Variant report

Variant	nsv1035926
Chromosome Location	chr14:42987451-43100892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:43088748-43088782	K562	blood:	n/a	n/a
2	BATF	chr14:42992903-42993204	GM12878	blood:	n/a	n/a
3	BCL11A	chr14:42992865-42993250	GM12878	blood:	n/a	n/a
4	BRCA1	chr14:43010506-43011087	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr14:43010664-43011294	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr14:43098443-43098643	A549	lung:	n/a	n/a
7	CEBPB	chr14:43098476-43098668	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:43094448-43094984	HepG2	liver:	n/a	chr14:43094870-43094883 chr14:43094573-43094586 chr14:43094870-43094881
9	CEBPB	chr14:43058980-43059253	A549	lung:	n/a	chr14:43059110-43059121
10	CEBPB	chr14:43088915-43089065	HepG2	liver:	n/a	n/a
11	CEBPB	chr14:43006817-43007048	A549	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
12	CEBPB	chr14:43058937-43059272	HepG2	liver:	n/a	chr14:43059110-43059121
13	CEBPB	chr14:43088861-43089038	A549	lung:	n/a	n/a
14	CEBPB	chr14:43006799-43007063	IMR90	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
15	CEBPB	chr14:42995827-42996065	HepG2	liver:	n/a	chr14:42995926-42995937 chr14:42995924-42995935
16	CEBPB	chr14:43009532-43009798	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:43057650-43057809	HepG2	liver:	n/a	chr14:43057739-43057750
18	CEBPB	chr14:43020465-43020677	HepG2	liver:	n/a	chr14:43020529-43020540
19	CEBPB	chr14:43045458-43045742	HepG2	liver:	n/a	chr14:43045602-43045613
20	CEBPB	chr14:43081131-43081221	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr14:43071917-43072221	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:43006767-43007104	HepG2	liver:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
23	CHD2	chr14:43040531-43040693	HepG2	liver:	n/a	n/a
24	CTCF	chr14:43031960-43032110	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr14:43004729-43004887	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:43031980-43032130	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr14:43032040-43032190	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr14:43033860-43034010	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr14:43004799-43004817	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr14:43033920-43034070	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:43014776-43015011	GM12878	blood:	n/a	n/a
32	CTCF	chr14:43031196-43031226	GM10266	blood:	n/a	n/a
33	CTCF	chr14:43033880-43034030	AG10803	skin:	n/a	n/a
34	CTCF	chr14:43033840-43033990	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr14:43033880-43034030	HCT-116	colon:	n/a	n/a
36	CTCF	chr14:43004731-43004911	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr14:43041340-43041490	A549	lung:	n/a	n/a
38	CTCF	chr14:43004680-43004830	A549	lung:	n/a	n/a
39	CTCF	chr14:42992956-42993121	GM12878	blood:	n/a	n/a
40	CTCF	chr14:43033740-43033890	HCT-116	colon:	n/a	n/a
41	CTCF	chr14:43004796-43004819	GM12891	blood:	n/a	n/a
42	CTCF	chr14:43004680-43004830	NB4	blood:	n/a	n/a
43	CTCF	chr14:43041371-43041426	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr14:43033880-43034030	HMF	breast:	n/a	n/a
45	CTCF	chr14:43032005-43032092	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr14:43031940-43032090	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr14:43033878-43034029	MCF-7	breast:	n/a	n/a
48	CTCF	chr14:43031960-43032110	HEK293	kidney:	n/a	n/a
49	CTCF	chr14:43004780-43004840	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:43004711-43004885	Gliobla	brain:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43090850..43092635-chr14:43095537..43098102,2	K562	blood:
2	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:
3	chr14:43055616..43058571-chr14:43062767..43065185,2	MCF-7	breast:
4	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:
5	chr14:43078769..43080628-chr14:43081211..43084199,2	MCF-7	breast:
6	chr14:42579463..42579970-chr14:43055430..43056355,2	MCF-7	breast:
7	chr14:43055616..43058571-chr14:43062767..43065185,2	MCF-7	breast:
8	chr14:43030553..43031053-chr17:8338863..8339416,2	Hela-S3	cervix:
9	chr14:43090850..43092635-chr14:43095537..43098102,2	K562	blood:
10	chr14:43078769..43080628-chr14:43081211..43084199,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

