Variant report

Variant	nsv892527
Chromosome Location	chr9:12058197-12213879
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	BACH1	chr9:12170667-12170713	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr9:12119993-12120079	A549	lung:	n/a	chr9:12120059-12120068 chr9:12120057-12120070 chr9:12120057-12120068
3	CEBPB	chr9:12129071-12129335	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:12195488-12195695	K562	blood:	n/a	chr9:12195611-12195622
5	CEBPB	chr9:12195456-12195797	HepG2	liver:	n/a	chr9:12195611-12195622
6	CEBPB	chr9:12208833-12209071	HepG2	liver:	n/a	chr9:12208898-12208909 chr9:12208899-12208908 chr9:12208897-12208910
7	CEBPB	chr9:12180768-12180970	IMR90	lung:	n/a	n/a
8	CEBPB	chr9:12195471-12195788	IMR90	lung:	n/a	chr9:12195611-12195622
9	CEBPB	chr9:12193945-12194181	A549	lung:	n/a	chr9:12194071-12194082 chr9:12194071-12194084
10	CEBPB	chr9:12195470-12195708	H1-hESC	embryonic stem cell:	n/a	chr9:12195611-12195622
11	CTCF	chr9:12078782-12078864	LNCaP	prostate:	n/a	n/a
12	CTCF	chr9:12195520-12195670	HMF	breast:	n/a	n/a
13	CTCF	chr9:12076206-12076321	GM10266	blood:	n/a	n/a
14	CTCF	chr9:12076187-12076204	GM10248	blood:	n/a	n/a
15	CTCF	chr9:12100160-12100310	NB4	blood:	n/a	n/a
16	CTCF	chr9:12195560-12195710	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr9:12195560-12195710	HMF	breast:	n/a	n/a
18	CTCF	chr9:12101680-12101830	GM12869	blood:	n/a	n/a
19	CTCF	chr9:12195560-12195710	HEK293	kidney:	n/a	n/a
20	CTCF	chr9:12195600-12195750	NHEK	skin:	n/a	n/a
21	CTCF	chr9:12210667-12210803	GM10248	blood:	n/a	n/a
22	CTCF	chr9:12180880-12181030	HEK293	kidney:	n/a	n/a
23	CTCF	chr9:12142395-12142451	LNCaP	prostate:	n/a	n/a
24	CTCF	chr9:12092304-12092357	MCF-7	breast:	n/a	n/a
25	CTCF	chr9:12195600-12195750	HCPEpiC	choroid plexus:	n/a	n/a
26	CTCF	chr9:12092315-12092389	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:12115897-12115954	GM10248	blood:	n/a	n/a
28	CTCF	chr9:12180880-12181030	GM12878	blood:	n/a	n/a
29	CTCF	chr9:12210677-12210803	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr9:12148949-12149036	Fibrobl	skin:	n/a	n/a
31	CTCF	chr9:12092280-12092430	WERI-Rb-1	eye:	n/a	n/a
32	CUX1	chr9:12116986-12116993	GM12878	blood:	n/a	n/a
33	E2F4	chr9:12208242-12208320	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr9:12088959-12089045	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr9:12129041-12129241	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr9:12060947-12061014	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr9:12080930-12081057	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr9:12155208-12155412	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr9:12058071-12058393	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr9:12145578-12145647	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr9:12058656-12058919	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr9:12185683-12185754	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr9:12150860-12151087	MCF10A-Er-Src	breast:	n/a	n/a
44	FAM48A	chr9:12117068-12117206	GM12878	blood:	n/a	n/a
45	FOS	chr9:12185825-12186224	MCF10A-Er-Src	breast:	n/a	chr9:12186008-12186019
46	FOS	chr9:12185838-12186217	MCF10A-Er-Src	breast:	n/a	chr9:12186008-12186019
47	FOS	chr9:12183409-12183596	MCF10A-Er-Src	breast:	n/a	chr9:12183552-12183561 chr9:12183551-12183560
48	FOS	chr9:12185825-12186238	MCF10A-Er-Src	breast:	n/a	chr9:12186008-12186019
49	FOS	chr9:12185877-12186243	HUVEC	blood vessel:	n/a	chr9:12186008-12186019
50	FOS	chr9:12183392-12183690	MCF10A-Er-Src	breast:	n/a	chr9:12183552-12183561 chr9:12183551-12183560

