Variant report

Variant	nsv1044315
Chromosome Location	chr14:42875390-43007513
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	ATF2	chr14:42890942-42891236	GM12878	blood:	n/a	n/a
2	ATF2	chr14:42898123-42898538	GM12878	blood:	n/a	n/a
3	ATF2	chr14:42898121-42898501	GM12878	blood:	n/a	n/a
4	BATF	chr14:42890963-42891282	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
5	BATF	chr14:42992903-42993204	GM12878	blood:	n/a	n/a
6	BATF	chr14:42890928-42891203	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
7	BATF	chr14:42898158-42898555	GM12878	blood:	n/a	n/a
8	BCL11A	chr14:42992865-42993250	GM12878	blood:	n/a	n/a
9	BCL11A	chr14:42898127-42898592	GM12878	blood:	n/a	n/a
10	BCL11A	chr14:42944608-42944827	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr14:42890931-42891249	GM12878	blood:	n/a	n/a
12	BCL11A	chr14:42898070-42898555	GM12878	blood:	n/a	n/a
13	BHLHE40	chr14:42898065-42898516	GM12878	blood:	n/a	n/a
14	CCNT2	chr14:42932649-42932849	K562	blood:	n/a	n/a
15	CEBPB	chr14:43006799-43007063	IMR90	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
16	CEBPB	chr14:42995827-42996065	HepG2	liver:	n/a	chr14:42995926-42995937 chr14:42995924-42995935
17	CEBPB	chr14:42973693-42973995	A549	lung:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
18	CEBPB	chr14:43006767-43007104	HepG2	liver:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
19	CEBPB	chr14:42941893-42942056	HepG2	liver:	n/a	chr14:42941935-42941946
20	CEBPB	chr14:42947135-42947467	HepG2	liver:	n/a	chr14:42947307-42947320 chr14:42947309-42947320 chr14:42947307-42947318
21	CEBPB	chr14:42947180-42947425	A549	lung:	n/a	chr14:42947307-42947320 chr14:42947309-42947320 chr14:42947307-42947318
22	CEBPB	chr14:42973675-42974008	IMR90	lung:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
23	CEBPB	chr14:42973667-42974028	HepG2	liver:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
24	CEBPB	chr14:42917905-42918115	HepG2	liver:	n/a	chr14:42918004-42918015
25	CEBPB	chr14:42973793-42973878	K562	blood:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
26	CEBPB	chr14:42934361-42934461	HepG2	liver:	n/a	chr14:42934388-42934399
27	CEBPB	chr14:42968773-42969081	HepG2	liver:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
28	CEBPB	chr14:42970807-42970999	HepG2	liver:	n/a	chr14:42970856-42970867
29	CEBPB	chr14:42968790-42969062	A549	lung:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
30	CEBPB	chr14:42968792-42969062	IMR90	lung:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
31	CEBPB	chr14:42898784-42898952	HepG2	liver:	n/a	chr14:42898837-42898848
32	CEBPB	chr14:42973656-42974004	Hela-S3	cervix:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
33	CEBPB	chr14:43006817-43007048	A549	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
34	CHD1	chr14:42898060-42898418	GM12878	blood:	n/a	n/a
35	CHD2	chr14:42898044-42898538	GM12878	blood:	n/a	n/a
36	CTCF	chr14:43004680-43004830	A549	lung:	n/a	n/a
37	CTCF	chr14:43004686-43004900	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr14:42900940-42901090	GM12864	blood:	n/a	n/a
39	CTCF	chr14:43004796-43004819	GM12891	blood:	n/a	n/a
40	CTCF	chr14:43004731-43004911	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr14:43004680-43004830	NB4	blood:	n/a	n/a
42	CTCF	chr14:43004729-43004887	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:43004778-43004868	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:42926738-42926794	GM20000	blood:	n/a	n/a
45	CTCF	chr14:43004780-43004930	HVMF	connective:	n/a	n/a
46	CTCF	chr14:43004780-43004840	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:43004799-43004817	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr14:43004700-43004850	GM12874	blood:	n/a	n/a
49	CTCF	chr14:42992956-42993121	GM12878	blood:	n/a	n/a
50	CTCF	chr14:43004702-43004924	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:42955061..42956041-chr18:32446617..32447280,2	MCF-7	breast:
2	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:
3	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:
4	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:
5	chr14:42933286..42933984-chr3:29810719..29811455,2	MCF-7	breast:
6	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
7	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-2	chr14:42881776-42883030	NONHSAT036588
2	lnc-RP11-214N1.1.1-2	chr14:42997872-42998091	ENSG00000258850.1
3	lnc-RP11-214N1.1.1-2	chr14:42997872-42998001	NONHSAT036588
4	lnc-RP11-214N1.1.1-2	chr14:42998014-42998060	NONHSAT036588
5	lnc-RP11-214N1.1.1-2	chr14:42972301-42972709	NONHSAT036588
6	lnc-RP11-214N1.1.1-2	chr14:42881776-42882409	ENSG00000258850.1

