Variant report

Variant	nsv1044624
Chromosome Location	chr14:43737481-43832220
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	BRCA1	chr14:43744368-43744514	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:43751816-43751948	H1-hESC	embryonic stem cell:	n/a	chr14:43751855-43751866
4	CEBPB	chr14:43743731-43744024	HepG2	liver:	n/a	chr14:43743855-43743866 chr14:43743856-43743867 chr14:43743855-43743868
5	CEBPB	chr14:43758431-43758726	HepG2	liver:	n/a	chr14:43758603-43758614
6	CEBPB	chr14:43751694-43752036	A549	lung:	n/a	chr14:43751855-43751866
7	CEBPB	chr14:43751664-43752043	HepG2	liver:	n/a	chr14:43751855-43751866
8	CEBPB	chr14:43751706-43751924	MCF-7	breast:	n/a	chr14:43751855-43751866
9	CEBPB	chr14:43826038-43826600	MCF-7	breast:	n/a	chr14:43826327-43826344
10	CEBPB	chr14:43740863-43741131	HepG2	liver:	n/a	n/a
11	CEBPB	chr14:43799516-43799760	HepG2	liver:	n/a	chr14:43799594-43799605 chr14:43799661-43799678 chr14:43799594-43799607
12	CEBPB	chr14:43777599-43778357	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr14:43797586-43797850	HepG2	liver:	n/a	chr14:43797713-43797724
14	CEBPB	chr14:43751727-43752031	Hela-S3	cervix:	n/a	chr14:43751855-43751866
15	CEBPB	chr14:43826288-43826431	HepG2	liver:	n/a	chr14:43826327-43826344
16	CEBPB	chr14:43826136-43826553	MCF-7	breast:	n/a	chr14:43826327-43826344
17	CEBPB	chr14:43751703-43752032	IMR90	lung:	n/a	chr14:43751855-43751866
18	CEBPB	chr14:43775448-43775758	HepG2	liver:	n/a	chr14:43775607-43775618 chr14:43775606-43775619
19	CEBPB	chr14:43748607-43748868	HepG2	liver:	n/a	chr14:43748766-43748777 chr14:43748767-43748776 chr14:43748674-43748685 chr14:43748765-43748778 chr14:43748674-43748687 chr14:43748674-43748685
20	CEBPZ	chr14:43784271-43784461	HepG2	liver:	n/a	n/a
21	CEBPZ	chr14:43783378-43783823	HepG2	liver:	n/a	n/a
22	CHD2	chr14:43797055-43797062	HepG2	liver:	n/a	n/a
23	CHD2	chr14:43744468-43744800	HepG2	liver:	n/a	n/a
24	CTCF	chr14:43744324-43744348	MCF-7	breast:	n/a	n/a
25	CTCF	chr14:43752540-43752690	HepG2	liver:	n/a	n/a
26	CTCF	chr14:43813150-43813291	GM10248	blood:	n/a	n/a
27	CTCF	chr14:43805303-43805356	ProgFib	skin:	n/a	n/a
28	CTCF	chr14:43751668-43751753	Lung_OC	lung:	n/a	n/a
29	CTCF	chr14:43769528-43769566	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:43769741-43769762	GM13976	blood:	n/a	n/a
31	CTCF	chr14:43750780-43750930	HepG2	liver:	n/a	n/a
32	CTCF	chr14:43811960-43812011	GM20000	blood:	n/a	n/a
33	CTCF	chr14:43820870-43820894	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:43751600-43751750	HepG2	liver:	n/a	n/a
35	CTCF	chr14:43758520-43758670	GM12867	blood:	n/a	n/a
36	CTCF	chr14:43811599-43811704	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:43813183-43813291	Kidney_OC	kidney:	n/a	n/a
38	CTCF	chr14:43744400-43744550	HepG2	liver:	n/a	n/a
39	CTCF	chr14:43762645-43762723	GM13977	blood:	n/a	n/a
40	CTCF	chr14:43744354-43744380	MCF-7	breast:	n/a	n/a
41	E2F4	chr14:43766898-43767000	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr14:43781700-43781855	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr14:43804899-43804909	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr14:43777620-43778122	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr14:43796362-43796365	MCF10A-Er-Src	breast:	n/a	n/a
46	EP300	chr14:43782895-43783339	MCF-7	breast:	n/a	n/a
47	EP300	chr14:43782980-43783402	MCF-7	breast:	n/a	n/a
48	EP300	chr14:43775818-43776305	MCF-7	breast:	n/a	chr14:43776017-43776024 chr14:43776111-43776121
49	EP300	chr14:43783740-43783749	HepG2	liver:	n/a	n/a
50	FOS	chr14:43777571-43778255	MCF10A-Er-Src	breast:	n/a	chr14:43777888-43777900

