Variant report

Variant	nsv615012
Chromosome Location	chr9:104760482-104879699
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	BHLHE40	chr9:104808797-104808879	HepG2	liver:	n/a	n/a
3	CEBPB	chr9:104795979-104796078	HepG2	liver:	n/a	chr9:104796033-104796044 chr9:104796032-104796045
4	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
5	CEBPB	chr9:104847837-104848131	A549	lung:	n/a	chr9:104848017-104848028
6	CEBPB	chr9:104875120-104875776	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr9:104847879-104848212	K562	blood:	n/a	chr9:104848017-104848028
8	CEBPB	chr9:104847870-104848205	IMR90	lung:	n/a	chr9:104848017-104848028
9	CEBPB	chr9:104871223-104871287	HepG2	liver:	n/a	n/a
10	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
11	CEBPB	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr9:104847891-104848112	H1-hESC	embryonic stem cell:	n/a	chr9:104848017-104848028
13	CEBPB	chr9:104865551-104865682	HepG2	liver:	n/a	n/a
14	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:104770107-104770211	A549	lung:	n/a	n/a
16	CEBPB	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr9:104847855-104848192	HepG2	liver:	n/a	chr9:104848017-104848028
18	CEBPB	chr9:104861803-104861860	HepG2	liver:	n/a	chr9:104861817-104861828 chr9:104861819-104861830 chr9:104861817-104861830
19	CEBPB	chr9:104804246-104804649	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr9:104857779-104857842	LNCaP	prostate:	n/a	n/a
21	CTCF	chr9:104857756-104857853	Gliobla	brain:	n/a	n/a
22	CTCF	chr9:104876605-104876640	MCF-7	breast:	n/a	n/a
23	CTCF	chr9:104769255-104769276	MCF-7	breast:	n/a	n/a
24	CTCF	chr9:104857747-104857825	K562	blood:	n/a	n/a
25	CTCF	chr9:104808787-104808821	ProgFib	skin:	n/a	n/a
26	E2F4	chr9:104833736-104833939	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr9:104832347-104832446	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr9:104814441-104814586	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr9:104840762-104840962	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr9:104805696-104805816	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr9:104809970-104810071	GM12878	blood:	n/a	chr9:104810008-104810019
32	EBF1	chr9:104818931-104818962	GM12878	blood:	n/a	n/a
33	EP300	chr9:104761591-104762420	ECC-1	luminal epithelium:	n/a	n/a
34	EP300	chr9:104868770-104868990	K562	blood:	n/a	n/a
35	EP300	chr9:104761621-104762196	ECC-1	luminal epithelium:	n/a	n/a
36	ESR1	chr9:104761577-104762198	ECC-1	luminal epithelium:	n/a	n/a
37	ESR1	chr9:104761625-104762132	ECC-1	luminal epithelium:	n/a	n/a
38	ESR1	chr9:104761657-104762101	ECC-1	luminal epithelium:	n/a	n/a
39	ESR1	chr9:104761619-104762190	ECC-1	luminal epithelium:	n/a	n/a
40	ESR1	chr9:104761587-104762152	ECC-1	luminal epithelium:	n/a	n/a
41	ESR1	chr9:104761725-104762050	ECC-1	luminal epithelium:	n/a	n/a
42	FAM48A	chr9:104803228-104803287	GM12878	blood:	n/a	n/a
43	FOS	chr9:104815334-104815635	MCF10A-Er-Src	breast:	n/a	chr9:104815481-104815493 chr9:104815482-104815492 chr9:104815483-104815492 chr9:104815483-104815490 chr9:104815482-104815492 chr9:104815482-104815491
44	FOS	chr9:104842088-104842209	MCF10A-Er-Src	breast:	n/a	chr9:104842171-104842181 chr9:104842133-104842140 chr9:104842132-104842140 chr9:104842172-104842180
45	FOS	chr9:104875499-104875824	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr9:104875483-104875835	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:104819678-104819939	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr9:104817183-104817302	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:104875508-104875836	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:104875499-104875797	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
2	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
3	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
4	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
5	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
6	chr8:142134647..142136266-chr9:104766043..104767800,2	MCF-7	breast:
7	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf107-7	chr9:104810504-104810756	NONHSAT133754
2	lnc-GRIN3A-2	chr9:104817534-104818023	NONHSAT133755
3	lnc-C9orf107-7	chr9:104811295-104811420	NONHSAT133754