Variant related genes	Relation type
ENSG00000258850	TF binding region

Extended variants
information (count: 2455 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2455 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373871832	chr14:42876809-42876810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555937908	chr14:42876817-42876818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574221466	chr14:42876819-42876820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541688157	chr14:42876845-42876846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556804283	chr14:42876846-42876847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533145834	chr14:42876874-42876875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs180894492	chr14:42876926-42876927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12881180	chr14:42876996-42876997	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs531041876	chr14:42876998-42876999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142109526	chr14:42876999-42877000	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551109202	chr14:42877552-42877553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs141865233	chr14:42877583-42877584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs150613120	chr14:42877623-42877624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs982337	chr14:42877636-42877637	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533275194	chr14:42877670-42877671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs181169235	chr14:42877676-42877677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569610538	chr14:42877695-42877696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2813713	chr14:42877794-42877795	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79057714	chr14:42877800-42877801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535782548	chr14:42877874-42877875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563365216	chr14:42877923-42877924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs534840061	chr14:42877931-42877932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555978618	chr14:42877935-42877936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs111257167	chr14:42881007-42881008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560725166	chr14:42881035-42881036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143253862	chr14:42881093-42881094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2626833	chr14:42881109-42881110	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570837077	chr14:42881129-42881130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72621058	chr14:42881130-42881131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113193518	chr14:42881133-42881134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375691820	chr14:42881184-42881185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536013445	chr14:42881185-42881186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564480774	chr14:42881201-42881202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77862401	chr14:42881214-42881215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533859149	chr14:42881299-42881300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34041399	chr14:42881315-42881316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375296556	chr14:42881316-42881317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397852345	chr14:42881319-42881320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558453705	chr14:42881326-42881327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148305496	chr14:42881365-42881366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544240849	chr14:42881476-42881477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562396097	chr14:42881496-42881497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540391255	chr14:42881520-42881521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574481648	chr14:42881534-42881535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542405318	chr14:42881545-42881546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560688770	chr14:42881576-42881577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527916361	chr14:42881591-42881592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542065304	chr14:42881613-42881614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564809705	chr14:42881663-42881664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531606523	chr14:42881672-42881673	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42881000-42882000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:42890200-42891200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:42890400-42890600	Bivalent/Poised TSS	Gastric	stomach
4	chr14:42890400-42890800	Enhancers	NHEK	skin
5	chr14:42890400-42891000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:42890600-42890800	Active TSS	Gastric	stomach
7	chr14:42891000-42891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:42891400-42891600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:42891600-42898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:42893800-42894600	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:42894600-42897800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:42897800-42899200	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:42898000-42899000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:42898000-42899000	Enhancers	NHEK	skin
15	chr14:42898400-42899200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:42919800-42920200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr14:42929200-42929400	Enhancers	Esophagus	oesophagus
18	chr14:42929400-42933400	Weak transcription	Esophagus	oesophagus
19	chr14:42933400-42933600	ZNF genes & repeats	Esophagus	oesophagus
20	chr14:42938400-42938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:42938600-42939400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:42938800-42939200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:42938800-42939600	Active TSS	A549	lung
24	chr14:42939000-42939400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:42939200-42939600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:42942000-42942200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:42942000-42942200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:42942200-42943200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:42942200-42943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:42943000-42951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:42943200-42944600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:42943200-42946400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:42943400-42943800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr14:42943600-42944400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr14:42943600-42944600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr14:42943600-42946400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:42943800-42944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:42943800-42944400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr14:42943800-42944600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:42943800-42944600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:42943800-42946000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:42944200-42948400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:42944400-42944600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr14:42944400-42944800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr14:42944600-42944800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:42944600-42944800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr14:42944600-42945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:42944800-42946200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr14:42944800-42948400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:42945800-42946000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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