Variant report

Variant	nsv893636
Chromosome Location	chr9:104817599-104921712
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	ARID3A	chr9:104868818-104868993	K562	blood:	n/a	n/a
2	CEBPB	chr9:104865551-104865682	HepG2	liver:	n/a	n/a
3	CEBPB	chr9:104861803-104861860	HepG2	liver:	n/a	chr9:104861817-104861828 chr9:104861819-104861830 chr9:104861817-104861830
4	CEBPB	chr9:104904806-104905159	HepG2	liver:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
5	CEBPB	chr9:104904788-104905091	IMR90	lung:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
6	CEBPB	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
8	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
9	CEBPB	chr9:104847870-104848205	IMR90	lung:	n/a	chr9:104848017-104848028
10	CEBPB	chr9:104847879-104848212	K562	blood:	n/a	chr9:104848017-104848028
11	CEBPB	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr9:104875120-104875776	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr9:104847837-104848131	A549	lung:	n/a	chr9:104848017-104848028
14	CEBPB	chr9:104847891-104848112	H1-hESC	embryonic stem cell:	n/a	chr9:104848017-104848028
15	CEBPB	chr9:104847855-104848192	HepG2	liver:	n/a	chr9:104848017-104848028
16	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
17	CEBPB	chr9:104904860-104905106	A549	lung:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
18	CEBPB	chr9:104871223-104871287	HepG2	liver:	n/a	n/a
19	CEBPB	chr9:104904855-104905126	K562	blood:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
20	CEBPB	chr9:104904848-104905135	H1-hESC	embryonic stem cell:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
21	CHD2	chr9:104886929-104886951	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr9:104915457-104915589	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr9:104915361-104915580	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr9:104857779-104857842	LNCaP	prostate:	n/a	n/a
25	CTCF	chr9:104857756-104857853	Gliobla	brain:	n/a	n/a
26	CTCF	chr9:104876605-104876640	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:104857747-104857825	K562	blood:	n/a	n/a
28	CTCF	chr9:104893512-104893573	GM13976	blood:	n/a	n/a
29	CTCF	chr9:104898695-104898731	GM10248	blood:	n/a	n/a
30	E2F4	chr9:104840762-104840962	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr9:104833736-104833939	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr9:104900220-104900434	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr9:104832347-104832446	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr9:104818931-104818962	GM12878	blood:	n/a	n/a
35	EP300	chr9:104868770-104868990	K562	blood:	n/a	n/a
36	FOS	chr9:104842081-104842279	MCF10A-Er-Src	breast:	n/a	chr9:104842171-104842181 chr9:104842133-104842140 chr9:104842132-104842140 chr9:104842172-104842180
37	FOS	chr9:104842088-104842209	MCF10A-Er-Src	breast:	n/a	chr9:104842171-104842181 chr9:104842133-104842140 chr9:104842132-104842140 chr9:104842172-104842180
38	FOS	chr9:104875508-104875836	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr9:104875499-104875824	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr9:104819678-104819939	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr9:104832256-104832628	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr9:104819640-104819965	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:104875499-104875797	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr9:104908573-104908783	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:104819717-104819875	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr9:104875483-104875835	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:104832240-104832643	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr9:104832244-104832702	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:104832252-104832634	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:104819611-104819981	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
2	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
3	chr11:118868629..118869144-chr9:104880609..104881109,2	MCF-7	breast:
4	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
5	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIN3A-2	chr9:104817534-104818023	NONHSAT133755

Variant related genes	Relation type
ARL2BPP7	TF binding region
ENSG00000255121	chromatin interactions
ENSG00000186166	chromatin interactions

