Variant report

Variant	nsv949527
Chromosome Location	chr9:12126326-12461648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:665)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:12328968-12329168	HepG2	liver:	n/a	n/a
2	BACH1	chr9:12170667-12170713	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:12292536-12292567	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr9:12329455-12329670	GM12878	blood:	n/a	n/a
5	BATF	chr9:12230772-12231081	GM12878	blood:	n/a	n/a
6	BCLAF1	chr9:12329426-12329668	GM12878	blood:	n/a	n/a
7	BHLHE40	chr9:12414650-12414651	HepG2	liver:	n/a	n/a
8	BHLHE40	chr9:12328884-12329725	HepG2	liver:	n/a	n/a
9	BHLHE40	chr9:12329021-12329257	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:12328995-12329158	K562	blood:	n/a	n/a
11	BRCA1	chr9:12368889-12368916	GM12878	blood:	n/a	n/a
12	CEBPB	chr9:12450499-12450835	HepG2	liver:	n/a	chr9:12450652-12450663
13	CEBPB	chr9:12195488-12195695	K562	blood:	n/a	chr9:12195611-12195622
14	CEBPB	chr9:12195471-12195788	IMR90	lung:	n/a	chr9:12195611-12195622
15	CEBPB	chr9:12195456-12195797	HepG2	liver:	n/a	chr9:12195611-12195622
16	CEBPB	chr9:12447528-12447785	HepG2	liver:	n/a	chr9:12447635-12447646
17	CEBPB	chr9:12208833-12209071	HepG2	liver:	n/a	chr9:12208898-12208909 chr9:12208899-12208908 chr9:12208897-12208910
18	CEBPB	chr9:12447570-12447769	H1-hESC	embryonic stem cell:	n/a	chr9:12447635-12447646
19	CEBPB	chr9:12447534-12447781	A549	lung:	n/a	chr9:12447635-12447646
20	CEBPB	chr9:12195470-12195708	H1-hESC	embryonic stem cell:	n/a	chr9:12195611-12195622
21	CEBPB	chr9:12288039-12288167	HepG2	liver:	n/a	n/a
22	CEBPB	chr9:12447532-12447761	IMR90	lung:	n/a	chr9:12447635-12447646
23	CEBPB	chr9:12180768-12180970	IMR90	lung:	n/a	n/a
24	CEBPB	chr9:12193945-12194181	A549	lung:	n/a	chr9:12194071-12194082 chr9:12194071-12194084
25	CEBPB	chr9:12367335-12367535	HepG2	liver:	n/a	chr9:12367443-12367454
26	CEBPB	chr9:12129071-12129335	HepG2	liver:	n/a	n/a
27	CHD1	chr9:12314638-12314797	GM12878	blood:	n/a	n/a
28	CHD2	chr9:12314733-12314838	GM12878	blood:	n/a	n/a
29	CHD2	chr9:12319226-12319370	GM12878	blood:	n/a	n/a
30	CTCF	chr9:12329440-12329590	NHEK	skin:	n/a	n/a
31	CTCF	chr9:12329520-12329670	GM12875	blood:	n/a	n/a
32	CTCF	chr9:12329365-12329759	K562	blood:	n/a	n/a
33	CTCF	chr9:12426358-12426391	GM10248	blood:	n/a	n/a
34	CTCF	chr9:12329520-12329670	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr9:12195600-12195750	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr9:12426280-12426430	NHEK	skin:	n/a	chr9:12426384-12426405
37	CTCF	chr9:12401600-12401750	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr9:12329376-12329723	Fibrobl	skin:	n/a	n/a
39	CTCF	chr9:12210667-12210803	GM10248	blood:	n/a	n/a
40	CTCF	chr9:12329425-12329629	T-47D	breast:	n/a	n/a
41	CTCF	chr9:12452600-12452750	NB4	blood:	n/a	n/a
42	CTCF	chr9:12426320-12426470	NHEK	skin:	n/a	chr9:12426384-12426405
43	CTCF	chr9:12329480-12329630	NHEK	skin:	n/a	n/a
44	CTCF	chr9:12329268-12329716	A549	lung:	n/a	n/a
45	CTCF	chr9:12329280-12329352	GM12892	blood:	n/a	n/a
46	CTCF	chr9:12329458-12329675	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr9:12426302-12426522	LNCaP	prostate:	n/a	chr9:12426384-12426405
48	CTCF	chr9:12329428-12329658	HepG2	liver:	n/a	n/a
49	CTCF	chr9:12329480-12329630	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr9:12319380-12319530	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:116381055..116381867-chr9:12405688..12406208,2	Hela-S3	cervix:
2	chr9:10855600..10856394-chr9:12425953..12426703,2	MCF-7	breast:
3	chr9:12268631..12271178-chr9:12273434..12276211,2	K562	blood:
4	chr9:10855828..10856443-chr9:12329128..12329639,2	MCF-7	breast:
5	chr9:12268631..12271178-chr9:12273434..12276211,2	K562	blood:
6	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:
7	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
8	chr16:89002000..89004763-chr9:12244429..12246932,2	MCF-7	breast:
9	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:
10	chr18:21570976..21573123-chr9:12145530..12147030,2	MCF-7	breast:
11	chr1:186649939..186650766-chr9:12429991..12430491,2	Hela-S3	cervix:
12	chr9:12182493..12185046-chr9:12186407..12189303,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPDZ-9	chr9:12136273-12136401	NONHSAT130219
2	lnc-MPDZ-2	chr9:12139007-12139044	XLOC_007648
3	lnc-MPDZ-2	chr9:12146273-12146401	XLOC_007648
4	lnc-MPDZ-2	chr9:12159117-12159147	XLOC_007648
5	lnc-MPDZ-9	chr9:12149117-12149147	NONHSAT130219
6	lnc-TYRP1-4	chr9:12287320-12288238	NONHSAT130222

