Variant report

Variant	nsv1022674
Chromosome Location	chr9:26453723-26668102
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	ARID3A	chr9:26562360-26562554	HepG2	liver:	n/a	n/a
2	ATF2	chr9:26637101-26637510	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr9:26637055-26637518	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:26466284-26466388	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr9:26561963-26562264	GM12878	blood:	n/a	n/a
6	CEBPB	chr9:26466190-26466376	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr9:26533884-26534333	HepG2	liver:	n/a	chr9:26534241-26534252
8	CEBPB	chr9:26540136-26540422	IMR90	lung:	n/a	n/a
9	CEBPB	chr9:26510218-26510495	A549	lung:	n/a	chr9:26510350-26510359 chr9:26510348-26510359 chr9:26510350-26510359 chr9:26510350-26510359 chr9:26510348-26510361
10	CEBPB	chr9:26540100-26540482	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:26571262-26571469	HepG2	liver:	n/a	chr9:26571303-26571314
12	CEBPB	chr9:26637102-26637435	H1-hESC	embryonic stem cell:	n/a	chr9:26637215-26637228
13	CEBPB	chr9:26528003-26528329	H1-hESC	embryonic stem cell:	n/a	chr9:26528088-26528100
14	CEBPB	chr9:26656235-26656535	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr9:26667005-26667349	HepG2	liver:	n/a	chr9:26667180-26667191 chr9:26667178-26667191 chr9:26667178-26667189 chr9:26667178-26667191
16	CEBPB	chr9:26585706-26586037	HepG2	liver:	n/a	chr9:26585873-26585884
17	CEBPB	chr9:26527988-26528339	A549	lung:	n/a	chr9:26528088-26528100
18	CEBPB	chr9:26510174-26510488	H1-hESC	embryonic stem cell:	n/a	chr9:26510350-26510359 chr9:26510348-26510359 chr9:26510350-26510359 chr9:26510350-26510359 chr9:26510348-26510361
19	CEBPB	chr9:26510175-26510520	IMR90	lung:	n/a	chr9:26510350-26510359 chr9:26510348-26510359 chr9:26510350-26510359 chr9:26510350-26510359 chr9:26510348-26510361
20	CEBPB	chr9:26562339-26562734	Hela-S3	cervix:	n/a	chr9:26562535-26562548
21	CEBPB	chr9:26540177-26540384	HepG2	liver:	n/a	n/a
22	CEBPB	chr9:26505164-26505409	HepG2	liver:	n/a	chr9:26505276-26505287
23	CEBPB	chr9:26462397-26462542	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr9:26528012-26528297	A549	lung:	n/a	chr9:26528088-26528100
25	CEBPB	chr9:26585712-26586042	IMR90	lung:	n/a	chr9:26585873-26585884
26	CEBPB	chr9:26527988-26528356	HepG2	liver:	n/a	chr9:26528088-26528100
27	CEBPB	chr9:26585719-26586015	A549	lung:	n/a	chr9:26585873-26585884
28	CEBPB	chr9:26531008-26531123	A549	lung:	n/a	n/a
29	CEBPB	chr9:26505116-26505353	A549	lung:	n/a	chr9:26505276-26505287
30	CEBPB	chr9:26540207-26540396	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr9:26528000-26528321	IMR90	lung:	n/a	chr9:26528088-26528100
32	CEBPB	chr9:26508547-26508747	HepG2	liver:	n/a	n/a
33	CEBPB	chr9:26533803-26534162	IMR90	lung:	n/a	n/a
34	CEBPB	chr9:26510211-26510505	HepG2	liver:	n/a	chr9:26510350-26510359 chr9:26510348-26510359 chr9:26510350-26510359 chr9:26510350-26510359 chr9:26510348-26510361
35	CEBPB	chr9:26476087-26476342	HepG2	liver:	n/a	chr9:26476231-26476242
36	CEBPB	chr9:26528027-26528316	Hela-S3	cervix:	n/a	chr9:26528088-26528100
37	CHD1	chr9:26579192-26579266	GM12878	blood:	n/a	n/a
38	CHD2	chr9:26637151-26637458	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr9:26502414-26502583	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr9:26502389-26502602	GM12878	blood:	n/a	n/a
41	CTCF	chr9:26656400-26656550	AG09309	skin:	n/a	n/a
42	CTCF	chr9:26502400-26502550	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr9:26613955-26614140	MCF-7	breast:	n/a	n/a
44	CTCF	chr9:26656360-26656586	MCF-7	breast:	n/a	n/a
45	CTCF	chr9:26613860-26614010	HCM	heart:	n/a	n/a
46	CTCF	chr9:26632317-26632578	K562	blood:	n/a	chr9:26632476-26632485
47	CTCF	chr9:26613880-26614030	HFF	foreskin:	n/a	n/a
48	CTCF	chr9:26502460-26502610	BE2_C	brain:	n/a	n/a
49	CTCF	chr9:26656340-26656490	BJ	skin:	n/a	n/a
50	CTCF	chr9:26656410-26656503	GM13976	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf82-3	chr9:26642695-26644593	NONHSAT130585