Extended variants
information (count: 1080 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1080 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10989791	chr9:104817599-104817600	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111796431	chr9:104817666-104817667	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542714535	chr9:104817672-104817673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs564007338	chr9:104817752-104817753	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs138479270	chr9:104817755-104817756	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546377887	chr9:104817760-104817761	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs560060683	chr9:104817797-104817798	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs181190994	chr9:104817801-104817802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs370952437	chr9:104817806-104817807	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs548300898	chr9:104817818-104817819	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs568406376	chr9:104817833-104817834	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs537170427	chr9:104817859-104817860	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575046611	chr9:104817907-104817908	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs551081349	chr9:104817926-104817927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs59405424	chr9:104817930-104817931	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs113890589	chr9:104817959-104817960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs149287934	chr9:104818016-104818017	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs144552902	chr9:104818037-104818038	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs563602919	chr9:104818072-104818073	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560821349	chr9:104818074-104818075	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs186370998	chr9:104818083-104818084	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs536123502	chr9:104818094-104818095	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555092639	chr9:104818095-104818096	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575226492	chr9:104818110-104818111	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs60159325	chr9:104818113-104818114	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557872424	chr9:104818130-104818131	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs539846765	chr9:104818244-104818245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190882725	chr9:104818246-104818247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372983739	chr9:104818288-104818289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540039164	chr9:104818318-104818319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180831660	chr9:104818399-104818400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185250829	chr9:104818435-104818436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190797506	chr9:104818436-104818437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562619393	chr9:104818485-104818486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375882985	chr9:104818492-104818493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369988093	chr9:104818497-104818498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532654088	chr9:104818554-104818555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148047993	chr9:104818558-104818559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141812201	chr9:104818559-104818560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527785622	chr9:104818611-104818612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533425782	chr9:104818615-104818616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146298900	chr9:104818666-104818667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567044483	chr9:104818669-104818670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535651856	chr9:104818770-104818771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs993329	chr9:104818795-104818796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562715077	chr9:104818798-104818799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530235503	chr9:104818799-104818800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183396472	chr9:104818843-104818844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139554052	chr9:104818877-104818878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16921194	chr9:104818918-104818919	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Neuroblastoma	20406844	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104808800-104818000	Weak transcription	Pancreas	Pancrea
2	chr9:104815400-104817600	Enhancers	Dnd41	blood
3	chr9:104818000-104818200	ZNF genes & repeats	Pancreas	Pancrea
4	chr9:104818200-104819200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:104818800-104819400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:104825000-104825400	Enhancers	Dnd41	blood
7	chr9:104829200-104829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:104829800-104832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:104831200-104831400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:104831400-104832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:104831800-104833400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:104832200-104832600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:104832400-104832600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:104832400-104832600	Enhancers	Ovary	ovary
15	chr9:104832600-104834000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:104832600-104834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:104832600-104834200	Weak transcription	Ovary	ovary
18	chr9:104833400-104834400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:104834000-104834400	Enhancers	Liver	Liver
20	chr9:104834000-104834600	Enhancers	Fetal Kidney	kidney
21	chr9:104834000-104835000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr9:104834200-104835000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr9:104834200-104835000	Enhancers	Ovary	ovary
24	chr9:104834400-104834600	Flanking Active TSS	Liver	Liver
25	chr9:104834400-104834800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:104834600-104834800	Active TSS	Liver	Liver
27	chr9:104834600-104834800	Flanking Active TSS	Fetal Kidney	kidney
28	chr9:104834800-104835000	Flanking Active TSS	Liver	Liver
29	chr9:104835000-104839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:104835000-104842400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr9:104839200-104840000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr9:104842400-104842600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:104849400-104850000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr9:104849600-104850000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:104875800-104876200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:104876600-104877200	Enhancers	Adipose Nuclei	Adipose
37	chr9:104877200-104877600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr9:104878600-104879600	Enhancers	Fetal Heart	heart
39	chr9:104886400-104886800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:104886600-104887400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:104893200-104893800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:104897000-104897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:104897600-104898400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:104897800-104899000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:104898000-104898400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:104904600-104905000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:104915600-104916000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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