Variant report

Variant	nsv615013
Chromosome Location	chr9:104811726-104840519
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	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
2	CEBPB	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
4	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
5	CEBPB	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
6	E2F4	chr9:104814441-104814586	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr9:104832347-104832446	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr9:104833736-104833939	MCF10A-Er-Src	breast:	n/a	n/a
9	EBF1	chr9:104818931-104818962	GM12878	blood:	n/a	n/a
10	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
11	FOS	chr9:104832252-104832634	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:104815346-104815651	MCF10A-Er-Src	breast:	n/a	chr9:104815481-104815493 chr9:104815482-104815492 chr9:104815483-104815492 chr9:104815483-104815490 chr9:104815482-104815492 chr9:104815482-104815491
13	FOS	chr9:104832244-104832702	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr9:104815386-104815609	MCF10A-Er-Src	breast:	n/a	chr9:104815481-104815493 chr9:104815482-104815492 chr9:104815483-104815492 chr9:104815483-104815490 chr9:104815482-104815492 chr9:104815482-104815491
15	FOS	chr9:104817217-104817271	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr9:104817183-104817302	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr9:104819640-104819965	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr9:104819611-104819981	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr9:104819717-104819875	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr9:104832256-104832628	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr9:104819678-104819939	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:104832240-104832643	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:104815320-104815662	MCF10A-Er-Src	breast:	n/a	chr9:104815481-104815493 chr9:104815482-104815492 chr9:104815483-104815492 chr9:104815483-104815490 chr9:104815482-104815492 chr9:104815482-104815491
24	GATA1	chr9:104815053-104815908	PBDE	blood:	n/a	chr9:104815523-104815532 chr9:104815519-104815535 chr9:104815516-104815537 chr9:104815522-104815532
25	IRF1	chr9:104811936-104812261	K562	blood:	n/a	n/a
26	JUN	chr9:104815803-104815895	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUND	chr9:104832386-104832500	HepG2	liver:	n/a	chr9:104832430-104832441
28	JUND	chr9:104815398-104815544	K562	blood:	n/a	chr9:104815481-104815493 chr9:104815482-104815492 chr9:104815483-104815492 chr9:104815483-104815490 chr9:104815482-104815492 chr9:104815482-104815491
29	MAFF	chr9:104830445-104830716	HepG2	liver:	n/a	chr9:104830572-104830590
30	MAFK	chr9:104830420-104830739	HepG2	liver:	n/a	chr9:104830573-104830588
31	MAFK	chr9:104830431-104830704	HepG2	liver:	n/a	chr9:104830573-104830588
32	MAFK	chr9:104830459-104830726	IMR90	lung:	n/a	chr9:104830573-104830588
33	MAX	chr9:104832040-104832588	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr9:104832195-104832591	ECC-1	luminal epithelium:	n/a	n/a
35	MYC	chr9:104832271-104832655	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr9:104832222-104832546	MCF10A-Er-Src	breast:	n/a	n/a
37	NFIC	chr9:104832158-104832674	ECC-1	luminal epithelium:	n/a	n/a
38	NFIC	chr9:104832103-104832792	ECC-1	luminal epithelium:	n/a	n/a
39	NR3C1	chr9:104834657-104834982	ECC-1	luminal epithelium:	n/a	n/a
40	NR3C1	chr9:104832324-104832551	ECC-1	luminal epithelium:	n/a	n/a
41	NR3C1	chr9:104834671-104835025	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr9:104835761-104835867	MCF-7	breast:	n/a	n/a
43	POLR2A	chr9:104818063-104818129	A549	lung:	n/a	n/a
44	POLR2A	chr9:104817970-104817976	Gliobla	brain:	n/a	n/a
45	POLR2A	chr9:104834174-104834236	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr9:104837295-104837514	MCF-7	breast:	n/a	n/a
47	POLR2A	chr9:104818043-104818122	MCF-7	breast:	n/a	n/a
48	POLR2A	chr9:104817992-104818132	Gliobla	brain:	n/a	n/a
49	POLR2A	chr9:104829411-104829470	MCF-7	breast:	n/a	n/a
50	POLR2A	chr9:104832452-104832580	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
2	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
3	chr9:104790240..104792584-chr9:104811133..104813780,2	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

