Variant report

Variant	nsv893634
Chromosome Location	chr9:104754832-104942186
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	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr9:104804246-104804649	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr9:104861803-104861860	HepG2	liver:	n/a	chr9:104861817-104861828 chr9:104861819-104861830 chr9:104861817-104861830
6	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
7	CEBPB	chr9:104847879-104848212	K562	blood:	n/a	chr9:104848017-104848028
8	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
9	CEBPB	chr9:104795979-104796078	HepG2	liver:	n/a	chr9:104796033-104796044 chr9:104796032-104796045
10	CEBPB	chr9:104904848-104905135	H1-hESC	embryonic stem cell:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
11	CEBPB	chr9:104904860-104905106	A549	lung:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
12	CEBPB	chr9:104904855-104905126	K562	blood:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
13	CEBPB	chr9:104904806-104905159	HepG2	liver:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
14	CEBPB	chr9:104847891-104848112	H1-hESC	embryonic stem cell:	n/a	chr9:104848017-104848028
15	CEBPB	chr9:104871223-104871287	HepG2	liver:	n/a	n/a
16	CEBPB	chr9:104847855-104848192	HepG2	liver:	n/a	chr9:104848017-104848028
17	CEBPB	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
19	CEBPB	chr9:104931342-104931414	HepG2	liver:	n/a	n/a
20	CEBPB	chr9:104847837-104848131	A549	lung:	n/a	chr9:104848017-104848028
21	CEBPB	chr9:104904788-104905091	IMR90	lung:	n/a	chr9:104904962-104904973 chr9:104904962-104904975
22	CEBPB	chr9:104875120-104875776	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr9:104865551-104865682	HepG2	liver:	n/a	n/a
24	CEBPB	chr9:104770107-104770211	A549	lung:	n/a	n/a
25	CEBPB	chr9:104757408-104758008	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chr9:104847870-104848205	IMR90	lung:	n/a	chr9:104848017-104848028
27	CHD2	chr9:104886929-104886951	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr9:104933044-104933076	GM20000	blood:	n/a	n/a
29	CTCF	chr9:104898695-104898731	GM10248	blood:	n/a	n/a
30	CTCF	chr9:104876605-104876640	MCF-7	breast:	n/a	n/a
31	CTCF	chr9:104857756-104857853	Gliobla	brain:	n/a	n/a
32	CTCF	chr9:104915457-104915589	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr9:104769255-104769276	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:104808787-104808821	ProgFib	skin:	n/a	n/a
35	CTCF	chr9:104857779-104857842	LNCaP	prostate:	n/a	n/a
36	CTCF	chr9:104942181-104942208	LNCaP	prostate:	n/a	n/a
37	CTCF	chr9:104915361-104915580	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr9:104893512-104893573	GM13976	blood:	n/a	n/a
39	CTCF	chr9:104754920-104755070	GM12872	blood:	n/a	n/a
40	CTCF	chr9:104756340-104756490	GM12874	blood:	n/a	n/a
41	CTCF	chr9:104857747-104857825	K562	blood:	n/a	n/a
42	E2F4	chr9:104805696-104805816	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr9:104900220-104900434	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr9:104814441-104814586	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr9:104832347-104832446	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr9:104833736-104833939	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr9:104840762-104840962	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr9:104809970-104810071	GM12878	blood:	n/a	chr9:104810008-104810019
49	EBF1	chr9:104818931-104818962	GM12878	blood:	n/a	n/a
50	EP300	chr9:104757170-104758244	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
2	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
3	chr8:142134647..142136266-chr9:104766043..104767800,2	MCF-7	breast:
4	chr11:118868629..118869144-chr9:104880609..104881109,2	MCF-7	breast:
5	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
6	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
7	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
8	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
9	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
10	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:

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

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

Extended variants
information (count: 1988 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1988 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62581023	chr9:104756010-104756011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555466492	chr9:104756014-104756015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563729291	chr9:104756090-104756091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531026083	chr9:104756185-104756186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538060736	chr9:104756201-104756202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557639607	chr9:104756214-104756215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150281332	chr9:104756215-104756216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549253366	chr9:104756231-104756232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554099449	chr9:104756258-104756259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573322737	chr9:104756271-104756272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188061913	chr9:104756306-104756307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547113883	chr9:104756315-104756316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35218364	chr9:104756338-104756339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562246649	chr9:104756339-104756340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376092211	chr9:104756342-104756343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530878234	chr9:104756352-104756353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117452044	chr9:104756413-104756414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564297300	chr9:104756466-104756467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138642483	chr9:104756468-104756469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528916221	chr9:104756507-104756508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548666493	chr9:104756510-104756511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10989748	chr9:104756522-104756523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142712623	chr9:104756537-104756538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146936017	chr9:104756543-104756544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571508606	chr9:104756545-104756546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533975329	chr9:104756557-104756558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535806463	chr9:104756574-104756575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554138164	chr9:104756591-104756592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7873386	chr9:104756598-104756599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs535848075	chr9:104756630-104756631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555425298	chr9:104756654-104756655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575711473	chr9:104756680-104756681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs137974516	chr9:104756697-104756698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114525384	chr9:104756744-104756745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114940534	chr9:104756750-104756751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193062767	chr9:104756762-104756763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2900320	chr9:104756818-104756819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557526847	chr9:104756855-104756856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74306901	chr9:104756863-104756864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375423088	chr9:104756886-104756887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183411485	chr9:104756894-104756895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558460250	chr9:104756917-104756918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35740880	chr9:104756925-104756926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141428011	chr9:104756926-104756927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28655402	chr9:104756927-104756928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531319542	chr9:104756934-104756935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71498776	chr9:104756940-104756941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555197032	chr9:104756986-104756987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571360751	chr9:104756992-104756993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149487153	chr9:104757056-104757057	Enhancers	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104756000-104758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:104756400-104758200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:104756400-104758200	Enhancers	NH-A	brain
4	chr9:104757200-104757600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:104757400-104758000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:104758800-104759000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:104758800-104759000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
8	chr9:104759200-104759400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:104759400-104760000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr9:104760000-104761400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:104761400-104764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:104761600-104762600	Enhancers	Fetal Heart	heart
13	chr9:104762600-104765800	Weak transcription	Fetal Heart	heart
14	chr9:104764400-104764600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:104765800-104766000	Active TSS	Fetal Heart	heart
16	chr9:104770400-104770600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:104779800-104780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr9:104797000-104797400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr9:104798200-104798400	Enhancers	Liver	Liver
20	chr9:104808600-104808800	Enhancers	Gastric	stomach
21	chr9:104808600-104808800	ZNF genes & repeats	Pancreas	Pancrea
22	chr9:104808600-104808800	Enhancers	Psoas Muscle	Psoas
23	chr9:104808800-104818000	Weak transcription	Pancreas	Pancrea
24	chr9:104810000-104811600	Enhancers	Dnd41	blood
25	chr9:104811000-104812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:104811600-104812600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:104811600-104812600	Flanking Active TSS	Dnd41	blood
28	chr9:104811800-104812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:104811800-104812200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:104812000-104812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr9:104812000-104812200	Active TSS	Adipose Nuclei	Adipose
32	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:104812000-104812400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:104812000-104812400	Active TSS	Liver	Liver
36	chr9:104812000-104812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:104812000-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:104812200-104812400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr9:104812200-104812400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:104812200-104812600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr9:104812400-104812800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr9:104812600-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:104812600-104813400	Enhancers	Dnd41	blood
44	chr9:104813400-104815400	Weak transcription	Dnd41	blood
45	chr9:104813400-104815600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:104814800-104816200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:104815400-104817600	Enhancers	Dnd41	blood
48	chr9:104815600-104816600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:104815800-104816600	Enhancers	Fetal Kidney	kidney
50	chr9:104818000-104818200	ZNF genes & repeats	Pancreas	Pancrea

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