Variant report

Variant	nsv428627
Chromosome Location	chr14:43762521-43926737
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	chr14:43770928-43770931	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:43918493-43919051	MCF-7	breast:	n/a	n/a
3	CEBPB	chr14:43887598-43887849	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:43797586-43797850	HepG2	liver:	n/a	chr14:43797713-43797724
5	CEBPB	chr14:43838957-43839300	A549	lung:	n/a	chr14:43839107-43839118
6	CEBPB	chr14:43826136-43826553	MCF-7	breast:	n/a	chr14:43826327-43826344
7	CEBPB	chr14:43881137-43881441	Hela-S3	cervix:	n/a	chr14:43881263-43881274 chr14:43881209-43881221
8	CEBPB	chr14:43799516-43799760	HepG2	liver:	n/a	chr14:43799594-43799605 chr14:43799661-43799678 chr14:43799594-43799607
9	CEBPB	chr14:43777599-43778357	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr14:43918448-43918913	MCF-7	breast:	n/a	n/a
11	CEBPB	chr14:43838939-43839283	IMR90	lung:	n/a	chr14:43839107-43839118
12	CEBPB	chr14:43839045-43839271	K562	blood:	n/a	chr14:43839107-43839118
13	CEBPB	chr14:43838931-43839289	HepG2	liver:	n/a	chr14:43839107-43839118
14	CEBPB	chr14:43775448-43775758	HepG2	liver:	n/a	chr14:43775607-43775618 chr14:43775606-43775619
15	CEBPB	chr14:43826038-43826600	MCF-7	breast:	n/a	chr14:43826327-43826344
16	CEBPB	chr14:43838901-43839260	MCF-7	breast:	n/a	chr14:43839107-43839118
17	CEBPB	chr14:43826288-43826431	HepG2	liver:	n/a	chr14:43826327-43826344
18	CEBPB	chr14:43881077-43881532	MCF-7	breast:	n/a	chr14:43881263-43881274 chr14:43881209-43881221
19	CEBPB	chr14:43881224-43881349	HepG2	liver:	n/a	chr14:43881263-43881274
20	CEBPB	chr14:43876987-43877305	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr14:43834714-43834907	HepG2	liver:	n/a	chr14:43834795-43834806
22	CEBPZ	chr14:43783378-43783823	HepG2	liver:	n/a	n/a
23	CEBPZ	chr14:43784271-43784461	HepG2	liver:	n/a	n/a
24	CHD2	chr14:43797055-43797062	HepG2	liver:	n/a	n/a
25	CTCF	chr14:43879971-43880143	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:43880029-43880081	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr14:43879963-43880137	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:43879980-43880130	HepG2	liver:	n/a	n/a
29	CTCF	chr14:43880000-43880150	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:43762645-43762723	GM13977	blood:	n/a	n/a
31	CTCF	chr14:43879970-43880136	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:43880040-43880190	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr14:43916769-43916840	GM10248	blood:	n/a	n/a
34	CTCF	chr14:43880015-43880111	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr14:43884474-43884520	GM13976	blood:	n/a	n/a
36	CTCF	chr14:43805303-43805356	ProgFib	skin:	n/a	n/a
37	CTCF	chr14:43879980-43880130	HEK293	kidney:	n/a	n/a
38	CTCF	chr14:43882340-43882490	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:43769741-43769762	GM13976	blood:	n/a	n/a
40	CTCF	chr14:43879846-43879929	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:43769528-43769566	MCF-7	breast:	n/a	n/a
42	CTCF	chr14:43922520-43922670	MCF-7	breast:	n/a	chr14:43922577-43922598
43	CTCF	chr14:43811960-43812011	GM20000	blood:	n/a	n/a
44	CTCF	chr14:43879540-43879690	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:43922500-43922650	MCF-7	breast:	n/a	chr14:43922577-43922598
46	CTCF	chr14:43922499-43922646	MCF-7	breast:	n/a	chr14:43922577-43922598
47	CTCF	chr14:43879956-43880141	MCF-7	breast:	n/a	n/a
48	CTCF	chr14:43813183-43813291	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr14:43922576-43922594	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr14:43916633-43916702	Medullo	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
2	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
3	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
4	chr14:43852687..43854424-chr14:43860035..43862313,2	K562	blood:
5	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
6	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
7	chr14:43865357..43867874-chr14:43869727..43871855,2	MCF-7	breast:
8	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
9	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:
10	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
11	chr14:43880917..43882900-chr14:43887178..43889627,2	MCF-7	breast:
12	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
13	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
14	chr14:43879061..43882609-chr14:43885109..43888407,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-7	chr14:43769466-43769798	NONHSAT036596

