Variant report

Variant	nsv972423
Chromosome Location	chr9:97243765-97254596
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	ATF2	chr9:97254373-97254805	GM12878	blood:	n/a	n/a
2	BACH1	chr9:97253962-97254037	K562	blood:	n/a	n/a
3	BATF	chr9:97254388-97254700	GM12878	blood:	n/a	chr9:97254488-97254498
4	BATF	chr9:97254351-97254686	GM12878	blood:	n/a	chr9:97254488-97254498
5	BCL11A	chr9:97254407-97254725	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:97254340-97254738	GM12878	blood:	n/a	n/a
7	BCLAF1	chr9:97254424-97254735	GM12878	blood:	n/a	n/a
8	CEBPB	chr9:97244459-97244593	HepG2	liver:	n/a	chr9:97244556-97244567
9	CEBPB	chr9:97244434-97244704	K562	blood:	n/a	chr9:97244556-97244567
10	CHD2	chr9:97254498-97254513	GM12878	blood:	n/a	n/a
11	EP300	chr9:97254522-97254731	GM12878	blood:	n/a	chr9:97254599-97254613
12	EP300	chr9:97254487-97254682	GM12878	blood:	n/a	chr9:97254487-97254496 chr9:97254599-97254613
13	EP300	chr9:97254481-97254557	GM12878	blood:	n/a	chr9:97254487-97254496
14	EP300	chr9:97253972-97254010	K562	blood:	n/a	n/a
15	FOS	chr9:97254435-97254563	MCF10A-Er-Src	breast:	n/a	chr9:97254486-97254497 chr9:97254487-97254494 chr9:97254487-97254496 chr9:97254485-97254497
16	GATA2	chr9:97249715-97249857	SH-SY5Y	brain:	n/a	chr9:97249751-97249772 chr9:97249758-97249765 chr9:97249753-97249769 chr9:97249758-97249765 chr9:97249758-97249765
17	GTF2F1	chr9:97249913-97249934	K562	blood:	n/a	n/a
18	JUND	chr9:97254366-97254636	HepG2	liver:	n/a	chr9:97254486-97254497 chr9:97254487-97254494 chr9:97254487-97254496 chr9:97254485-97254496 chr9:97254485-97254497
19	JUND	chr9:97250252-97250412	HepG2	liver:	n/a	n/a
20	PAX5	chr9:97254382-97254693	GM12878	blood:	n/a	n/a
21	PAX5	chr9:97254443-97254705	GM12878	blood:	n/a	n/a
22	PAX5	chr9:97254411-97254878	GM12878	blood:	n/a	n/a
23	PAX5	chr9:97254494-97254614	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:97251245-97251254	GM12878	blood:	n/a	n/a
25	POLR2A	chr9:97244040-97244203	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr9:97244607-97244835	K562	blood:	n/a	n/a
27	POLR2A	chr9:97254169-97254311	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr9:97251102-97251150	GM12878	blood:	n/a	n/a
29	POU2F2	chr9:97254370-97254913	GM12891	blood:	n/a	chr9:97254510-97254525
30	POU2F2	chr9:97254364-97254731	GM12878	blood:	n/a	chr9:97254510-97254525
31	RCOR1	chr9:97254528-97254746	GM12878	blood:	n/a	n/a
32	RCOR1	chr9:97252865-97252962	K562	blood:	n/a	n/a
33	REST	chr9:97252548-97253297	PFSK-1	brain:	n/a	n/a
34	REST	chr9:97252838-97253003	HepG2	liver:	n/a	n/a
35	REST	chr9:97252526-97253354	ECC-1	luminal epithelium:	n/a	n/a
36	REST	chr9:97252810-97253101	GM12878	blood:	n/a	n/a
37	REST	chr9:97252740-97253185	PANC-1	pancreas:	n/a	n/a
38	REST	chr9:97252659-97253137	GM12878	blood:	n/a	n/a
39	REST	chr9:97252780-97253044	HepG2	liver:	n/a	n/a
40	REST	chr9:97252695-97253150	K562	blood:	n/a	n/a
41	REST	chr9:97252560-97253291	PFSK-1	brain:	n/a	n/a
42	REST	chr9:97252553-97253227	MCF-7	breast:	n/a	n/a
43	REST	chr9:97252610-97253190	PANC-1	pancreas:	n/a	n/a
44	REST	chr9:97252511-97253326	SK-N-SH	brain:	n/a	n/a
45	REST	chr9:97252839-97253024	GM12878	blood:	n/a	n/a
46	REST	chr9:97252468-97253409	ECC-1	luminal epithelium:	n/a	n/a
47	REST	chr9:97252820-97253039	U87	brain:	n/a	n/a
48	REST	chr9:97252817-97253053	PFSK-1	brain:	n/a	n/a
49	REST	chr9:97252423-97253290	A549	lung:	n/a	n/a
50	REST	chr9:97252789-97253013	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:97242816..97244907-chr9:97253508..97257110,3	MCF-7	breast:
2	chr9:97240021..97241980-chr9:97249433..97252135,2	K562	blood:
3	chr9:97242816..97244907-chr9:97253508..97257110,3	MCF-7	breast:
4	chr9:97245654..97249341-chr9:97260999..97264040,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIATL1-1	chr9:97247982-97248066	ENSG00000235311
2	lnc-HIATL1-8	chr9:97246601-97247410	NONHSAT133316
3	lnc-FBP2-3	chr9:97249934-97250102	NONHSAT133317
4	lnc-HIATL1-1	chr9:97250008-97250077	ENSG00000235311
5	lnc-FBP2-3	chr9:97247734-97248160	NONHSAT133317

