Variant report

Variant	nsv893635
Chromosome Location	chr9:104789573-104990394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:104949932-104950119	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:104868818-104868993	K562	blood:	n/a	n/a
3	BHLHE40	chr9:104808797-104808879	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:104904860-104905106	A549	lung:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
5	CEBPB	chr9:104904855-104905126	K562	blood:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
6	CEBPB	chr9:104904848-104905135	H1-hESC	embryonic stem cell:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
7	CEBPB	chr9:104847837-104848131	A549	lung:	n/a	chr9:104848017-104848028
8	CEBPB	chr9:104847891-104848112	H1-hESC	embryonic stem cell:	n/a	chr9:104848017-104848028
9	CEBPB	chr9:104904806-104905159	HepG2	liver:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
10	CEBPB	chr9:104904788-104905091	IMR90	lung:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
11	CEBPB	chr9:104865551-104865682	HepG2	liver:	n/a	n/a
12	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
13	CEBPB	chr9:104986298-104986457	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr9:104931342-104931414	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr9:104847870-104848205	IMR90	lung:	n/a	chr9:104848017-104848028
17	CEBPB	chr9:104847855-104848192	HepG2	liver:	n/a	chr9:104848017-104848028
18	CEBPB	chr9:104804246-104804649	ECC-1	luminal epithelium:	n/a	n/a
19	CEBPB	chr9:104795979-104796078	HepG2	liver:	n/a	chr9:104796033-104796044 chr9:104796032-104796045
20	CEBPB	chr9:104861803-104861860	HepG2	liver:	n/a	chr9:104861817-104861828 chr9:104861819-104861830 chr9:104861817-104861830
21	CEBPB	chr9:104847879-104848212	K562	blood:	n/a	chr9:104848017-104848028
22	CEBPB	chr9:104871223-104871287	HepG2	liver:	n/a	n/a
23	CEBPB	chr9:104875120-104875776	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
25	CEBPB	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
27	CHD2	chr9:104886929-104886951	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr9:104973540-104973690	GM12871	blood:	n/a	n/a
29	CTCF	chr9:104876605-104876640	MCF-7	breast:	n/a	n/a
30	CTCF	chr9:104857756-104857853	Gliobla	brain:	n/a	n/a
31	CTCF	chr9:104982658-104982752	GM13976	blood:	n/a	n/a
32	CTCF	chr9:104933044-104933076	GM20000	blood:	n/a	n/a
33	CTCF	chr9:104962715-104962785	K562	blood:	n/a	n/a
34	CTCF	chr9:104857779-104857842	LNCaP	prostate:	n/a	n/a
35	CTCF	chr9:104942181-104942208	LNCaP	prostate:	n/a	n/a
36	CTCF	chr9:104948440-104948590	MCF-7	breast:	n/a	n/a
37	CTCF	chr9:104948460-104948610	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr9:104857747-104857825	K562	blood:	n/a	n/a
39	CTCF	chr9:104808787-104808821	ProgFib	skin:	n/a	n/a
40	CTCF	chr9:104915457-104915589	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr9:104915361-104915580	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr9:104898695-104898731	GM10248	blood:	n/a	n/a
43	CTCF	chr9:104893512-104893573	GM13976	blood:	n/a	n/a
44	E2F4	chr9:104805696-104805816	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr9:104832347-104832446	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr9:104900220-104900434	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr9:104840762-104840962	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr9:104957984-104958085	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr9:104953369-104953678	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr9:104833736-104833939	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

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	chr11:118868629..118869144-chr9:104880609..104881109,2	MCF-7	breast:
4	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
5	chr9:104973156..104974681-chr9:104986450..104988784,2	MCF-7	breast:
6	chr9:104973156..104974681-chr9:104986450..104988784,2	MCF-7	breast:
7	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
8	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
9	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIN3A-3	chr9:104946414-104946469	ucscGeneNc_uc004bbt_2
2	lnc-GRIN3A-3	chr9:104942631-104945366	ucscGeneNc_uc004bbt_2
3	lnc-C9orf107-7	chr9:104810504-104810756	NONHSAT133754
4	lnc-GRIN3A-3	chr9:104990149-104990219	NONHSAT133756
5	lnc-GRIN3A-3	chr9:104946414-104946469	NONHSAT133756
6	lnc-GRIN3A-3	chr9:104942626-104945366	NONHSAT133756
7	lnc-GRIN3A-2	chr9:104817534-104818023	NONHSAT133755
8	lnc-C9orf107-7	chr9:104811295-104811420	NONHSAT133754
9	lnc-GRIN3A-3	chr9:104990149-104990219	ucscGeneNc_uc004bbt_2

