Variant report

Variant	nsv968595
Chromosome Location	chr9:8712523-8714059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:8713594-8713711	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr9:8713570-8713623	A549	lung:	n/a	n/a
3	CTCF	chr9:8713571-8713626	MCF-7	breast:	n/a	n/a
4	POLR2A	chr9:8713477-8713683	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr9:8713290-8713460	MCF-7	breast:	n/a	n/a
6	POLR2A	chr9:8713374-8713420	A549	lung:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:8713437-8713487	HepG2	liver:	n/a
2	chr9:8713664-8713714	NHDF-neo	bronchial:	n/a
3	chr9:8713437-8713487	K562	blood:	n/a
4	chr9:8713788-8713838	HRPEpiC	eye:	n/a
5	chr9:8713437-8713487	SK-N-SH_RA	brain:	n/a
6	chr9:8713664-8713714	MCF10A-Er-Src	breast:	n/a
7	chr9:8713664-8713714	HIPEpiC	eye:	n/a
8	chr9:8713788-8713838	SK-N-SH_RA	brain:	n/a
9	chr9:8713788-8713838	AoSMC	blood vessel:	n/a
10	chr9:8713788-8713838	RPTEC	kidney:	n/a
11	chr9:8713788-8713838	K562	blood:	n/a
12	chr9:8713664-8713714	GM19239	blood:	n/a
13	chr9:8713788-8713838	IMR90	lung:	fetal
14	chr9:8713788-8713838	PFSK-1	brain:	n/a
15	chr9:8713437-8713487	IMR90	lung:	fetal
16	chr9:8713664-8713714	HRPEpiC	eye:	n/a
17	chr9:8713788-8713838	NHDF-neo	bronchial:	n/a
18	chr9:8713788-8713838	A549	lung:	n/a
19	chr9:8713664-8713714	HEK293	kidney:	embryo
20	chr9:8713788-8713838	GM12878	blood:	n/a
21	chr9:8713664-8713714	HCM	heart:	n/a
22	chr9:8713437-8713487	HMEC	breast:	n/a
23	chr9:8713788-8713838	HNPCEpiC	eye:	n/a
24	chr9:8713664-8713714	SK-N-SH_RA	brain:	n/a
25	chr9:8713437-8713487	NH-A	brain:	n/a
26	chr9:8713664-8713714	NH-A	brain:	n/a
27	chr9:8713788-8713838	AG04449	skin:	fetal
28	chr9:8713437-8713487	AG09319	gingival:	n/a
29	chr9:8713664-8713714	NB4	blood:	n/a
30	chr9:8713788-8713838	ECC-1	luminal epithelium:	n/a
31	chr9:8713664-8713714	HL-60	blood:	n/a
32	chr9:8713788-8713838	MCF10A-Er-Src	breast:	n/a
33	chr9:8713437-8713487	SKMC	muscle:	n/a
34	chr9:8713664-8713714	PFSK-1	brain:	n/a
35	chr9:8713437-8713487	AoSMC	blood vessel:	n/a
36	chr9:8713788-8713838	NHBE	bronchial:	n/a
37	chr9:8713788-8713838	T-47D	breast:	n/a
38	chr9:8713788-8713838	U87	brain:	n/a
39	chr9:8713437-8713487	U87	brain:	n/a
40	chr9:8713788-8713838	HCT-116	colon:	n/a
41	chr9:8713664-8713714	SK-N-MC	brain:	n/a
42	chr9:8713664-8713714	NHBE	bronchial:	n/a
43	chr9:8713664-8713714	MCF-7	breast:	n/a
44	chr9:8713788-8713838	AG09309	skin:	n/a
45	chr9:8713788-8713838	HEK293	kidney:	embryo
46	chr9:8713664-8713714	HAEpiC	amniotic membrane:	n/a
47	chr9:8713437-8713487	PrEC	prostate:	n/a
48	chr9:8713788-8713838	AG09319	gingival:	n/a
49	chr9:8713664-8713714	GM06990	blood:	n/a
50	chr9:8713437-8713487	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000212695	TF binding region
ENSG00000212695	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538123720	chr9:8712549-8712550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556420477	chr9:8712577-8712578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10815925	chr9:8712601-8712602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368644212	chr9:8712603-8712604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75141215	chr9:8712671-8712672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553925451	chr9:8712687-8712688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572457181	chr9:8712709-8712710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545990628	chr9:8712733-8712734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557899538	chr9:8712734-8712735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191391019	chr9:8712735-8712736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10977257	chr9:8712737-8712738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111231345	chr9:8712763-8712764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374791498	chr9:8712782-8712783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181132158	chr9:8712805-8712806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529243500	chr9:8712836-8712837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370247866	chr9:8712858-8712859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541022610	chr9:8712868-8712869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62528774	chr9:8712869-8712870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186100567	chr9:8712911-8712912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141246542	chr9:8712931-8712932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13294608	chr9:8712945-8712946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189737128	chr9:8712964-8712965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375581202	chr9:8712989-8712990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138050607	chr9:8712994-8712995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550004381	chr9:8713021-8713022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35154124	chr9:8713054-8713055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149507020	chr9:8713075-8713076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75224924	chr9:8713086-8713087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539893821	chr9:8713150-8713151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557947765	chr9:8713168-8713169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576643901	chr9:8713205-8713206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577725272	chr9:8713207-8713208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369621231	chr9:8713214-8713215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143108781	chr9:8713247-8713248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545590422	chr9:8713271-8713272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555644984	chr9:8713307-8713308	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573932554	chr9:8713317-8713318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7857358	chr9:8713332-8713333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577546055	chr9:8713339-8713340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112272736	chr9:8713343-8713344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183455343	chr9:8713353-8713354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117429409	chr9:8713357-8713358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548061200	chr9:8713374-8713375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187842397	chr9:8713385-8713386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561955771	chr9:8713394-8713395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529509456	chr9:8713419-8713420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10977258	chr9:8713420-8713421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190756251	chr9:8713459-8713460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539433635	chr9:8713471-8713472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551791051	chr9:8713492-8713493	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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	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
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8699600-8717800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:8700800-8718000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:8704400-8731800	Weak transcription	Fetal Lung	lung
4	chr9:8706800-8714400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:8706800-8718000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:8710600-8733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:8711800-8713400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:8712000-8715800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:8712000-8716600	Weak transcription	Brain Angular Gyrus	brain
10	chr9:8712000-8718200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:8712200-8717800	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:8712400-8714400	Weak transcription	Brain Substantia Nigra	brain

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