Variant report

Variant	nsv542062
Chromosome Location	chr14:43277389-43400554
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	BACH1	chr14:43324407-43324692	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:43331466-43331661	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:43326560-43326727	ECC-1	luminal epithelium:	n/a	chr14:43326614-43326625
4	CEBPB	chr14:43333949-43334248	IMR90	lung:	n/a	chr14:43334100-43334111
5	CEBPB	chr14:43333965-43334269	A549	lung:	n/a	chr14:43334100-43334111
6	CEBPB	chr14:43314011-43314256	A549	lung:	n/a	chr14:43314163-43314174
7	CEBPB	chr14:43333933-43334260	HepG2	liver:	n/a	chr14:43334100-43334111
8	CEBPB	chr14:43326483-43326809	IMR90	lung:	n/a	chr14:43326614-43326625
9	CEBPB	chr14:43353359-43353618	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr14:43326482-43326808	A549	lung:	n/a	chr14:43326614-43326625
11	CEBPB	chr14:43341303-43341536	HepG2	liver:	n/a	chr14:43341407-43341418
12	CEBPB	chr14:43326456-43326814	Hela-S3	cervix:	n/a	chr14:43326614-43326625
13	CEBPB	chr14:43301571-43301786	A549	lung:	n/a	n/a
14	CEBPB	chr14:43353318-43353640	A549	lung:	n/a	n/a
15	CEBPB	chr14:43359925-43360263	HepG2	liver:	n/a	chr14:43360070-43360081
16	CEBPB	chr14:43326502-43326797	H1-hESC	embryonic stem cell:	n/a	chr14:43326614-43326625
17	CEBPB	chr14:43391160-43391477	HepG2	liver:	n/a	chr14:43391316-43391327 chr14:43391316-43391329 chr14:43391317-43391328 chr14:43391316-43391329
18	CEBPB	chr14:43326514-43326823	A549	lung:	n/a	chr14:43326614-43326625
19	CEBPB	chr14:43360942-43361442	HepG2	liver:	n/a	chr14:43361339-43361350
20	CEBPB	chr14:43342217-43342506	HepG2	liver:	n/a	n/a
21	CEBPB	chr14:43360063-43360104	H1-hESC	embryonic stem cell:	n/a	chr14:43360070-43360081
22	CEBPB	chr14:43333932-43334297	Hela-S3	cervix:	n/a	chr14:43334100-43334111
23	CEBPB	chr14:43342276-43342436	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr14:43353302-43353713	A549	lung:	n/a	n/a
25	CEBPB	chr14:43353343-43353620	ECC-1	luminal epithelium:	n/a	n/a
26	CEBPB	chr14:43290599-43290911	A549	lung:	n/a	chr14:43290725-43290738 chr14:43290725-43290736 chr14:43290725-43290738
27	CEBPB	chr14:43353267-43353697	IMR90	lung:	n/a	n/a
28	CEBPB	chr14:43313989-43314318	HepG2	liver:	n/a	chr14:43314163-43314174
29	CEBPB	chr14:43396552-43396860	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr14:43353264-43353739	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr14:43314175-43314216	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr14:43326458-43326808	HepG2	liver:	n/a	chr14:43326614-43326625
33	CEBPB	chr14:43359892-43360235	IMR90	lung:	n/a	chr14:43360070-43360081
34	CEBPB	chr14:43281991-43282284	IMR90	lung:	n/a	n/a
35	CHD2	chr14:43399297-43399299	HepG2	liver:	n/a	n/a
36	CHD2	chr14:43353334-43353566	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr14:43380960-43381110	Caco-2	colon:	n/a	n/a
38	CTCF	chr14:43380840-43380990	NHEK	skin:	n/a	n/a
39	CTCF	chr14:43380820-43381110	HVMF	connective:	n/a	n/a
40	CTCF	chr14:43380921-43381169	GM12878	blood:	n/a	n/a
41	CTCF	chr14:43380960-43381110	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr14:43296020-43296170	HepG2	liver:	n/a	n/a
43	CTCF	chr14:43380880-43381030	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr14:43380980-43381130	AG04450	lung:	n/a	n/a
45	CTCF	chr14:43380900-43381050	RPTEC	kidney:	n/a	n/a
46	CTCF	chr14:43380805-43380828	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr14:43323400-43323550	AG04450	lung:	n/a	n/a
48	CTCF	chr14:43380983-43381121	LNCaP	prostate:	n/a	n/a
49	CTCF	chr14:43380920-43381070	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr14:43380947-43381136	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:43301377..43304001-chr14:43306700..43308572,2	MCF-7	breast:
2	chr14:43302047..43305033-chr14:43305194..43307245,2	MCF-7	breast:
3	chr14:43380269..43381028-chr14:44264574..44265376,2	MCF-7	breast:
4	chr14:43390134..43392136-chr14:43396787..43398686,2	MCF-7	breast:
5	chr14:43302047..43305033-chr14:43305194..43307245,2	MCF-7	breast:
6	chr1:37940108..37941690-chr14:43314762..43317378,2	MCF-7	breast:
7	chr10:42398870..42399833-chr14:43322802..43323708,2	MCF-7	breast:
8	chr14:43390134..43392136-chr14:43396787..43398686,2	MCF-7	breast:
9	chr14:43301377..43304001-chr14:43306700..43308572,2	MCF-7	breast:
10	chr14:43363585..43364127-chr16:88972090..88972960,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-2	chr14:43285583-43285888	NONHSAT036588