Variant related genes	Relation type
ARL2BPP7	TF binding region

Extended variants
information (count: 1497 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1497 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1935381	chr9:104760482-104760483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563777272	chr9:104760512-104760513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117713423	chr9:104760519-104760520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530888015	chr9:104760521-104760522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552821645	chr9:104760545-104760546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372155378	chr9:104760554-104760555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183150301	chr9:104760566-104760567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565059123	chr9:104760568-104760569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1418246	chr9:104760577-104760578	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1418245	chr9:104760604-104760605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs568650049	chr9:104760646-104760647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563197123	chr9:104760662-104760663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146921011	chr9:104760690-104760691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114245318	chr9:104760704-104760705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187769199	chr9:104760716-104760717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552632418	chr9:104760753-104760754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1418244	chr9:104760764-104760765	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374849432	chr9:104760866-104760867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191920204	chr9:104760868-104760869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137913583	chr9:104760881-104760882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1418243	chr9:104760894-104760895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2185712	chr9:104760923-104760924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532537341	chr9:104760944-104760945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375490799	chr9:104760957-104760958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546693131	chr9:104760967-104760968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111750996	chr9:104760990-104760991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559589553	chr9:104761016-104761017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528723969	chr9:104761144-104761145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548453972	chr9:104761182-104761183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568738864	chr9:104761202-104761203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182854969	chr9:104761222-104761223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150125458	chr9:104761231-104761232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557789443	chr9:104761260-104761261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570144779	chr9:104761269-104761270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539021838	chr9:104761299-104761300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188843970	chr9:104761331-104761332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138580484	chr9:104761332-104761333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1935380	chr9:104761344-104761345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555245804	chr9:104761357-104761358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575511659	chr9:104761373-104761374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544552921	chr9:104761440-104761441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376336574	chr9:104761451-104761452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200455279	chr9:104761454-104761455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149305513	chr9:104761482-104761483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577359374	chr9:104761496-104761497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1935379	chr9:104761516-104761517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559806865	chr9:104761570-104761571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192632045	chr9:104761587-104761588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533203930	chr9:104761594-104761595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528528000	chr9:104761616-104761617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104760000-104761400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:104761400-104764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:104761600-104762600	Enhancers	Fetal Heart	heart
4	chr9:104762600-104765800	Weak transcription	Fetal Heart	heart
5	chr9:104764400-104764600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:104765800-104766000	Active TSS	Fetal Heart	heart
7	chr9:104770400-104770600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:104779800-104780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:104797000-104797400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:104798200-104798400	Enhancers	Liver	Liver
11	chr9:104808600-104808800	Enhancers	Gastric	stomach
12	chr9:104808600-104808800	ZNF genes & repeats	Pancreas	Pancrea
13	chr9:104808600-104808800	Enhancers	Psoas Muscle	Psoas
14	chr9:104808800-104818000	Weak transcription	Pancreas	Pancrea
15	chr9:104810000-104811600	Enhancers	Dnd41	blood
16	chr9:104811000-104812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:104811600-104812600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:104811600-104812600	Flanking Active TSS	Dnd41	blood
19	chr9:104811800-104812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:104811800-104812200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:104812000-104812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr9:104812000-104812200	Active TSS	Adipose Nuclei	Adipose
23	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:104812000-104812400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:104812000-104812400	Active TSS	Liver	Liver
27	chr9:104812000-104812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:104812000-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:104812200-104812400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr9:104812200-104812400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:104812200-104812600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr9:104812400-104812800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:104812600-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:104812600-104813400	Enhancers	Dnd41	blood
35	chr9:104813400-104815400	Weak transcription	Dnd41	blood
36	chr9:104813400-104815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:104814800-104816200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:104815400-104817600	Enhancers	Dnd41	blood
39	chr9:104815600-104816600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:104815800-104816600	Enhancers	Fetal Kidney	kidney
41	chr9:104818000-104818200	ZNF genes & repeats	Pancreas	Pancrea
42	chr9:104818200-104819200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:104818800-104819400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr9:104825000-104825400	Enhancers	Dnd41	blood
45	chr9:104829200-104829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:104829800-104832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr9:104831200-104831400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr9:104831400-104832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr9:104831800-104833400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:104832200-104832600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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