No.	Distal block	Cell Line	Cell type
1	chr14:43821381..43823520-chr14:43862265..43864179,2	MCF-7	breast:
2	chr14:43819328..43821772-chr14:43825772..43828507,2	MCF-7	breast:
3	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
4	chr14:43753082..43755814-chr14:43755842..43757699,2	MCF-7	breast:
5	chr14:43753082..43755814-chr14:43755842..43757699,2	MCF-7	breast:
6	chr14:43786117..43788131-chr14:43802827..43805151,2	MCF-7	breast:
7	chr14:43819328..43821772-chr14:43825772..43828507,2	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
ENSG00000258406	TF binding region

Extended variants
information (count: 943 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:943 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529666153	chr14:43739573-43739574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548215762	chr14:43739594-43739595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2919480	chr14:43739597-43739598	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2919479	chr14:43739598-43739599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2919478	chr14:43739636-43739637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs139523037	chr14:43739648-43739649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371400937	chr14:43739686-43739687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534556157	chr14:43739746-43739747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs371718445	chr14:43739819-43739820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554252416	chr14:43739826-43739827	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs12891160	chr14:43739834-43739835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535912633	chr14:43739874-43739875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367547825	chr14:43739910-43739911	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs538079002	chr14:43739915-43739916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs192392442	chr14:43739928-43739929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556193418	chr14:43739931-43739932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144182766	chr14:43739992-43739993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150644422	chr14:43739994-43739995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs139745230	chr14:43740003-43740004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs10132834	chr14:43740059-43740060	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540553038	chr14:43740078-43740079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184933519	chr14:43740121-43740122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369573681	chr14:43740202-43740203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs189029073	chr14:43740208-43740209	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143557439	chr14:43740241-43740242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs181701570	chr14:43740246-43740247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs562527514	chr14:43740271-43740272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs186417835	chr14:43740297-43740298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs541843686	chr14:43740325-43740326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs117682536	chr14:43740367-43740368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs189457154	chr14:43740389-43740390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs181447844	chr14:43740405-43740406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs117109079	chr14:43740411-43740412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs558569121	chr14:43740412-43740413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs185787612	chr14:43740452-43740453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs189720403	chr14:43740841-43740842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs544410520	chr14:43740859-43740860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs556442886	chr14:43740861-43740862	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs183230460	chr14:43740862-43740863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs541913268	chr14:43740890-43740891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs535033327	chr14:43740904-43740905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs149122368	chr14:43740958-43740959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs572883182	chr14:43740985-43740986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527240859	chr14:43741023-43741024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs545492157	chr14:43741054-43741055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs564793989	chr14:43741065-43741066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs144513073	chr14:43741084-43741085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs78520450	chr14:43741100-43741101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs12147875	chr14:43741349-43741350	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs141135922	chr14:43741357-43741358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43743400-43745600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:43746600-43747200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:43746800-43747200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr14:43777600-43778400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:43782800-43783200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:43783200-43783600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:43795600-43796200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:43795800-43796200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:43816600-43829600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:43825800-43827200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:43826000-43826800	Enhancers	Pancreas	Pancrea
12	chr14:43826000-43827200	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr14:43826200-43826800	Enhancers	Fetal Lung	lung
14	chr14:43826800-43828400	Weak transcription	Pancreas	Pancrea
15	chr14:43826800-43830800	Weak transcription	Fetal Lung	lung
16	chr14:43826800-43839400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:43828400-43829800	Enhancers	Pancreas	Pancrea
18	chr14:43829600-43829800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:43829800-43830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:43829800-43831800	Weak transcription	Pancreas	Pancrea
21	chr14:43830800-43831600	Enhancers	Fetal Lung	lung
22	chr14:43831600-43834000	Weak transcription	Fetal Lung	lung
23	chr14:43831800-43832000	Enhancers	Pancreas	Pancrea

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