No data

Variant related genes	Relation type
ENSG00000224935	TF binding region
ENSG00000231491	TF binding region
RNU2-47P	TF binding region
ENSG00000168234	chromatin interactions
ENSG00000261226	chromatin interactions

Extended variants
information (count: 5617 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:5617 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190932649	chr9:12135801-12135802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74879715	chr9:12135815-12135816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565615056	chr9:12135821-12135822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534655533	chr9:12135846-12135847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141359338	chr9:12135850-12135851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371538468	chr9:12135893-12135894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557723629	chr9:12135906-12135907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72710246	chr9:12135909-12135910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574405682	chr9:12135938-12135939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554879772	chr9:12135940-12135941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573927991	chr9:12135984-12135985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543026439	chr9:12135998-12135999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139159889	chr9:12136051-12136052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573009438	chr9:12136052-12136053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545150631	chr9:12136083-12136084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374764710	chr9:12136089-12136090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149501938	chr9:12136148-12136149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182351221	chr9:12136178-12136179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186738909	chr9:12136179-12136180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146341845	chr9:12136236-12136237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10124525	chr9:12136243-12136244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537102801	chr9:12136288-12136289	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs112866214	chr9:12136297-12136298	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs546828012	chr9:12136298-12136299	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs73406646	chr9:12136305-12136306	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs34341568	chr9:12136317-12136318	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs71507305	chr9:12136349-12136350	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs200473544	chr9:12136383-12136384	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs552343873	chr9:12136416-12136417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144233712	chr9:12136434-12136435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192761696	chr9:12136435-12136436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574255521	chr9:12136439-12136440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146543734	chr9:12136456-12136457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568357450	chr9:12136481-12136482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7857236	chr9:12136561-12136562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552951499	chr9:12136654-12136655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184875824	chr9:12136655-12136656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188536142	chr9:12136668-12136669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558655271	chr9:12136675-12136676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575721269	chr9:12136693-12136694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576674289	chr9:12136713-12136714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200962569	chr9:12136746-12136747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148706106	chr9:12136787-12136788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193164079	chr9:12136846-12136847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74498108	chr9:12136908-12136909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184173260	chr9:12136914-12136915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560185001	chr9:12136918-12136919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566356079	chr9:12136997-12136998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189407172	chr9:12137017-12137018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142458597	chr9:12137075-12137076	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12135800-12137400	Enhancers	Fetal Heart	heart
2	chr9:12137600-12138400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr9:12137800-12138200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:12139800-12142600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr9:12142400-12144000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:12155400-12156200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:12156200-12161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:12161400-12167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:12161600-12164800	Enhancers	Brain Germinal Matrix	brain
10	chr9:12162200-12162400	Active TSS	Brain Anterior Caudate	brain
11	chr9:12162200-12162600	Active TSS	Brain Angular Gyrus	brain
12	chr9:12162200-12162800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:12162200-12163200	Enhancers	Fetal Brain Female	brain
14	chr9:12162400-12162600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr9:12162400-12162600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:12162400-12162800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:12162400-12163000	Enhancers	Brain Hippocampus Middle	brain
18	chr9:12162600-12162800	Enhancers	Brain Anterior Caudate	brain
19	chr9:12162600-12163000	Enhancers	Brain Angular Gyrus	brain
20	chr9:12162600-12163400	Enhancers	Fetal Brain Male	brain
21	chr9:12162800-12166400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:12162800-12166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:12163200-12164000	Weak transcription	Fetal Brain Female	brain
24	chr9:12164000-12164200	Enhancers	Fetal Brain Female	brain
25	chr9:12164200-12166200	Weak transcription	Fetal Brain Female	brain
26	chr9:12165800-12166400	Enhancers	Brain Substantia Nigra	brain
27	chr9:12166200-12166400	Enhancers	Fetal Brain Female	brain
28	chr9:12166400-12167000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr9:12166600-12167000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:12191600-12192000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr9:12191600-12192000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr9:12191800-12192000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:12192000-12200800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:12200400-12200600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:12200400-12200800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:12200400-12202000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr9:12200600-12201000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr9:12200800-12201200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:12201200-12204400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:12204400-12204800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:12212600-12213000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:12212600-12213600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:12212800-12214000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:12213000-12213400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:12213000-12213800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr9:12213400-12214200	Enhancers	Brain Germinal Matrix	brain
47	chr9:12213400-12214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:12213800-12214200	Enhancers	Brain Hippocampus Middle	brain
49	chr9:12221800-12222000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:12222000-12224400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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