Variant related genes	Relation type
ENSG00000258934	TF binding region
ENSG00000163874	chromatin interactions

Extended variants
information (count: 1035 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146421440	chr14:43277556-43277557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs558618212	chr14:43277860-43277861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs571560287	chr14:43277872-43277873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143739206	chr14:43277880-43277881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs148169855	chr14:43277927-43277928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576897286	chr14:43277934-43277935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs185515388	chr14:43277942-43277943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188828027	chr14:43278090-43278091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201044756	chr14:43278160-43278161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567492887	chr14:43278162-43278163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs377105606	chr14:43278805-43278806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548712585	chr14:43278813-43278814	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs543993036	chr14:43278882-43278883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571587343	chr14:43279071-43279072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147488007	chr14:43279085-43279086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546728479	chr14:43279087-43279088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575236944	chr14:43279156-43279157	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs77452928	chr14:43279168-43279169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554658554	chr14:43279191-43279192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs189103293	chr14:43279271-43279272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565162642	chr14:43279412-43279413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138632556	chr14:43279514-43279515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532549505	chr14:43279520-43279521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544543004	chr14:43279530-43279531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532542114	chr14:43279615-43279616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149299622	chr14:43279666-43279667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548250394	chr14:43279702-43279703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114724071	chr14:43279703-43279704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72685947	chr14:43279722-43279723	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72685949	chr14:43279730-43279731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371464109	chr14:43279752-43279753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571502379	chr14:43279755-43279756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568579601	chr14:43279791-43279792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548432137	chr14:43279792-43279793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79055668	chr14:43279819-43279820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs66500551	chr14:43279835-43279836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551600025	chr14:43279849-43279850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571367731	chr14:43279855-43279856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72685951	chr14:43279867-43279868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77344206	chr14:43279888-43279889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181197980	chr14:43279889-43279890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572772328	chr14:43279923-43279924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533672549	chr14:43279934-43279935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533875401	chr14:43279944-43279945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77661789	chr14:43279960-43279961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78828413	chr14:43279961-43279962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34101659	chr14:43279969-43279970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558218107	chr14:43280045-43280046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112839604	chr14:43280075-43280076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112315061	chr14:43280080-43280081	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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43275800-43277400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:43275800-43277400	Enhancers	Fetal Lung	lung
3	chr14:43279400-43280400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:43284800-43285400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:43290800-43291200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:43308000-43308400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:43308200-43308400	Enhancers	Pancreas	Pancrea
8	chr14:43320200-43322400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:43321600-43322000	Enhancers	Fetal Kidney	kidney
10	chr14:43322400-43324200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:43323200-43323600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:43323200-43324800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:43323200-43324800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:43323600-43324000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:43324000-43324400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:43324000-43325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:43324200-43324600	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:43324200-43324600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:43324200-43324800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:43324200-43324800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:43324200-43324800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:43324200-43324800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:43324400-43324600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:43324400-43324800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:43324400-43324800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:43324600-43324800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:43329000-43329200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:43329200-43330400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:43330400-43331600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:43331200-43331600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:43331200-43331600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:43331200-43331800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:43337800-43338200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr14:43341800-43342400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:43341800-43342600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:43341800-43342600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:43342000-43342400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:43342000-43342400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:43342000-43342400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:43342000-43342400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:43342200-43342400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:43342200-43342600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:43349000-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:43349200-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:43349600-43353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:43352400-43354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:43352600-43353000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:43352800-43354000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr14:43352800-43354200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:43353400-43353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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