Variant report

Variant	nsv1033002
Chromosome Location	chr9:27199373-27232601
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	chr9:27213771-27214035	IMR90	lung:	n/a	chr9:27213910-27213921 chr9:27213908-27213921 chr9:27213908-27213921
2	CEBPB	chr9:27205299-27205573	HepG2	liver:	n/a	n/a
3	CEBPB	chr9:27205273-27205571	IMR90	lung:	n/a	n/a
4	CEBPB	chr9:27206129-27206382	HepG2	liver:	n/a	chr9:27206247-27206258 chr9:27206247-27206260
5	CEBPB	chr9:27203351-27203698	K562	blood:	n/a	chr9:27203510-27203519 chr9:27203510-27203519 chr9:27203510-27203519 chr9:27203508-27203519 chr9:27203510-27203519
6	CEBPB	chr9:27227150-27227597	Hela-S3	cervix:	n/a	chr9:27227337-27227348
7	CEBPB	chr9:27227230-27227494	K562	blood:	n/a	chr9:27227337-27227348
8	CEBPB	chr9:27205280-27205603	A549	lung:	n/a	n/a
9	CEBPB	chr9:27227180-27227530	K562	blood:	n/a	chr9:27227337-27227348
10	CEBPB	chr9:27227147-27227727	IMR90	lung:	n/a	chr9:27227337-27227348
11	CEBPB	chr9:27227200-27227514	A549	lung:	n/a	chr9:27227337-27227348
12	CEBPB	chr9:27227195-27227527	HepG2	liver:	n/a	chr9:27227337-27227348
13	CHD2	chr9:27232395-27232413	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr9:27231901-27231933	ProgFib	skin:	n/a	n/a
15	CTCF	chr9:27205537-27205638	Lung_OC	lung:	n/a	n/a
16	CTCF	chr9:27203423-27203475	K562	blood:	n/a	chr9:27203443-27203456
17	CTCF	chr9:27203380-27203530	HMEC	breast:	n/a	chr9:27203443-27203456
18	CTCF	chr9:27215920-27216070	AG04450	lung:	n/a	n/a
19	CTCF	chr9:27203300-27203450	NHEK	skin:	n/a	n/a
20	CTCF	chr9:27203373-27203573	K562	blood:	n/a	chr9:27203443-27203456
21	CTCF	chr9:27203340-27203490	NHEK	skin:	n/a	chr9:27203443-27203456
22	CTCF	chr9:27227300-27227450	GM12872	blood:	n/a	n/a
23	CTCF	chr9:27215820-27215970	NHEK	skin:	n/a	n/a
24	CTCF	chr9:27227420-27227570	HepG2	liver:	n/a	n/a
25	CTCF	chr9:27203380-27203530	HPAF	blood vessel:	n/a	chr9:27203443-27203456
26	CTCF	chr9:27203400-27203550	AG04449	skin:	n/a	chr9:27203443-27203456
27	CTCF	chr9:27203320-27203470	HCPEpiC	choroid plexus:	n/a	chr9:27203443-27203456
28	CTCF	chr9:27227420-27227570	NB4	blood:	n/a	n/a
29	E2F4	chr9:27201746-27201889	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr9:27202947-27202990	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr9:27227172-27227555	MCF10A-Er-Src	breast:	n/a	n/a
32	ELK4	chr9:27227214-27227587	Hela-S3	cervix:	n/a	n/a
33	EP300	chr9:27227125-27227559	Hela-S3	cervix:	n/a	n/a
34	EP300	chr9:27210660-27210794	K562	blood:	n/a	n/a
35	EP300	chr9:27209021-27209555	SK-N-SH	brain:	n/a	n/a
36	FOS	chr9:27212331-27212463	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr9:27199892-27200466	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr9:27200032-27200464	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr9:27227125-27227637	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr9:27204473-27204960	MCF10A-Er-Src	breast:	n/a	chr9:27204601-27204610
41	FOS	chr9:27227020-27227749	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr9:27212250-27212368	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:27204553-27204914	MCF10A-Er-Src	breast:	n/a	chr9:27204601-27204610
44	FOS	chr9:27199971-27200497	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:27204541-27204917	MCF10A-Er-Src	breast:	n/a	chr9:27204601-27204610
46	FOS	chr9:27227060-27227674	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:27204489-27204960	MCF10A-Er-Src	breast:	n/a	chr9:27204601-27204610
48	FOS	chr9:27212252-27212416	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:27227002-27227628	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:27200040-27200530	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFT74-6	chr9:27210325-27210624	NONHSAT130609

