Variant report

Variant	esv2422433
Chromosome Location	chr9:104736829-104878805
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	chr9:104832299-104832678	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr9:104865551-104865682	HepG2	liver:	n/a	n/a
5	CEBPB	chr9:104871223-104871287	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:104847879-104848212	K562	blood:	n/a	chr9:104848017-104848028
7	CEBPB	chr9:104847855-104848192	HepG2	liver:	n/a	chr9:104848017-104848028
8	CEBPB	chr9:104795979-104796078	HepG2	liver:	n/a	chr9:104796033-104796044 chr9:104796032-104796045
9	CEBPB	chr9:104804246-104804649	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr9:104757408-104758008	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr9:104847891-104848112	H1-hESC	embryonic stem cell:	n/a	chr9:104848017-104848028
12	CEBPB	chr9:104861803-104861860	HepG2	liver:	n/a	chr9:104861817-104861828 chr9:104861819-104861830 chr9:104861817-104861830
13	CEBPB	chr9:104770107-104770211	A549	lung:	n/a	n/a
14	CEBPB	chr9:104820520-104820527	A549	lung:	n/a	n/a
15	CEBPB	chr9:104832401-104832569	HepG2	liver:	n/a	n/a
16	CEBPB	chr9:104847870-104848205	IMR90	lung:	n/a	chr9:104848017-104848028
17	CEBPB	chr9:104847837-104848131	A549	lung:	n/a	chr9:104848017-104848028
18	CEBPB	chr9:104875120-104875776	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr9:104832315-104832604	ECC-1	luminal epithelium:	n/a	n/a
20	CEBPB	chr9:104832504-104832566	A549	lung:	n/a	n/a
21	CTCF	chr9:104740280-104740430	BJ	skin:	n/a	n/a
22	CTCF	chr9:104739780-104739930	HAc	cerebellar:	n/a	n/a
23	CTCF	chr9:104740040-104740190	GM12864	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
24	CTCF	chr9:104739960-104740110	K562	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
25	CTCF	chr9:104739972-104740232	K562	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
26	CTCF	chr9:104739960-104740164	GM10266	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
27	CTCF	chr9:104740020-104740170	HRE	kidney:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
28	CTCF	chr9:104739980-104740130	HPAF	blood vessel:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
29	CTCF	chr9:104740020-104740170	AG04449	skin:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
30	CTCF	chr9:104740020-104740170	GM12864	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
31	CTCF	chr9:104740060-104740210	AG09309	skin:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
32	CTCF	chr9:104740720-104740870	GM12872	blood:	n/a	n/a
33	CTCF	chr9:104739976-104740174	GM10248	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
34	CTCF	chr9:104739960-104740110	GM12878	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
35	CTCF	chr9:104739984-104740206	GM12878	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
36	CTCF	chr9:104740020-104740170	GM06990	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
37	CTCF	chr9:104740200-104740350	GM12865	blood:	n/a	n/a
38	CTCF	chr9:104740002-104740165	LNCaP	prostate:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
39	CTCF	chr9:104740320-104740470	GM12864	blood:	n/a	n/a
40	CTCF	chr9:104740020-104740170	GM12872	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
41	CTCF	chr9:104739940-104740090	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr9:104740000-104740150	GM12867	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
43	CTCF	chr9:104739893-104740281	K562	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
44	CTCF	chr9:104739980-104740130	AG10803	skin:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
45	CTCF	chr9:104740020-104740170	HCM	heart:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
46	CTCF	chr9:104740000-104740150	HBMEC	blood vessel:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
47	CTCF	chr9:104740180-104740330	HAc	cerebellar:	n/a	n/a
48	CTCF	chr9:104740020-104740170	GM12868	blood:	n/a	chr9:104740080-104740101 chr9:104740079-104740095
49	CTCF	chr9:104740320-104740470	GM12868	blood:	n/a	n/a
50	CTCF	chr9:104740320-104740470	BJ	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
2	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
3	chr9:104846252..104847873-chr9:104851668..104854284,2	K562	blood:
4	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:
5	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
6	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
7	chr9:104733654..104735932-chr9:104741852..104744249,2	K562	blood:
8	chr9:104828978..104830886-chr9:104836828..104839477,2	K562	blood:
9	chr9:104752145..104755127-chr9:104756633..104759561,2	MCF-7	breast:
10	chr9:104790240..104792584-chr9:104811133..104813780,2	K562	blood:
11	chr8:142134647..142136266-chr9:104766043..104767800,2	MCF-7	breast:
12	chr9:104736126..104738310-chr9:104738745..104740994,2	K562	blood:

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

Variant related genes	Relation type
ARL2BPP7	TF binding region

Extended variants
information (count: 1864 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1864 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531661061	chr9:104738209-104738210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578223746	chr9:104738244-104738245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557126555	chr9:104738268-104738269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75361642	chr9:104738274-104738275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140845868	chr9:104738275-104738276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371599413	chr9:104738284-104738285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545164668	chr9:104738331-104738332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533405013	chr9:104738365-104738366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75588146	chr9:104738373-104738374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575289565	chr9:104738408-104738409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548551151	chr9:104738416-104738417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529370543	chr9:104738420-104738421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186488147	chr9:104738438-104738439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536272520	chr9:104738459-104738460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555207557	chr9:104738472-104738473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370732671	chr9:104738484-104738485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569083549	chr9:104738497-104738498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538154681	chr9:104738502-104738503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143256442	chr9:104738538-104738539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571599105	chr9:104738556-104738557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71509747	chr9:104738581-104738582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573465579	chr9:104738592-104738593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533590110	chr9:104738647-104738648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146702499	chr9:104738665-104738666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374058575	chr9:104738700-104738701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540772015	chr9:104738715-104738716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573689533	chr9:104738746-104738747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542678698	chr9:104738775-104738776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370919884	chr9:104738776-104738777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576263847	chr9:104738785-104738786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140299546	chr9:104738797-104738798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565223244	chr9:104738946-104738947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117771616	chr9:104739011-104739012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10116510	chr9:104739040-104739041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78645731	chr9:104739045-104739046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75737049	chr9:104739073-104739074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs67798918	chr9:104739646-104739647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398113710	chr9:104739647-104739648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533739585	chr9:104739665-104739666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138880258	chr9:104739668-104739669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117888602	chr9:104739669-104739670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139782158	chr9:104739670-104739671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113680100	chr9:104739671-104739672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371016642	chr9:104739672-104739673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62581021	chr9:104739673-104739674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72087308	chr9:104739695-104739696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7846868	chr9:104739700-104739701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3983706	chr9:104739705-104739706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544286900	chr9:104739721-104739722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576199176	chr9:104739727-104739728	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104738200-104739200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:104739600-104739800	Enhancers	Fetal Heart	heart
3	chr9:104739800-104740400	Weak transcription	Fetal Heart	heart
4	chr9:104740200-104740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:104740400-104740600	Enhancers	Fetal Heart	heart
6	chr9:104740600-104742800	Weak transcription	Fetal Heart	heart
7	chr9:104742800-104744200	Enhancers	Fetal Heart	heart
8	chr9:104743000-104743800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:104756000-104758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:104756400-104758200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:104756400-104758200	Enhancers	NH-A	brain
12	chr9:104757200-104757600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:104757400-104758000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:104758800-104759000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:104758800-104759000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
16	chr9:104759200-104759400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:104759400-104760000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:104760000-104761400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:104761400-104764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:104761600-104762600	Enhancers	Fetal Heart	heart
21	chr9:104762600-104765800	Weak transcription	Fetal Heart	heart
22	chr9:104764400-104764600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:104765800-104766000	Active TSS	Fetal Heart	heart
24	chr9:104770400-104770600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr9:104779800-104780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:104797000-104797400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr9:104798200-104798400	Enhancers	Liver	Liver
28	chr9:104808600-104808800	Enhancers	Gastric	stomach
29	chr9:104808600-104808800	ZNF genes & repeats	Pancreas	Pancrea
30	chr9:104808600-104808800	Enhancers	Psoas Muscle	Psoas
31	chr9:104808800-104818000	Weak transcription	Pancreas	Pancrea
32	chr9:104810000-104811600	Enhancers	Dnd41	blood
33	chr9:104811000-104812000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:104811600-104812600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:104811600-104812600	Flanking Active TSS	Dnd41	blood
36	chr9:104811800-104812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:104811800-104812200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:104812000-104812200	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr9:104812000-104812200	Active TSS	Adipose Nuclei	Adipose
40	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:104812000-104812400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:104812000-104812400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:104812000-104812400	Active TSS	Liver	Liver
44	chr9:104812000-104812600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:104812000-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:104812200-104812400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr9:104812200-104812400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:104812200-104812600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr9:104812400-104812800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr9:104812600-104813400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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