Variant report

Variant	nsv982313
Chromosome Location	chr9:86683194-86695733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:86691048-86691355	K562	blood:	n/a	n/a
2	BHLHE40	chr9:86691087-86691287	HepG2	liver:	n/a	n/a
3	CBX3	chr9:86685563-86685798	K562	blood:	n/a	n/a
4	CHD2	chr9:86685589-86685878	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr9:86685570-86685904	HepG2	liver:	n/a	n/a
6	CHD2	chr9:86685568-86685955	K562	blood:	n/a	n/a
7	CTCF	chr9:86694073-86694138	Lung_OC	lung:	n/a	n/a
8	E2F6	chr9:86685566-86685766	K562	blood:	n/a	n/a
9	E2F6	chr9:86685425-86685924	H1-hESC	embryonic stem cell:	n/a	n/a
10	ELK1	chr9:86683861-86684157	K562	blood:	n/a	n/a
11	FOXA1	chr9:86693806-86694037	T-47D	breast:	n/a	n/a
12	FOXA1	chr9:86693841-86693994	T-47D	breast:	n/a	n/a
13	GATA3	chr9:86693300-86693423	SH-SY5Y	brain:	n/a	n/a
14	JUND	chr9:86695042-86695092	K562	blood:	n/a	n/a
15	MAX	chr9:86685555-86685901	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr9:86685511-86685818	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr9:86685480-86685785	K562	blood:	n/a	n/a
18	MAX	chr9:86685574-86685708	K562	blood:	n/a	n/a
19	MAX	chr9:86685538-86685833	HepG2	liver:	n/a	n/a
20	POLR2A	chr9:86686933-86686956	MCF10A-Er-Src	breast:	n/a	n/a
21	RCOR1	chr9:86695042-86695181	K562	blood:	n/a	n/a
22	SPI1	chr9:86689964-86690178	GM12878	blood:	n/a	n/a
23	SPI1	chr9:86694951-86695272	HL-60	blood:	n/a	n/a
24	SPI1	chr9:86689939-86690168	GM12891	blood:	n/a	n/a
25	SPI1	chr9:86694906-86695261	HL-60	blood:	n/a	n/a
26	SPI1	chr9:86695008-86695211	K562	blood:	n/a	n/a
27	SRF	chr9:86683767-86684183	H1-hESC	embryonic stem cell:	n/a	chr9:86683964-86683982
28	SRF	chr9:86683720-86684200	ECC-1	luminal epithelium:	n/a	chr9:86683964-86683982
29	SRF	chr9:86683799-86684124	H1-hESC	embryonic stem cell:	n/a	chr9:86683964-86683982
30	SRF	chr9:86683723-86684314	MCF-7	breast:	n/a	chr9:86683964-86683982
31	SRF	chr9:86683871-86684011	HepG2	liver:	n/a	chr9:86683964-86683982
32	USF1	chr9:86691051-86691311	K562	blood:	n/a	n/a
33	ZBTB33	chr9:86685537-86685951	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:86693838..86695435-chr9:86695774..86698504,2	MCF-7	breast:
2	chr9:86594149..86596782-chr9:86685649..86687855,2	K562	blood:
3	chr9:86663038..86665601-chr9:86690355..86692187,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RMI1-2	chr9:86692821-86693002	ENSG00000227463.2
2	lnc-RMI1-2	chr9:86690343-86690763	ENSG00000227463.2
3	lnc-RMI1-8	chr9:86693499-86693772	NONHSAT132772
4	lnc-RMI1-2	chr9:86690576-86690763	ENSG00000227463.1

No data

Variant related genes	Relation type
ENSG00000270166	TF binding region
ENSG00000165119	chromatin interactions
ENSG00000178966	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35470295	chr9:86683197-86683198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13288669	chr9:86683233-86683234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182282967	chr9:86683271-86683272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112348594	chr9:86683332-86683333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551683830	chr9:86685608-86685609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570034748	chr9:86685678-86685679	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556579396	chr9:86685710-86685711	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs4877819	chr9:86685730-86685731	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545709445	chr9:86685731-86685732	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567704765	chr9:86685767-86685768	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534853012	chr9:86685768-86685769	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568053705	chr9:86685809-86685810	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553323075	chr9:86685823-86685824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563074590	chr9:86685834-86685835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs578096975	chr9:86685842-86685843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545304252	chr9:86685871-86685872	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557267396	chr9:86685914-86685915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575628582	chr9:86685921-86685922	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542806570	chr9:86685946-86685947	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113674190	chr9:86685977-86685978	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs199999647	chr9:86686001-86686002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528177815	chr9:86686043-86686044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371251461	chr9:86686216-86686217	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564874644	chr9:86686248-86686249	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs72749164	chr9:86686274-86686275	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550176247	chr9:86686352-86686353	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs572700453	chr9:86686396-86686397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs200932044	chr9:86686436-86686437	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569974432	chr9:86686442-86686443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs188262612	chr9:86686461-86686462	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531113137	chr9:86686502-86686503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549552262	chr9:86686592-86686593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567804382	chr9:86686593-86686594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535104172	chr9:86686594-86686595	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553221650	chr9:86686595-86686596	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs571792345	chr9:86686596-86686597	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148492912	chr9:86686715-86686716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs557403837	chr9:86686716-86686717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575604183	chr9:86686843-86686844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs143730540	chr9:86686852-86686853	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541236118	chr9:86686864-86686865	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs572979735	chr9:86686913-86686914	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11559389	chr9:86686916-86686917	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371083007	chr9:86686930-86686931	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs140697554	chr9:86686953-86686954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373710012	chr9:86686960-86686961	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs532086793	chr9:86687034-86687035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113271053	chr9:86687178-86687179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562191140	chr9:86687210-86687211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531100778	chr9:86687326-86687327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86682800-86683400	Enhancers	Brain Germinal Matrix	brain
2	chr9:86685600-86685800	Enhancers	Pancreas	Pancrea
3	chr9:86685800-86687600	Weak transcription	Pancreas	Pancrea
4	chr9:86687600-86688000	Enhancers	Fetal Intestine Large	intestine
5	chr9:86687600-86688000	Enhancers	Pancreas	Pancrea
6	chr9:86688000-86688400	Enhancers	Stomach Mucosa	stomach
7	chr9:86688000-86690800	Weak transcription	Fetal Intestine Large	intestine
8	chr9:86690800-86691400	Enhancers	Fetal Intestine Large	intestine
9	chr9:86690800-86691800	Enhancers	Colonic Mucosa	Colon
10	chr9:86690800-86691800	Enhancers	Fetal Intestine Small	intestine
11	chr9:86690800-86692000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr9:86691000-86691800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:86691200-86692000	Enhancers	Duodenum Mucosa	Duodenum
14	chr9:86693600-86693800	Enhancers	Adipose Nuclei	Adipose
15	chr9:86693600-86694400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:86693800-86694400	Weak transcription	Adipose Nuclei	Adipose
17	chr9:86694400-86696000	Enhancers	Adipose Nuclei	Adipose
18	chr9:86695000-86695200	Enhancers	Hela-S3	cervix
19	chr9:86695000-86695200	Bivalent Enhancer	HepG2	liver
20	chr9:86695600-86696000	Enhancers	Spleen	Spleen

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