Variant report

Variant	nsv892243
Chromosome Location	chr9:8885476-8898464
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	BHLHE40	chr9:8895967-8895969	A549	lung:	n/a	n/a
2	CEBPB	chr9:8889203-8889415	K562	blood:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
3	CEBPB	chr9:8889126-8889470	H1-hESC	embryonic stem cell:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
4	CEBPB	chr9:8889133-8889482	HepG2	liver:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
5	CEBPB	chr9:8889118-8889488	A549	lung:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
6	CEBPB	chr9:8889113-8889435	A549	lung:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
7	CEBPB	chr9:8889121-8889489	IMR90	lung:	n/a	chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889298-8889307 chr9:8889296-8889307
8	CTCF	chr9:8895800-8895950	HCM	heart:	n/a	n/a
9	CTCF	chr9:8895812-8896081	Medullo	brain:	n/a	n/a
10	CTCF	chr9:8895920-8896070	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr9:8895824-8896096	T-47D	breast:	n/a	n/a
12	CTCF	chr9:8895880-8896030	AG09319	gingival:	n/a	n/a
13	CTCF	chr9:8895820-8895970	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr9:8895880-8896030	Caco-2	colon:	n/a	n/a
15	CTCF	chr9:8896236-8896309	GM10248	blood:	n/a	n/a
16	CTCF	chr9:8895900-8896050	GM12878	blood:	n/a	n/a
17	CTCF	chr9:8895880-8896030	NB4	blood:	n/a	n/a
18	CTCF	chr9:8895880-8896030	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr9:8895860-8896010	GM12878	blood:	n/a	n/a
20	CTCF	chr9:8895877-8895982	MCF-7	breast:	n/a	n/a
21	CTCF	chr9:8895880-8896030	HMF	breast:	n/a	n/a
22	CTCF	chr9:8895860-8896010	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr9:8895780-8895930	NHLF	lung:	n/a	n/a
24	CTCF	chr9:8895800-8895950	GM12869	blood:	n/a	n/a
25	CTCF	chr9:8895840-8895990	GM12865	blood:	n/a	n/a
26	CTCF	chr9:8895840-8895990	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr9:8895829-8896046	GM12878	blood:	n/a	n/a
28	CTCF	chr9:8896140-8896290	GM12864	blood:	n/a	n/a
29	CTCF	chr9:8896280-8896430	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr9:8895900-8896050	GM12868	blood:	n/a	n/a
31	CTCF	chr9:8895900-8896050	GM06990	blood:	n/a	n/a
32	CTCF	chr9:8895860-8896010	HRE	kidney:	n/a	n/a
33	CTCF	chr9:8895900-8896050	HepG2	liver:	n/a	n/a
34	CTCF	chr9:8895880-8896030	GM12875	blood:	n/a	n/a
35	CTCF	chr9:8895860-8896010	HPF	lung:	n/a	n/a
36	CTCF	chr9:8895920-8896070	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr9:8895836-8896050	LNCaP	prostate:	n/a	n/a
38	CTCF	chr9:8895880-8896030	HVMF	connective:	n/a	n/a
39	CTCF	chr9:8895800-8895950	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr9:8895916-8895953	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr9:8895820-8895970	GM12873	blood:	n/a	n/a
42	CTCF	chr9:8895860-8896010	GM12872	blood:	n/a	n/a
43	CTCF	chr9:8895901-8895962	K562	blood:	n/a	n/a
44	CTCF	chr9:8895780-8895930	GM12865	blood:	n/a	n/a
45	CTCF	chr9:8895840-8895990	BJ	skin:	n/a	n/a
46	CTCF	chr9:8895819-8896119	HepG2	liver:	n/a	n/a
47	CTCF	chr9:8895820-8895970	GM12867	blood:	n/a	n/a
48	CTCF	chr9:8895860-8896010	GM12873	blood:	n/a	n/a
49	CTCF	chr9:8895541-8896238	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr9:8895960-8896110	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:7569797..7570734-chr9:8895690..8896630,4	MCF-7	breast:
2	chr9:8485590..8486306-chr9:8895648..8896453,2	MCF-7	breast:
3	chr9:7844225..7844973-chr9:8895548..8896327,4	MCF-7	breast:
4	chr9:7569880..7570683-chr9:8895710..8896327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251699	TF binding region
ENSG00000153707	chromatin interactions