No.	Distal block	Cell Line	Cell type
1	chr18:21570976..21573123-chr9:12145530..12147030,2	MCF-7	breast:
2	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:
3	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
4	chr9:12094328..12096426-chr9:12096756..12098736,2	K562	blood:
5	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPDZ-2	chr9:12098660-12099015	XLOC_007648
2	lnc-MPDZ-9	chr9:12149117-12149147	NONHSAT130219
3	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648
4	lnc-MPDZ-2	chr9:12159117-12159147	XLOC_007648
5	lnc-MPDZ-9	chr9:12088660-12089015	NONHSAT130219
6	lnc-MPDZ-2	chr9:12139007-12139044	XLOC_007648
7	lnc-MPDZ-9	chr9:12136273-12136401	NONHSAT130219
8	lnc-MPDZ-9	chr9:12106821-12106865	NONHSAT130219
9	lnc-MPDZ-2	chr9:12098714-12099015	XLOC_007648
10	lnc-MPDZ-2	chr9:12116821-12116865	XLOC_007648
11	lnc-MPDZ-2	chr9:12146273-12146401	XLOC_007648

Variant related genes	Relation type
ENSG00000224935	TF binding region
ENSG00000168234	chromatin interactions

Extended variants
information (count: 2656 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2656 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10960455	chr9:12058197-12058198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187727105	chr9:12058237-12058238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191008144	chr9:12058252-12058253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565579712	chr9:12058291-12058292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577258562	chr9:12058300-12058301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375553057	chr9:12058309-12058310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539501664	chr9:12058338-12058339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572289751	chr9:12058358-12058359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150216039	chr9:12058379-12058380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73646882	chr9:12058400-12058401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182624731	chr9:12058401-12058402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370606101	chr9:12058419-12058420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540713916	chr9:12058455-12058456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574594330	chr9:12058458-12058459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540415963	chr9:12058482-12058483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560047229	chr9:12058527-12058528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145738615	chr9:12058529-12058530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560938969	chr9:12058538-12058539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140536817	chr9:12058570-12058571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145622206	chr9:12058574-12058575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576655648	chr9:12058602-12058603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529613992	chr9:12058607-12058608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186956326	chr9:12058618-12058619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530764137	chr9:12058621-12058622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73646883	chr9:12058706-12058707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138496396	chr9:12058708-12058709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561624689	chr9:12058709-12058710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550583426	chr9:12058725-12058726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1446275	chr9:12058747-12058748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547974217	chr9:12058801-12058802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570685191	chr9:12058811-12058812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143040577	chr9:12058859-12058860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556224095	chr9:12058894-12058895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143366897	chr9:12058897-12058898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549477153	chr9:12058906-12058907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191548779	chr9:12058933-12058934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563008818	chr9:12058966-12058967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574688289	chr9:12058967-12058968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184420129	chr9:12058973-12058974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78885569	chr9:12059045-12059046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148348854	chr9:12059090-12059091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545946355	chr9:12059117-12059118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77473863	chr9:12059122-12059123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372043630	chr9:12059124-12059125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531382047	chr9:12059185-12059186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546738082	chr9:12059193-12059194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541798529	chr9:12059219-12059220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561485072	chr9:12059251-12059252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188486949	chr9:12059280-12059281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141499840	chr9:12059320-12059321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	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
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12057600-12059000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12058400-12060400	Enhancers	Fetal Intestine Large	intestine
3	chr9:12059000-12060000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:12060000-12065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:12060200-12060400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:12060400-12061400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:12060400-12065000	Weak transcription	Fetal Intestine Large	intestine
8	chr9:12061400-12061800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:12061400-12062000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:12061600-12061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:12061800-12064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:12064200-12065600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:12065000-12065800	Enhancers	Fetal Intestine Large	intestine
14	chr9:12076400-12076600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
15	chr9:12076400-12076800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:12076600-12076800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
17	chr9:12091200-12096400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr9:12091600-12092600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:12091800-12092200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:12092600-12096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:12096200-12096400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:12096400-12101600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:12101600-12102200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:12101600-12102400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:12101800-12102800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:12102400-12104200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:12104200-12104400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:12135800-12137400	Enhancers	Fetal Heart	heart
29	chr9:12137600-12138400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr9:12137800-12138200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:12139800-12142600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr9:12142400-12144000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:12155400-12156200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:12156200-12161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:12161400-12167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:12161600-12164800	Enhancers	Brain Germinal Matrix	brain
37	chr9:12162200-12162400	Active TSS	Brain Anterior Caudate	brain
38	chr9:12162200-12162600	Active TSS	Brain Angular Gyrus	brain
39	chr9:12162200-12162800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:12162200-12163200	Enhancers	Fetal Brain Female	brain
41	chr9:12162400-12162600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr9:12162400-12162600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:12162400-12162800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:12162400-12163000	Enhancers	Brain Hippocampus Middle	brain
45	chr9:12162600-12162800	Enhancers	Brain Anterior Caudate	brain
46	chr9:12162600-12163000	Enhancers	Brain Angular Gyrus	brain
47	chr9:12162600-12163400	Enhancers	Fetal Brain Male	brain
48	chr9:12162800-12166400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:12162800-12166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:12163200-12164000	Weak transcription	Fetal Brain Female	brain

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