Extended variants
information (count: 822 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2839950	chr9:104811726-104811727	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183838427	chr9:104811785-104811786	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs143062270	chr9:104811789-104811790	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576001671	chr9:104811806-104811807	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs188502564	chr9:104811822-104811823	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543920546	chr9:104811870-104811871	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs191865962	chr9:104811872-104811873	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562958407	chr9:104811886-104811887	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564061246	chr9:104811890-104811891	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530524662	chr9:104811955-104811956	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs143026799	chr9:104812005-104812006	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372856516	chr9:104812043-104812044	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375474769	chr9:104812049-104812050	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559935187	chr9:104812051-104812052	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575221844	chr9:104812095-104812096	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10739825	chr9:104812127-104812128	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200760461	chr9:104812148-104812149	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34756876	chr9:104812150-104812151	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562482563	chr9:104812151-104812152	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398113711	chr9:104812160-104812161	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531630414	chr9:104812168-104812169	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148204711	chr9:104812199-104812200	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189309140	chr9:104812247-104812248	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538455588	chr9:104812288-104812289	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539571163	chr9:104812290-104812291	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373318973	chr9:104812341-104812342	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182239061	chr9:104812342-104812343	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553509150	chr9:104812363-104812364	Active TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536098759	chr9:104812401-104812402	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555995928	chr9:104812410-104812411	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141195504	chr9:104812412-104812413	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553403489	chr9:104812454-104812455	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185631077	chr9:104812473-104812474	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577535250	chr9:104812488-104812489	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79678694	chr9:104812509-104812510	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559849519	chr9:104812528-104812529	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143428213	chr9:104812593-104812594	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371633522	chr9:104812595-104812596	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77010001	chr9:104812619-104812620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542459113	chr9:104812646-104812647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139584088	chr9:104812647-104812648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7847976	chr9:104812738-104812739	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs143595619	chr9:104812755-104812756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7874216	chr9:104812789-104812790	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533401617	chr9:104812807-104812808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369337482	chr9:104812812-104812813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547010085	chr9:104812813-104812814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147195652	chr9:104812817-104812818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529360936	chr9:104812818-104812819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7858235	chr9:104812823-104812824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104808800-104818000	Weak transcription	Pancreas	Pancrea
2	chr9:104811000-104812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:104811600-104812600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:104811600-104812600	Flanking Active TSS	Dnd41	blood
5	chr9:104811800-104812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:104811800-104812200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:104812000-104812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr9:104812000-104812200	Active TSS	Adipose Nuclei	Adipose
9	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:104812000-104812400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:104812000-104812400	Active TSS	Liver	Liver
13	chr9:104812000-104812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:104812000-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:104812200-104812400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr9:104812200-104812400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:104812200-104812600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr9:104812400-104812800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:104812600-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:104812600-104813400	Enhancers	Dnd41	blood
21	chr9:104813400-104815400	Weak transcription	Dnd41	blood
22	chr9:104813400-104815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:104814800-104816200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr9:104815400-104817600	Enhancers	Dnd41	blood
25	chr9:104815600-104816600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:104815800-104816600	Enhancers	Fetal Kidney	kidney
27	chr9:104818000-104818200	ZNF genes & repeats	Pancreas	Pancrea
28	chr9:104818200-104819200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:104818800-104819400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:104825000-104825400	Enhancers	Dnd41	blood
31	chr9:104829200-104829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr9:104829800-104832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr9:104831200-104831400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr9:104831400-104832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:104831800-104833400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:104832200-104832600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr9:104832400-104832600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr9:104832400-104832600	Enhancers	Ovary	ovary
39	chr9:104832600-104834000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:104832600-104834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:104832600-104834200	Weak transcription	Ovary	ovary
42	chr9:104833400-104834400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:104834000-104834400	Enhancers	Liver	Liver
44	chr9:104834000-104834600	Enhancers	Fetal Kidney	kidney
45	chr9:104834000-104835000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr9:104834200-104835000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr9:104834200-104835000	Enhancers	Ovary	ovary
48	chr9:104834400-104834600	Flanking Active TSS	Liver	Liver
49	chr9:104834400-104834800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:104834600-104834800	Active TSS	Liver	Liver

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