Extended variants
information (count: 585 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10759014	chr9:8885476-8885477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35568734	chr9:8885489-8885490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139456920	chr9:8885516-8885517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532697998	chr9:8885518-8885519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112621206	chr9:8885583-8885584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148934737	chr9:8885590-8885591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530036991	chr9:8885592-8885593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548351015	chr9:8885604-8885605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556706918	chr9:8885646-8885647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566969181	chr9:8885657-8885658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375264911	chr9:8885684-8885685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371325921	chr9:8885732-8885733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13296407	chr9:8885737-8885738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12338219	chr9:8885739-8885740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111375062	chr9:8885746-8885747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570743174	chr9:8885776-8885777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538180804	chr9:8885787-8885788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187322535	chr9:8885788-8885789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145627404	chr9:8885822-8885823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12347129	chr9:8885835-8885836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541820671	chr9:8885849-8885850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553208692	chr9:8885868-8885869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138355951	chr9:8885883-8885884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544377297	chr9:8885900-8885901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191857280	chr9:8885901-8885902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183983663	chr9:8885902-8885903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565176475	chr9:8885929-8885930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141294153	chr9:8885961-8885962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544553425	chr9:8885965-8885966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562849924	chr9:8885972-8885973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572394591	chr9:8886004-8886005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556416123	chr9:8886027-8886028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10815987	chr9:8886053-8886054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566827408	chr9:8886069-8886070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78242377	chr9:8886125-8886126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552389157	chr9:8886139-8886140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13300978	chr9:8886150-8886151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538041043	chr9:8886159-8886160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556457028	chr9:8886164-8886165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74554074	chr9:8886212-8886213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188084289	chr9:8886256-8886257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34004864	chr9:8886317-8886318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553760128	chr9:8886356-8886357	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs192366077	chr9:8886516-8886517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545926925	chr9:8886522-8886523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4740967	chr9:8886567-8886568	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563840743	chr9:8886634-8886635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563976632	chr9:8886658-8886659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544415197	chr9:8886696-8886697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1433543	chr9:8886723-8886724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8879600-8886200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:8879600-8887000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:8880000-8891600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:8880200-8891800	Weak transcription	Brain Substantia Nigra	brain
5	chr9:8884000-8886800	Weak transcription	Fetal Intestine Small	intestine
6	chr9:8884000-8887200	Weak transcription	Colonic Mucosa	Colon
7	chr9:8884000-8887200	Weak transcription	Fetal Intestine Large	intestine
8	chr9:8884400-8886200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:8884400-8887000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:8886200-8887200	Enhancers	Brain Cingulate Gyrus	brain
11	chr9:8886200-8887200	Enhancers	Fetal Lung	lung
12	chr9:8886200-8888200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:8886400-8888200	Enhancers	Brain Hippocampus Middle	brain
14	chr9:8886800-8888200	Enhancers	Fetal Intestine Small	intestine
15	chr9:8887000-8887400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr9:8887200-8887400	Enhancers	Duodenum Mucosa	Duodenum
17	chr9:8887200-8887600	Enhancers	Fetal Intestine Large	intestine
18	chr9:8887200-8888000	Enhancers	Colonic Mucosa	Colon
19	chr9:8887200-8888400	Enhancers	Dnd41	blood
20	chr9:8887200-8890400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:8887400-8888400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:8888200-8890400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:8888400-8890800	Weak transcription	Dnd41	blood
24	chr9:8888400-8895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:8888600-8888800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:8888600-8888800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr9:8888800-8891600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:8889800-8895600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:8890400-8890600	Enhancers	Brain Anterior Caudate	brain
30	chr9:8890400-8890600	Enhancers	Brain Hippocampus Middle	brain
31	chr9:8890400-8892200	Enhancers	Brain Cingulate Gyrus	brain
32	chr9:8890600-8891000	Enhancers	Fetal Heart	heart
33	chr9:8890600-8891800	Weak transcription	Brain Anterior Caudate	brain
34	chr9:8890800-8891000	Enhancers	Dnd41	blood
35	chr9:8891000-8895000	Weak transcription	Fetal Heart	heart
36	chr9:8891600-8892000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr9:8891600-8892000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:8891600-8892000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr9:8891600-8892200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:8891600-8892200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:8891600-8892400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:8891600-8892400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:8891600-8892400	Enhancers	Brain Angular Gyrus	brain
44	chr9:8891600-8896400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:8891800-8892200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:8891800-8892200	Enhancers	Brain Substantia Nigra	brain
47	chr9:8891800-8892400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:8891800-8892400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:8891800-8892400	Enhancers	Brain Anterior Caudate	brain
50	chr9:8891800-8892400	Enhancers	Brain Hippocampus Middle	brain

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