Variant report

Variant	esv2758354
Chromosome Location	chr14:42863795-43008829
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	chr14:42992903-42993204	GM12878	blood:	n/a	n/a
5	BATF	chr14:42898158-42898555	GM12878	blood:	n/a	n/a
6	BATF	chr14:42890928-42891203	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
7	BATF	chr14:42890963-42891282	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
8	BCL11A	chr14:42898070-42898555	GM12878	blood:	n/a	n/a
9	BCL11A	chr14:42898127-42898592	GM12878	blood:	n/a	n/a
10	BCL11A	chr14:42992865-42993250	GM12878	blood:	n/a	n/a
11	BCL11A	chr14:42944608-42944827	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr14:42890931-42891249	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	chr14:42973793-42973878	K562	blood:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
16	CEBPB	chr14:42934361-42934461	HepG2	liver:	n/a	chr14:42934388-42934399
17	CEBPB	chr14:42973656-42974004	Hela-S3	cervix:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
18	CEBPB	chr14:42868466-42868631	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:42970807-42970999	HepG2	liver:	n/a	chr14:42970856-42970867
20	CEBPB	chr14:42941893-42942056	HepG2	liver:	n/a	chr14:42941935-42941946
21	CEBPB	chr14:42973675-42974008	IMR90	lung:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
22	CEBPB	chr14:42973693-42973995	A549	lung:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
23	CEBPB	chr14:43006799-43007063	IMR90	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
24	CEBPB	chr14:42968773-42969081	HepG2	liver:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
25	CEBPB	chr14:42968792-42969062	IMR90	lung:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
26	CEBPB	chr14:42947180-42947425	A549	lung:	n/a	chr14:42947307-42947320 chr14:42947309-42947320 chr14:42947307-42947318
27	CEBPB	chr14:42973667-42974028	HepG2	liver:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
28	CEBPB	chr14:42968790-42969062	A549	lung:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
29	CEBPB	chr14:43006767-43007104	HepG2	liver:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
30	CEBPB	chr14:42995827-42996065	HepG2	liver:	n/a	chr14:42995926-42995937 chr14:42995924-42995935
31	CEBPB	chr14:43006817-43007048	A549	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
32	CEBPB	chr14:42947135-42947467	HepG2	liver:	n/a	chr14:42947307-42947320 chr14:42947309-42947320 chr14:42947307-42947318
33	CEBPB	chr14:42898784-42898952	HepG2	liver:	n/a	chr14:42898837-42898848
34	CEBPB	chr14:42917905-42918115	HepG2	liver:	n/a	chr14:42918004-42918015
35	CHD1	chr14:42898060-42898418	GM12878	blood:	n/a	n/a
36	CHD2	chr14:42898044-42898538	GM12878	blood:	n/a	n/a
37	CTCF	chr14:43004780-43004930	HVMF	connective:	n/a	n/a
38	CTCF	chr14:42992956-42993121	GM12878	blood:	n/a	n/a
39	CTCF	chr14:43004686-43004900	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr14:43004778-43004868	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:42900940-42901090	GM12864	blood:	n/a	n/a
42	CTCF	chr14:43004598-43004892	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr14:43004760-43004910	GM12874	blood:	n/a	n/a
44	CTCF	chr14:43004680-43004830	NB4	blood:	n/a	n/a
45	CTCF	chr14:43004711-43004885	Gliobla	brain:	n/a	n/a
46	CTCF	chr14:43004780-43004840	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:43004773-43004858	MCF-7	breast:	n/a	n/a
48	CTCF	chr14:43004680-43004830	A549	lung:	n/a	n/a
49	CTCF	chr14:42926738-42926794	GM20000	blood:	n/a	n/a
50	CTCF	chr14:42955061-42955120	Kidney_OC	kidney:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-2	chr14:42997872-42998091	ENSG00000258850.1
2	lnc-RP11-214N1.1.1-2	chr14:42997872-42998001	NONHSAT036588
3	lnc-RP11-214N1.1.1-2	chr14:42881776-42882409	ENSG00000258850.1
4	lnc-RP11-214N1.1.1-2	chr14:42998014-42998060	NONHSAT036588
5	lnc-RP11-214N1.1.1-2	chr14:42881776-42883030	NONHSAT036588
6	lnc-RP11-214N1.1.1-1	chr14:42864148-42864295	ENSG00000258394.1
7	lnc-RP11-214N1.1.1-2	chr14:42972301-42972709	NONHSAT036588

