Variant report

Variant	nsv1054263
Chromosome Location	chr9:105570212-105754741
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	chr9:105603789-105603818	HepG2	liver:	n/a	n/a
2	CBX3	chr9:105732789-105732939	K562	blood:	n/a	n/a
3	CCNT2	chr9:105654934-105655131	K562	blood:	n/a	n/a
4	CEBPB	chr9:105602596-105602992	A549	lung:	n/a	chr9:105602757-105602768
5	CEBPB	chr9:105716400-105716709	HepG2	liver:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
6	CEBPB	chr9:105663619-105663820	HepG2	liver:	n/a	n/a
7	CEBPB	chr9:105715318-105715459	A549	lung:	n/a	n/a
8	CEBPB	chr9:105583088-105583260	HepG2	liver:	n/a	chr9:105583140-105583151 chr9:105583140-105583153 chr9:105583141-105583152 chr9:105583142-105583151
9	CEBPB	chr9:105707036-105707335	IMR90	lung:	n/a	chr9:105707185-105707196
10	CEBPB	chr9:105716482-105716594	H1-hESC	embryonic stem cell:	n/a	chr9:105716559-105716570 chr9:105716561-105716572 chr9:105716561-105716572
11	CEBPB	chr9:105595279-105595559	A549	lung:	n/a	n/a
12	CEBPB	chr9:105655038-105655340	HepG2	liver:	n/a	chr9:105655174-105655185 chr9:105655173-105655190 chr9:105655174-105655185 chr9:105655174-105655187 chr9:105655174-105655187 chr9:105655175-105655186 chr9:105655174-105655187
13	CEBPB	chr9:105663505-105663808	IMR90	lung:	n/a	n/a
14	CEBPB	chr9:105635761-105636098	IMR90	lung:	n/a	chr9:105635923-105635934 chr9:105635924-105635933 chr9:105635924-105635933 chr9:105635922-105635935 chr9:105635924-105635933 chr9:105635924-105635933
15	CEBPB	chr9:105707049-105707340	A549	lung:	n/a	chr9:105707185-105707196
16	CEBPB	chr9:105635789-105636105	HepG2	liver:	n/a	chr9:105635923-105635934 chr9:105635924-105635933 chr9:105635924-105635933 chr9:105635922-105635935 chr9:105635924-105635933 chr9:105635924-105635933
17	CEBPB	chr9:105671366-105671545	A549	lung:	n/a	n/a
18	CEBPB	chr9:105583088-105583222	K562	blood:	n/a	chr9:105583140-105583151 chr9:105583140-105583153 chr9:105583141-105583152 chr9:105583142-105583151
19	CEBPB	chr9:105707047-105707334	HepG2	liver:	n/a	chr9:105707185-105707196
20	CTCF	chr9:105717599-105717636	Lung_OC	lung:	n/a	n/a
21	CTCF	chr9:105595271-105595317	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:105577600-105577750	GM12866	blood:	n/a	n/a
23	CTCF	chr9:105604380-105604530	Caco-2	colon:	n/a	n/a
24	CTCF	chr9:105595214-105595373	LNCaP	prostate:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
25	CTCF	chr9:105595223-105595363	LNCaP	prostate:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
26	CTCF	chr9:105729953-105729968	GM20000	blood:	n/a	n/a
27	CTCF	chr9:105576190-105576257	Lung_OC	lung:	n/a	n/a
28	CTCF	chr9:105595169-105595488	MCF-7	breast:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
29	CTCF	chr9:105595140-105595477	MCF-7	breast:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
30	CTCF	chr9:105595243-105595324	GM12878	blood:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
31	CTCF	chr9:105651240-105651390	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr9:105595144-105595372	H1-hESC	embryonic stem cell:	n/a	chr9:105595259-105595277 chr9:105595254-105595275
33	CTCF	chr9:105747084-105747155	GM13976	blood:	n/a	n/a
34	CTCF	chr9:105651120-105651270	GM12865	blood:	n/a	n/a
35	CTCF	chr9:105601125-105601155	GM13976	blood:	n/a	n/a
36	CTCF	chr9:105652376-105652440	GM10266	blood:	n/a	n/a
37	E2F4	chr9:105672427-105672627	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr9:105748472-105748633	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr9:105749194-105749374	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr9:105744253-105744566	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr9:105752889-105753300	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr9:105580201-105580334	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr9:105597019-105597141	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr9:105725027-105725227	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr9:105586676-105586876	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr9:105643802-105644002	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr9:105690348-105690403	MCF10A-Er-Src	breast:	n/a	n/a
48	EBF1	chr9:105673651-105673969	GM12878	blood:	n/a	n/a
49	EP300	chr9:105602530-105603136	A549	lung:	n/a	chr9:105602755-105602769 chr9:105602878-105602887 chr9:105602879-105602888
50	EP300	chr9:105602555-105603028	A549	lung:	n/a	chr9:105602755-105602769 chr9:105602878-105602887 chr9:105602879-105602888

No.	Distal block	Cell Line	Cell type
1	chr9:105671845..105674344-chr9:105674742..105677700,2	MCF-7	breast:
2	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:
3	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:
4	chr9:105671845..105674344-chr9:105674742..105677700,2	MCF-7	breast:
5	chr9:105601501..105604320-chr9:105604736..105606990,2	K562	blood:
6	chr9:105606535..105608555-chr9:105610541..105613009,2	K562	blood:
7	chr9:105606535..105608555-chr9:105610541..105613009,2	K562	blood:
8	chr9:105583866..105585585-chr9:105595429..105598313,2	K562	blood:
9	chr9:105754455..105757293-chr9:105759259..105760916,2	K562	blood:
10	chr12:83140733..83141444-chr9:105581833..105582602,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYLC2-3	chr9:105684856-105685526	NONHSAT133769