Variant related genes	Relation type
ENSG00000224245	TF binding region

Extended variants
information (count: 514 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7868703	chr9:97243786-97243787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532561660	chr9:97243884-97243885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10993206	chr9:97243943-97243944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564638546	chr9:97243944-97243945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200056351	chr9:97244008-97244009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547455004	chr9:97244018-97244019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560430730	chr9:97244025-97244026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545727296	chr9:97244027-97244028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189239578	chr9:97244046-97244047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16911832	chr9:97244059-97244060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs9409561	chr9:97244081-97244082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538000092	chr9:97244156-97244157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549865331	chr9:97244161-97244162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377556240	chr9:97244213-97244214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571230964	chr9:97244224-97244225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144512379	chr9:97244251-97244252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549909558	chr9:97244253-97244254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553476058	chr9:97244257-97244258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148433231	chr9:97244277-97244278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191273106	chr9:97244293-97244294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568400205	chr9:97244314-97244315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76846982	chr9:97244326-97244327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554801490	chr9:97244407-97244408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184935898	chr9:97244463-97244464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547907195	chr9:97244482-97244483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201672555	chr9:97244509-97244510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142548551	chr9:97244524-97244525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12004014	chr9:97244531-97244532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs28477240	chr9:97244557-97244558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541456119	chr9:97244562-97244563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367713370	chr9:97244618-97244619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558357942	chr9:97244629-97244630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530072367	chr9:97244655-97244656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549309840	chr9:97244707-97244708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189466633	chr9:97244714-97244715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140875692	chr9:97244732-97244733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9409779	chr9:97244739-97244740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs549692447	chr9:97244740-97244741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571357190	chr9:97244747-97244748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181720773	chr9:97244756-97244757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547422370	chr9:97244794-97244795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565345882	chr9:97244800-97244801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535809622	chr9:97244860-97244861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554864459	chr9:97244861-97244862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576306966	chr9:97244881-97244882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537687765	chr9:97244882-97244883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537711028	chr9:97244903-97244904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558875209	chr9:97244909-97244910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577315441	chr9:97244911-97244912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555928929	chr9:97244932-97244933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97241200-97243800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:97241800-97262800	Weak transcription	Liver	Liver
3	chr9:97243000-97243800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:97244200-97244800	Weak transcription	Stomach Mucosa	stomach
5	chr9:97244800-97246000	Enhancers	Stomach Mucosa	stomach
6	chr9:97254000-97255400	Enhancers	GM12878-XiMat	blood

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