Variant related genes	Relation type
ENSG00000258850	TF binding region

Extended variants
information (count: 2639 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2639 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116201413	chr14:42863800-42863801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544384894	chr14:42863803-42863804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559729686	chr14:42863827-42863828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144726804	chr14:42863837-42863838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564255779	chr14:42863866-42863867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115029870	chr14:42863868-42863869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551507466	chr14:42863883-42863884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552274413	chr14:42863887-42863888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570479645	chr14:42863904-42863905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148285200	chr14:42863912-42863913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113708548	chr14:42863982-42863983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186031173	chr14:42864015-42864016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74737295	chr14:42864052-42864053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554166681	chr14:42864078-42864079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540527827	chr14:42864087-42864088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67013481	chr14:42864093-42864094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74049737	chr14:42864098-42864099	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189781886	chr14:42864113-42864114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576501003	chr14:42864151-42864152	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371765065	chr14:42864211-42864212	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs544393416	chr14:42864235-42864236	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562347339	chr14:42864273-42864274	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs183154367	chr14:42864294-42864295	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs376122986	chr14:42864322-42864323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150304695	chr14:42864326-42864327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529243081	chr14:42864336-42864337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34081336	chr14:42864360-42864361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7140476	chr14:42864428-42864429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564196984	chr14:42864447-42864448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61143507	chr14:42864451-42864452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562966927	chr14:42864488-42864489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550300509	chr14:42864533-42864534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73318714	chr14:42864620-42864621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373522517	chr14:42864648-42864649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548131190	chr14:42864649-42864650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551588621	chr14:42864670-42864671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375561981	chr14:42864679-42864680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539811194	chr14:42864721-42864722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560830094	chr14:42864738-42864739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201001898	chr14:42864742-42864743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201514820	chr14:42864756-42864757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115950242	chr14:42864789-42864790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10141262	chr14:42864833-42864834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs137929903	chr14:42864854-42864855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17112945	chr14:42864933-42864934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574315956	chr14:42864947-42864948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35413023	chr14:42864989-42864990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541653673	chr14:42865000-42865001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186276817	chr14:42865039-42865040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368586978	chr14:42865096-42865097	Weak transcription	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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42862000-42864000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:42864000-42864200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:42864200-42865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:42865200-42866200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:42868000-42869200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:42881000-42882000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:42890200-42891200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:42890400-42890600	Bivalent/Poised TSS	Gastric	stomach
9	chr14:42890400-42890800	Enhancers	NHEK	skin
10	chr14:42890400-42891000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:42890600-42890800	Active TSS	Gastric	stomach
12	chr14:42891000-42891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:42891400-42891600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:42891600-42898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:42893800-42894600	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:42894600-42897800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:42897800-42899200	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:42898000-42899000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:42898000-42899000	Enhancers	NHEK	skin
20	chr14:42898400-42899200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:42919800-42920200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr14:42929200-42929400	Enhancers	Esophagus	oesophagus
23	chr14:42929400-42933400	Weak transcription	Esophagus	oesophagus
24	chr14:42933400-42933600	ZNF genes & repeats	Esophagus	oesophagus
25	chr14:42938400-42938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:42938600-42939400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:42938800-42939200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:42938800-42939600	Active TSS	A549	lung
29	chr14:42939000-42939400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:42939200-42939600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:42942000-42942200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:42942000-42942200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:42942200-42943200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:42942200-42943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:42943000-42951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:42943200-42944600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:42943200-42946400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:42943400-42943800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr14:42943600-42944400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:42943600-42944600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr14:42943600-42946400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:42943800-42944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:42943800-42944400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr14:42943800-42944600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr14:42943800-42944600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:42943800-42946000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:42944200-42948400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:42944400-42944600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr14:42944400-42944800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr14:42944600-42944800	Enhancers	H1 Cell Line	embryonic stem cell

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