Variant related genes	Relation type
HNRNPUP1	TF binding region

Extended variants
information (count: 1371 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1371 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554308381	chr14:43766115-43766116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188919577	chr14:43766150-43766151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11846865	chr14:43766168-43766169	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543010693	chr14:43766207-43766208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs193070124	chr14:43766213-43766214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs184212097	chr14:43766232-43766233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs563914012	chr14:43766282-43766283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187398233	chr14:43766324-43766325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7156437	chr14:43766900-43766901	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs141084056	chr14:43766904-43766905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs140194069	chr14:43766907-43766908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139247838	chr14:43766976-43766977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185867360	chr14:43769502-43769503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs75663796	chr14:43769506-43769507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs577039959	chr14:43769508-43769509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs566804926	chr14:43769543-43769544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12890469	chr14:43769546-43769547	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530037185	chr14:43769549-43769550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs369711565	chr14:43769571-43769572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs368281499	chr14:43769593-43769594	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs368435003	chr14:43769604-43769605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs190975311	chr14:43769608-43769609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs142150271	chr14:43769669-43769670	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs112757416	chr14:43769671-43769672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs528339375	chr14:43769689-43769690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs546934225	chr14:43769701-43769702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs571430212	chr14:43769715-43769716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs538866060	chr14:43769717-43769718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs549283968	chr14:43769731-43769732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs550695419	chr14:43769764-43769765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs370570992	chr14:43777648-43777649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572554888	chr14:43777791-43777792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78366464	chr14:43777815-43777816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544036632	chr14:43777817-43777818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562706608	chr14:43777848-43777849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376063420	chr14:43777863-43777864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186721026	chr14:43777881-43777882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57843252	chr14:43777885-43777886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145738958	chr14:43777891-43777892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189102640	chr14:43777913-43777914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559701592	chr14:43777930-43777931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551389195	chr14:43777931-43777932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76536244	chr14:43777940-43777941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571098463	chr14:43777950-43777951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571327263	chr14:43777956-43777957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374195000	chr14:43777957-43777958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180943029	chr14:43777978-43777979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147805667	chr14:43778000-43778001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79538014	chr14:43778069-43778070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140180614	chr14:43778107-43778108	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43777600-43778400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:43782800-43783200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:43783200-43783600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:43795600-43796200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:43795800-43796200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:43816600-43829600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:43825800-43827200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:43826000-43826800	Enhancers	Pancreas	Pancrea
9	chr14:43826000-43827200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:43826200-43826800	Enhancers	Fetal Lung	lung
11	chr14:43826800-43828400	Weak transcription	Pancreas	Pancrea
12	chr14:43826800-43830800	Weak transcription	Fetal Lung	lung
13	chr14:43826800-43839400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:43828400-43829800	Enhancers	Pancreas	Pancrea
15	chr14:43829600-43829800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:43829800-43830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:43829800-43831800	Weak transcription	Pancreas	Pancrea
18	chr14:43830800-43831600	Enhancers	Fetal Lung	lung
19	chr14:43831600-43834000	Weak transcription	Fetal Lung	lung
20	chr14:43831800-43832000	Enhancers	Pancreas	Pancrea
21	chr14:43834000-43834200	Enhancers	Fetal Lung	lung
22	chr14:43839000-43840000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:43839400-43839800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:43839400-43840000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:43876200-43876600	Enhancers	Hela-S3	cervix
26	chr14:43879800-43880200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:43881800-43882800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr14:43886800-43888400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:43887000-43887200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:43887400-43887800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr14:43887400-43888000	Enhancers	Primary hematopoietic stem cells	blood
32	chr14:43887400-43888000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:43887400-43888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:43918000-43919200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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