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	chr14:42998014-42998060	NONHSAT036588
4	lnc-RP11-214N1.1.1-3	chr14:43078071-43078780	NONHSAT036591

No data

Variant related genes	Relation type
ENSG00000258505	TF binding region
ENSG00000166579	chromatin interactions

Extended variants
information (count: 1899 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1899 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550352622	chr14:42987461-42987462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568583235	chr14:42987476-42987477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536113401	chr14:42987481-42987482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547810871	chr14:42987491-42987492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542052260	chr14:42987524-42987525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114160160	chr14:42987565-42987566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185744426	chr14:42987618-42987619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576085720	chr14:42987639-42987640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537149508	chr14:42987691-42987692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140765486	chr14:42987698-42987699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149684888	chr14:42987711-42987712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574559662	chr14:42987724-42987725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78258228	chr14:42987731-42987732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560238304	chr14:42987736-42987737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572000996	chr14:42987782-42987783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545777246	chr14:42987784-42987785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570650510	chr14:42987812-42987813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12879582	chr14:42987866-42987867	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533072740	chr14:42987901-42987902	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72680444	chr14:42987960-42987961	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549918850	chr14:42987983-42987984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562293151	chr14:42988000-42988001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115130629	chr14:42988009-42988010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548065562	chr14:42988017-42988018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76425345	chr14:42988034-42988035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190559268	chr14:42988160-42988161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145897695	chr14:42988202-42988203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569734511	chr14:42988272-42988273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537110778	chr14:42988325-42988326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12884459	chr14:42988346-42988347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138478630	chr14:42988367-42988368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535334153	chr14:42988387-42988388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549121609	chr14:42988409-42988410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553944811	chr14:42988431-42988432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78464557	chr14:42988489-42988490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183000738	chr14:42988529-42988530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557753025	chr14:42988549-42988550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188173605	chr14:42988578-42988579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59863336	chr14:42988620-42988621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538034418	chr14:42988675-42988676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558476595	chr14:42988690-42988691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553237220	chr14:42988731-42988732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143231320	chr14:42988736-42988737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561678584	chr14:42988771-42988772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112645693	chr14:42988786-42988787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559899942	chr14:42988795-42988796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533416582	chr14:42988816-42988817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2415750	chr14:42988819-42988820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569697431	chr14:42988872-42988873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148332732	chr14:42988891-42988892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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	20967226	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42984200-42987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:42987200-42987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:42987200-42987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:42987200-42987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:42987800-42988000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
14	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:42993000-42993200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:42993000-42993200	Enhancers	Brain Substantia Nigra	brain
18	chr14:42993000-42993200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr14:42993000-42993200	Enhancers	Fetal Lung	lung
20	chr14:42993000-42993600	Enhancers	Fetal Brain Female	brain
21	chr14:42993200-42996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:42993600-42994000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:42994000-42994600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:42996600-42997200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:42997200-42997600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:43002400-43002800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:43002400-43003000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:43002800-43010800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:43004400-43004800	Active TSS	A549	lung
30	chr14:43004600-43004800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:43010600-43011200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:43010600-43011400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:43010800-43011400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:43011000-43011400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:43011000-43011600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:43011200-43011600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:43013600-43013800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:43017400-43017800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:43017800-43019800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:43018800-43020200	Enhancers	Fetal Heart	heart
41	chr14:43019000-43020200	Enhancers	Fetal Brain Male	brain
42	chr14:43019400-43020200	Enhancers	Fetal Brain Female	brain
43	chr14:43020200-43023400	Weak transcription	Fetal Heart	heart
44	chr14:43023400-43023800	Flanking Active TSS	Fetal Heart	heart
45	chr14:43023800-43024800	Enhancers	Fetal Heart	heart
46	chr14:43024800-43025200	Flanking Active TSS	Fetal Heart	heart
47	chr14:43025200-43026600	Enhancers	Fetal Heart	heart
48	chr14:43025800-43026200	Enhancers	Fetal Brain Female	brain
49	chr14:43030000-43031400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:43031200-43033200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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