No data

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

Extended variants
information (count: 2071 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2071 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527425542	chr9:104797009-104797010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546929009	chr9:104797064-104797065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571915228	chr9:104797081-104797082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554349429	chr9:104797125-104797126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539002146	chr9:104797157-104797158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577714032	chr9:104797165-104797166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143001187	chr9:104797192-104797193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529823925	chr9:104797279-104797280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375118711	chr9:104797303-104797304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10760831	chr9:104797330-104797331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569888371	chr9:104797352-104797353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532416596	chr9:104797357-104797358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117057383	chr9:104798201-104798202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531183256	chr9:104798255-104798256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528372286	chr9:104798279-104798280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542714867	chr9:104798293-104798294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547858165	chr9:104798364-104798365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558645700	chr9:104808606-104808607	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572516459	chr9:104808626-104808627	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2122291	chr9:104808725-104808726	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs180880301	chr9:104808800-104808801	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142315640	chr9:104808806-104808807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565495055	chr9:104808837-104808838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10820041	chr9:104808856-104808857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs386736904	chr9:104808870-104808871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5006049	chr9:104808872-104808873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562884273	chr9:104808898-104808899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113829575	chr9:104808909-104808910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7044924	chr9:104808912-104808913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114726711	chr9:104808926-104808927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527782895	chr9:104808969-104808970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373619601	chr9:104808999-104809000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567479904	chr9:104809021-104809022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530343322	chr9:104809042-104809043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1449654	chr9:104809059-104809060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144767303	chr9:104809071-104809072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186110740	chr9:104809087-104809088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150511788	chr9:104809092-104809093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558257313	chr9:104809155-104809156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565814742	chr9:104809163-104809164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534373246	chr9:104809183-104809184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554810884	chr9:104809191-104809192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73498507	chr9:104809253-104809254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139490320	chr9:104809259-104809260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557328803	chr9:104809266-104809267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541819396	chr9:104809277-104809278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149705539	chr9:104809339-104809340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545433412	chr9:104809347-104809348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565089687	chr9:104809348-104809349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6479086	chr9:104809351-104809352	Weak transcription	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104797000-104797400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:104798200-104798400	Enhancers	Liver	Liver
3	chr9:104808600-104808800	Enhancers	Gastric	stomach
4	chr9:104808600-104808800	ZNF genes & repeats	Pancreas	Pancrea
5	chr9:104808600-104808800	Enhancers	Psoas Muscle	Psoas
6	chr9:104808800-104818000	Weak transcription	Pancreas	Pancrea
7	chr9:104810000-104811600	Enhancers	Dnd41	blood
8	chr9:104811000-104812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:104811600-104812600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:104811600-104812600	Flanking Active TSS	Dnd41	blood
11	chr9:104811800-104812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:104811800-104812200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:104812000-104812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr9:104812000-104812200	Active TSS	Adipose Nuclei	Adipose
15	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:104812000-104812400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:104812000-104812400	Active TSS	Liver	Liver
19	chr9:104812000-104812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:104812000-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:104812200-104812400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr9:104812200-104812400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:104812200-104812600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr9:104812400-104812800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:104812600-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:104812600-104813400	Enhancers	Dnd41	blood
27	chr9:104813400-104815400	Weak transcription	Dnd41	blood
28	chr9:104813400-104815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:104814800-104816200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:104815400-104817600	Enhancers	Dnd41	blood
31	chr9:104815600-104816600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:104815800-104816600	Enhancers	Fetal Kidney	kidney
33	chr9:104818000-104818200	ZNF genes & repeats	Pancreas	Pancrea
34	chr9:104818200-104819200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:104818800-104819400	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr9:104825000-104825400	Enhancers	Dnd41	blood
37	chr9:104829200-104829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:104829800-104832200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr9:104831200-104831400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr9:104831400-104832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:104831800-104833400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:104832200-104832600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:104832400-104832600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr9:104832400-104832600	Enhancers	Ovary	ovary
45	chr9:104832600-104834000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:104832600-104834200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:104832600-104834200	Weak transcription	Ovary	ovary
48	chr9:104833400-104834400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:104834000-104834400	Enhancers	Liver	Liver
50	chr9:104834000-104834600	Enhancers	Fetal Kidney	kidney

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