Variant related genes	Relation type
ENSG00000232867	TF binding region

Extended variants
information (count: 1869 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:1869 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7027984	chr9:27199373-27199374	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7027647	chr9:27199387-27199388	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145943922	chr9:27199388-27199389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376947234	chr9:27199394-27199395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183847716	chr9:27199395-27199396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62546521	chr9:27199439-27199440	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568961451	chr9:27199448-27199449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552775479	chr9:27199478-27199479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554695648	chr9:27199486-27199487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376296859	chr9:27199504-27199505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs685434	chr9:27199521-27199522	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs685421	chr9:27199530-27199531	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556914021	chr9:27199546-27199547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187090090	chr9:27199547-27199548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192858497	chr9:27199548-27199549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376076622	chr9:27199589-27199590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528218312	chr9:27199633-27199634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185420518	chr9:27199658-27199659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190343401	chr9:27199672-27199673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7028527	chr9:27199796-27199797	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141138367	chr9:27199839-27199840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182596054	chr9:27199844-27199845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150810330	chr9:27199892-27199893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75729889	chr9:27199989-27199990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149932063	chr9:27199994-27199995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184929535	chr9:27200008-27200009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188129243	chr9:27200029-27200030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534060421	chr9:27200035-27200036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372179279	chr9:27200099-27200100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553124611	chr9:27200116-27200117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11791837	chr9:27200132-27200133	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538830890	chr9:27200138-27200139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538331724	chr9:27200215-27200216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180929529	chr9:27200264-27200265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs671353	chr9:27200266-27200267	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577406128	chr9:27200324-27200325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185605495	chr9:27200327-27200328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7039849	chr9:27200358-27200359	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540373860	chr9:27200424-27200425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191544597	chr9:27200433-27200434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532554271	chr9:27200452-27200453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147607840	chr9:27200482-27200483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140834766	chr9:27200488-27200489	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375502479	chr9:27200538-27200539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10217491	chr9:27200546-27200547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs67454612	chr9:27200608-27200609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35911293	chr9:27200609-27200610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3063621	chr9:27200611-27200612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144758310	chr9:27200621-27200622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370927532	chr9:27200639-27200640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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
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
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
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Lung cancer	20668451	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27165400-27219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:27166200-27205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:27184200-27212600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:27193000-27203000	Weak transcription	Aorta	Aorta
8	chr9:27193000-27204800	Weak transcription	Lung	lung
9	chr9:27193000-27209000	Weak transcription	Fetal Stomach	stomach
10	chr9:27193000-27212600	Weak transcription	Spleen	Spleen
11	chr9:27193000-27220000	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:27193400-27202600	Weak transcription	Adipose Nuclei	Adipose
13	chr9:27195200-27221800	Weak transcription	Fetal Intestine Large	intestine
14	chr9:27195400-27202600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:27195400-27203000	Weak transcription	Left Ventricle	heart
16	chr9:27195400-27204800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:27195600-27200600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:27195600-27203600	Weak transcription	Osteobl	bone
19	chr9:27196800-27228800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr9:27197200-27203800	Weak transcription	NHEK	skin
21	chr9:27198400-27204400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:27198400-27219800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:27198400-27219800	Weak transcription	Ovary	ovary
24	chr9:27198600-27202800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:27198600-27203600	Weak transcription	HSMM	muscle
26	chr9:27199000-27202000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:27199000-27203000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:27199200-27202200	Weak transcription	HUVEC	blood vessel
29	chr9:27200400-27200600	Enhancers	HMEC	breast
30	chr9:27200600-27201400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:27201200-27212600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:27201400-27224800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:27202000-27204200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:27202200-27205400	Strong transcription	HUVEC	blood vessel
35	chr9:27202400-27220600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:27202600-27203200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:27202600-27204000	Strong transcription	Adipose Nuclei	Adipose
38	chr9:27202800-27203800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:27203000-27203800	Enhancers	Aorta	Aorta
40	chr9:27203000-27203800	Strong transcription	Left Ventricle	heart
41	chr9:27203000-27204000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr9:27203200-27203400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:27203400-27205000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:27203600-27205000	Enhancers	HSMMtube	muscle
45	chr9:27203600-27205200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:27203600-27205200	Enhancers	HSMM	muscle
47	chr9:27203600-27205400	Enhancers	Osteobl	bone
48	chr9:27203800-27205000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:27203800-27205400	Enhancers	NHEK	skin
50	chr9:27203800-27205800	Weak transcription	Left Ventricle	heart

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