Variant related genes	Relation type
ENSG00000234269	TF binding region
CYLC2	TF binding region

Extended variants
information (count: 2506 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2506 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34946809	chr9:105591409-105591410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186754839	chr9:105591418-105591419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367737541	chr9:105591419-105591420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534143807	chr9:105591433-105591434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553767058	chr9:105591485-105591486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148156511	chr9:105591487-105591488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1907787	chr9:105591501-105591502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs562636732	chr9:105591517-105591518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575815841	chr9:105591521-105591522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2797631	chr9:105591561-105591562	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs143080516	chr9:105591636-105591637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111573331	chr9:105591646-105591647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201860008	chr9:105591669-105591670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201842309	chr9:105591677-105591678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112205882	chr9:105591726-105591727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369408105	chr9:105591734-105591735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568932211	chr9:105591756-105591757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539583508	chr9:105591765-105591766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375882087	chr9:105591769-105591770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74307230	chr9:105591783-105591784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2812594	chr9:105591790-105591791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549328825	chr9:105591797-105591798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569069689	chr9:105591798-105591799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537552337	chr9:105591827-105591828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551059655	chr9:105591839-105591840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527903284	chr9:105591850-105591851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570945161	chr9:105591868-105591869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533531718	chr9:105591870-105591871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374144078	chr9:105591956-105591957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs860935	chr9:105591958-105591959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573868127	chr9:105591959-105591960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73659609	chr9:105591995-105591996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183650365	chr9:105592012-105592013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78281226	chr9:105592015-105592016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139827755	chr9:105592022-105592023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564559689	chr9:105592034-105592035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572582811	chr9:105592051-105592052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189094279	chr9:105592066-105592067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540292379	chr9:105592076-105592077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143254480	chr9:105592079-105592080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529570353	chr9:105592081-105592082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150756291	chr9:105592184-105592185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192837154	chr9:105592197-105592198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531780131	chr9:105592218-105592219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200739664	chr9:105592225-105592226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111820124	chr9:105592227-105592228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371751911	chr9:105592228-105592229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56313625	chr9:105592230-105592231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551088524	chr9:105592241-105592242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs843259	chr9:105592283-105592284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:105591400-105591600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr9:105591600-105603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:105602400-105603800	Enhancers	Fetal Intestine Large	intestine
4	chr9:105602400-105606800	Enhancers	Fetal Intestine Small	intestine
5	chr9:105602600-105605200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:105602600-105605400	Enhancers	Liver	Liver
7	chr9:105603000-105603200	Enhancers	Duodenum Mucosa	Duodenum
8	chr9:105603200-105603600	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr9:105603200-105604200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr9:105603400-105603600	Enhancers	A549	lung
11	chr9:105603400-105603800	Enhancers	Fetal Kidney	kidney
12	chr9:105603400-105605200	Enhancers	HepG2	liver
13	chr9:105603600-105604400	Weak transcription	A549	lung
14	chr9:105603600-105604800	Active TSS	Duodenum Mucosa	Duodenum
15	chr9:105603800-105604200	Weak transcription	Fetal Intestine Large	intestine
16	chr9:105604200-105607800	Enhancers	Fetal Intestine Large	intestine
17	chr9:105604400-105605200	Enhancers	A549	lung
18	chr9:105604800-105605000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr9:105605000-105607800	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:105605200-105607400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:105605600-105605800	Enhancers	Fetal Kidney	kidney
22	chr9:105606400-105607000	Enhancers	Small Intestine	intestine
23	chr9:105607000-105607400	Weak transcription	Small Intestine	intestine
24	chr9:105607400-105607800	Enhancers	Small Intestine	intestine
25	chr9:105607400-105608600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr9:105607800-105608800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr9:105608600-105608800	Enhancers	Fetal Intestine Small	intestine
28	chr9:105608800-105609000	Enhancers	Duodenum Mucosa	Duodenum
29	chr9:105616800-105617200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr9:105616800-105619000	Enhancers	Fetal Heart	heart
31	chr9:105617000-105617200	Enhancers	Left Ventricle	heart
32	chr9:105617200-105618000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:105618000-105618800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:105619000-105625400	Weak transcription	Fetal Heart	heart
35	chr9:105625400-105626600	Enhancers	Fetal Heart	heart
36	chr9:105625800-105626200	Enhancers	Fetal Intestine Small	intestine
37	chr9:105625800-105626200	Enhancers	Left Ventricle	heart
38	chr9:105626200-105629600	Weak transcription	Fetal Intestine Small	intestine
39	chr9:105626600-105628400	Weak transcription	Fetal Heart	heart
40	chr9:105628400-105630400	Enhancers	Fetal Heart	heart
41	chr9:105628600-105628800	Enhancers	Pancreas	Pancrea
42	chr9:105628600-105630200	Enhancers	NH-A	brain
43	chr9:105629200-105629400	Enhancers	Placenta Amnion	Placenta Amnion
44	chr9:105629200-105630600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:105629400-105630000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:105629600-105630000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:105629600-105630000	Enhancers	Fetal Intestine Small	intestine
48	chr9:105629800-105630200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:105630000-105630200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr9:105630200-105635200	Weak transcription	Placenta Amnion	Placenta Amnion

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