40	CTCF	chr9:25964315-25964473	GM12891	blood:	n/a	n/a
41	CTCF	chr9:25980980-25981081	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr9:25964280-25964430	GM12875	blood:	n/a	n/a
43	CTCF	chr9:25964280-25964430	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr9:25964280-25964430	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr9:25964280-25964430	HRE	kidney:	n/a	n/a
46	CTCF	chr9:25964280-25964430	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr9:25964340-25964490	MCF-7	breast:	n/a	n/a
48	CTCF	chr9:25964280-25964430	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:25964300-25964450	BJ	skin:	n/a	n/a
50	CTCF	chr9:25964217-25964467	SK-N-SH_RA	brain:	n/a	n/a

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

Extended variants
information (count: 1073 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138617297	chr9:25917024-25917025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530153074	chr9:25917035-25917036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183625780	chr9:25917065-25917066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188134189	chr9:25917080-25917081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373720507	chr9:25917126-25917127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567369049	chr9:25917153-25917154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192751665	chr9:25917203-25917204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148906226	chr9:25917231-25917232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143547414	chr9:25917261-25917262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560144530	chr9:25917283-25917284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572164567	chr9:25917364-25917365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79808111	chr9:25917386-25917387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59885701	chr9:25917428-25917429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375011060	chr9:25917432-25917433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564253916	chr9:25917447-25917448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531673597	chr9:25917458-25917459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550090062	chr9:25917472-25917473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529628100	chr9:25917473-25917474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529241266	chr9:25917511-25917512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114533272	chr9:25917528-25917529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138158408	chr9:25917582-25917583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539665725	chr9:25917603-25917604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551586674	chr9:25917651-25917652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569899672	chr9:25917654-25917655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1219938	chr9:25917668-25917669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528693136	chr9:25917691-25917692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60181404	chr9:25917704-25917705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80117548	chr9:25917756-25917757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550930055	chr9:25917771-25917772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375413130	chr9:25917786-25917787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549777329	chr9:25917794-25917795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553608895	chr9:25917802-25917803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572135723	chr9:25917823-25917824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1219939	chr9:25917858-25917859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185007939	chr9:25917868-25917869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576301330	chr9:25917873-25917874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549278883	chr9:25917877-25917878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189934712	chr9:25917882-25917883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7856714	chr9:25917912-25917913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143903027	chr9:25917916-25917917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547740802	chr9:25917917-25917918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181730237	chr9:25917930-25917931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568888689	chr9:25917973-25917974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533284652	chr9:25917974-25917975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551448706	chr9:25917977-25917978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146626584	chr9:25918003-25918004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537198613	chr9:25918007-25918008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184903751	chr9:25918159-25918160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567922424	chr9:25918170-25918171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139158387	chr9:25918193-25918194	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:25917000-25918800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:25917200-25918200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:25917400-25919000	Enhancers	Hela-S3	cervix
4	chr9:25917600-25918200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:25917600-25918800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:25917600-25919000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:25917600-25919400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:25917800-25918200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:25918000-25918400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:25918200-25923200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:25923200-25923600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:25923600-25926800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:25926800-25928600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:25926800-25929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:25927000-25928000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:25935000-25935200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:25935000-25935600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:25935200-25936400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:25935600-25936400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:25936400-25936600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:25936400-25939400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:25937800-25938200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr9:25938200-25938600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:25938600-25939200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr9:25939400-25939800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:25964400-25965000	Enhancers	Hela-S3	cervix
27	chr9:25969600-25970000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:25969800-25970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:25973800-25974400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:25974600-25975000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:25975200-25975800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:25975400-25975800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:25975400-25975800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:25975400-25975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:25975400-25975800	Enhancers	Brain Germinal Matrix	brain
36	chr9:25975400-25976000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:25982600-25982800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:25993200-25994400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:25994400-25995200	Enhancers	HUVEC	blood vessel
40	chr9:25994800-25995200	Enhancers	Hela-S3	cervix
41	chr9:25997600-25998800	Active TSS	Fetal Heart	heart

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