Variant report

Variant	nsv982311
Chromosome Location	chr9:85041031-85052919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:85051501-85051701	IMR90	lung:	n/a	n/a
2	CTCF	chr9:85043004-85043040	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr9:85047740-85047890	HEK293	kidney:	n/a	n/a
4	CTCF	chr9:85050260-85050410	HEK293	kidney:	n/a	n/a
5	E2F4	chr9:85051827-85051844	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr9:85051367-85051738	MCF10A-Er-Src	breast:	n/a	chr9:85051572-85051580
7	FOS	chr9:85051352-85051728	MCF10A-Er-Src	breast:	n/a	chr9:85051572-85051580
8	FOS	chr9:85052097-85052678	MCF10A-Er-Src	breast:	n/a	chr9:85052177-85052189
9	FOS	chr9:85052097-85052677	MCF10A-Er-Src	breast:	n/a	chr9:85052177-85052189
10	FOS	chr9:85052098-85052556	MCF10A-Er-Src	breast:	n/a	chr9:85052177-85052189
11	FOS	chr9:85052464-85052664	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:85051421-85051709	MCF10A-Er-Src	breast:	n/a	chr9:85051572-85051580
13	FOS	chr9:85051510-85051576	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL2	chr9:85048835-85049078	HepG2	liver:	n/a	n/a
15	FOSL2	chr9:85049033-85049345	HepG2	liver:	n/a	n/a
16	MYC	chr9:85052334-85052373	HUVEC	blood vessel:	n/a	n/a
17	PAX5	chr9:85047088-85047535	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:85042722-85042739	MCF-7	breast:	n/a	n/a
19	POLR2A	chr9:85047734-85048122	GM12878	blood:	n/a	n/a
20	POLR2A	chr9:85045144-85045159	Gliobla	brain:	n/a	n/a
21	POLR2A	chr9:85047090-85047657	GM12878	blood:	n/a	n/a
22	POLR2A	chr9:85043097-85043223	GM12878	blood:	n/a	n/a
23	POLR2A	chr9:85047192-85047543	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:85045270-85045288	Gliobla	brain:	n/a	n/a
25	POLR2A	chr9:85042686-85042775	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr9:85048672-85049373	GM12878	blood:	n/a	n/a
27	POU2F2	chr9:85048734-85049023	GM12878	blood:	n/a	n/a
28	POU2F2	chr9:85047196-85047546	GM12878	blood:	n/a	n/a
29	RCOR1	chr9:85051392-85051818	IMR90	lung:	n/a	n/a
30	SETDB1	chr9:85049886-85050328	U2OS	brain:	n/a	n/a
31	SPI1	chr9:85047230-85047440	GM12878	blood:	n/a	n/a
32	STAT3	chr9:85052061-85052663	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
33	STAT3	chr9:85051356-85051690	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr9:85051350-85051691	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr9:85046084-85046277	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr9:85051967-85052631	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
37	STAT3	chr9:85052043-85052513	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
38	STAT3	chr9:85051308-85051731	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr9:85052146-85052346	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
40	TAF1	chr9:85049074-85049226	Hela-S3	cervix:	n/a	n/a
41	TCF12	chr9:85047210-85047479	GM12878	blood:	n/a	n/a
42	TCF3	chr9:85048826-85049072	GM12878	blood:	n/a	n/a
43	ZBTB33	chr9:85048785-85049035	GM12878	blood:	n/a	n/a
44	ZNF263	chr9:85046187-85046729	HEK293-T-REx	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:84997983..85000625-chr9:85039684..85042502,2	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75D1-4	chr9:85041897-85041941	ENSG00000228430.4
2	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
3	lnc-FAM75D1-4	chr9:85041207-85041291	ENSG00000228430.4
4	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
5	lnc-FAM75B-3	chr9:85042265-85042940	NONHSAT132719
6	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
7	lnc-FAM75B-4	chr9:85051617-85052093	expReg_chr9_3630_-
8	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
9	lnc-FAM75D1-4	chr9:85041207-85041291	ENSG00000228430.4
10	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
11	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
12	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
13	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
14	lnc-FAM75D1-4	chr9:85043114-85043202	NONHSAT132704
15	lnc-FAM75D1-4	chr9:85041207-85041291	ENSG00000228430.4
16	lnc-FAM75D1-3	chr9:85043114-85043202	ENSG00000228430
17	lnc-FAM75D1-4	chr9:85043114-85043202	ENSG00000228430.4
18	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
19	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4
20	lnc-FAM75D1-4	chr9:85043114-85043395	ENSG00000228430.4
21	lnc-FAM75D1-4	chr9:85041207-85041291	ENSG00000228430.4
22	lnc-FAM75D1-4	chr9:85043114-85043208	ENSG00000228430.4

No data

Variant related genes	Relation type
ENSG00000228046	TF binding region
ENSG00000228123	TF binding region

Extended variants
information (count: 356 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200501461	chr9:85041252-85041253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs150802385	chr9:85041899-85041900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs554613403	chr9:85042312-85042313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs71498468	chr9:85042314-85042315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs562066797	chr9:85042348-85042349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs185674952	chr9:85042421-85042422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs541293072	chr9:85042473-85042474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs559654770	chr9:85042493-85042494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs533329016	chr9:85042527-85042528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs13290374	chr9:85042539-85042540	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376210540	chr9:85042552-85042553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs569644354	chr9:85042620-85042621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs191262582	chr9:85042639-85042640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs144807570	chr9:85042662-85042663	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549331616	chr9:85042682-85042683	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs567217180	chr9:85042701-85042702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs13290278	chr9:85042702-85042703	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368121877	chr9:85042727-85042728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs545826668	chr9:85042861-85042862	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs183124542	chr9:85042898-85042899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs538825625	chr9:85042923-85042924	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs557076446	chr9:85042927-85042928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs186277577	chr9:85042933-85042934	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559617412	chr9:85043026-85043027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs547065425	chr9:85043033-85043034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528046831	chr9:85043100-85043101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548328119	chr9:85043111-85043112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563861402	chr9:85043151-85043152	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs531036669	chr9:85043198-85043199	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs549044796	chr9:85043218-85043219	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs560846010	chr9:85043235-85043236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs370407800	chr9:85043264-85043265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs35322167	chr9:85043292-85043293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs528088596	chr9:85043298-85043299	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs546658474	chr9:85043391-85043392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs571270612	chr9:85043394-85043395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs541831562	chr9:85045145-85045146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs183492443	chr9:85045147-85045148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs571967650	chr9:85045274-85045275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs371333409	chr9:85046008-85046009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112405524	chr9:85046022-85046023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112743113	chr9:85046023-85046024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571154724	chr9:85046026-85046027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538042835	chr9:85046066-85046067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs139001059	chr9:85046070-85046071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs2889949	chr9:85046074-85046075	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535148717	chr9:85046083-85046084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553464716	chr9:85046129-85046130	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs539074093	chr9:85046154-85046155	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs547102293	chr9:85046160-85046161	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85046000-85046800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:85046000-85047200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:85048200-85051600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:85051400-85051800	Enhancers	Osteobl	bone
5	chr9:85051400-85052000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:85051400-85052600	Enhancers	NHEK	skin
7	chr9:85051600-85052000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr9:85051600-85052000	Enhancers	NH-A	brain
9	chr9:85051600-85052400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:85051600-85052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:85051600-85052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:85051600-85053400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:85051600-85054000	Enhancers	HMEC	breast
14	chr9:85052000-85053200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:85052400-85053000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:85052400-85053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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