Variant related genes	Relation type
ENSG00000266429	TF binding region

Extended variants
information (count: 3177 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:3177 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568713600	chr9:26456221-26456222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542446374	chr9:26456253-26456254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535963982	chr9:26456273-26456274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543959151	chr9:26456307-26456308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193208207	chr9:26456322-26456323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554605592	chr9:26456345-26456346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572864134	chr9:26456360-26456361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184955741	chr9:26456379-26456380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556045058	chr9:26456405-26456406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576702016	chr9:26456425-26456426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372051002	chr9:26456433-26456434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544133459	chr9:26456436-26456437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61535555	chr9:26456446-26456447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186753191	chr9:26456514-26456515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529344190	chr9:26456539-26456540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12353461	chr9:26456575-26456576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565896774	chr9:26456586-26456587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527804369	chr9:26456588-26456589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201979108	chr9:26456601-26456602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546157378	chr9:26456626-26456627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561740547	chr9:26456644-26456645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564507956	chr9:26456657-26456658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532035647	chr9:26456699-26456700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191603981	chr9:26456703-26456704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568774885	chr9:26456733-26456734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529451622	chr9:26456799-26456800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547692735	chr9:26456814-26456815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566530742	chr9:26456820-26456821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116808198	chr9:26456919-26456920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558113396	chr9:26456928-26456929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570152286	chr9:26456929-26456930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537745010	chr9:26456936-26456937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555991668	chr9:26456981-26456982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549768912	chr9:26463406-26463407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560348047	chr9:26463450-26463451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568240810	chr9:26463452-26463453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529220412	chr9:26463457-26463458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547603108	chr9:26463465-26463466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116330969	chr9:26463543-26463544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181959622	chr9:26463655-26463656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547767671	chr9:26463708-26463709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12346740	chr9:26463760-26463761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141619875	chr9:26463805-26463806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150519731	chr9:26463836-26463837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369168233	chr9:26463877-26463878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555763442	chr9:26463881-26463882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574237960	chr9:26463890-26463891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76108693	chr9:26463896-26463897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77013059	chr9:26463910-26463911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139618659	chr9:26463917-26463918	Enhancers	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
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
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26456200-26457000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:26463400-26464400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:26463800-26464200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:26463800-26464200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:26471200-26471800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr9:26491600-26493200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:26502000-26502600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:26502200-26502400	Enhancers	Fetal Muscle Leg	muscle
9	chr9:26502400-26505600	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:26504000-26504400	Enhancers	Fetal Lung	lung
11	chr9:26505600-26506000	Enhancers	Fetal Muscle Leg	muscle
12	chr9:26510800-26511000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:26511200-26511400	Enhancers	Fetal Kidney	kidney
14	chr9:26511400-26512400	Weak transcription	Fetal Kidney	kidney
15	chr9:26512400-26512600	Enhancers	Fetal Kidney	kidney
16	chr9:26516600-26517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:26516800-26517200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:26517000-26517800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:26519400-26519600	Enhancers	Lung	lung
20	chr9:26519600-26519800	Enhancers	Fetal Lung	lung
21	chr9:26519600-26520000	Enhancers	Fetal Stomach	stomach
22	chr9:26520000-26520400	Weak transcription	Fetal Stomach	stomach
23	chr9:26520200-26523600	Weak transcription	Fetal Lung	lung
24	chr9:26520400-26520600	Enhancers	Fetal Stomach	stomach
25	chr9:26520600-26522800	Weak transcription	Fetal Stomach	stomach
26	chr9:26522800-26526400	Enhancers	Fetal Stomach	stomach
27	chr9:26523000-26525000	Enhancers	Brain Germinal Matrix	brain
28	chr9:26523000-26525400	Enhancers	Colon Smooth Muscle	Colon
29	chr9:26523200-26524200	Enhancers	Stomach Smooth Muscle	stomach
30	chr9:26523200-26525400	Enhancers	Rectal Smooth Muscle	rectum
31	chr9:26523600-26525400	Enhancers	Fetal Muscle Leg	muscle
32	chr9:26523600-26525800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:26523600-26526000	Enhancers	Fetal Lung	lung
34	chr9:26523800-26524400	Enhancers	Fetal Brain Female	brain
35	chr9:26523800-26525200	Enhancers	Fetal Kidney	kidney
36	chr9:26524000-26524400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr9:26524000-26525200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:26524200-26524600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr9:26524200-26524600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr9:26524200-26525600	Enhancers	Fetal Brain Male	brain
41	chr9:26524400-26524800	Weak transcription	Fetal Brain Female	brain
42	chr9:26524600-26525400	Enhancers	Stomach Smooth Muscle	stomach
43	chr9:26524800-26525000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:26524800-26525200	Enhancers	Fetal Brain Female	brain
45	chr9:26525600-26525800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:26537000-26537600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr9:26537000-26537600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:26539200-26539600	Enhancers	Fetal Muscle Leg	muscle
49	chr9:26543200-26546800	Weak transcription	Fetal Brain Male	brain
50	chr9:26546000-26546400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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