Variant report

Variant	nsv1231
Chromosome Location	chr14:31424602-31444721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:31439439-31439448	K562	blood:	n/a	n/a
2	ARID3A	chr14:31436570-31436799	HepG2	liver:	n/a	n/a
3	ATF1	chr14:31435799-31435996	K562	blood:	n/a	n/a
4	BCLAF1	chr14:31427753-31428225	GM12878	blood:	n/a	chr14:31428044-31428053
5	BHLHE40	chr14:31435723-31435999	K562	blood:	n/a	n/a
6	CEBPB	chr14:31443795-31444182	A549	lung:	n/a	n/a
7	CEBPB	chr14:31441892-31442176	MCF-7	breast:	n/a	chr14:31441962-31441973
8	CEBPB	chr14:31443809-31444259	IMR90	lung:	n/a	n/a
9	CEBPB	chr14:31443808-31444270	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr14:31443913-31444035	K562	blood:	n/a	n/a
11	CEBPB	chr14:31443852-31444243	HepG2	liver:	n/a	n/a
12	CEBPB	chr14:31443755-31444315	A549	lung:	n/a	n/a
13	CEBPB	chr14:31443858-31444026	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:31443817-31444183	MCF-7	breast:	n/a	n/a
15	CEBPB	chr14:31441925-31442061	K562	blood:	n/a	chr14:31441962-31441973
16	CEBPB	chr14:31443816-31444230	A549	lung:	n/a	n/a
17	CEBPB	chr14:31443943-31444118	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr14:31441835-31442051	HepG2	liver:	n/a	chr14:31441962-31441973
19	CHD2	chr14:31443942-31444143	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr14:31439032-31439341	GM12878	blood:	n/a	n/a
21	CTCF	chr14:31435653-31435752	Gliobla	brain:	n/a	n/a
22	CTCF	chr14:31435960-31436110	HepG2	liver:	n/a	n/a
23	CTCF	chr14:31434722-31434741	GM10266	blood:	n/a	n/a
24	CTCF	chr14:31428680-31428830	HepG2	liver:	n/a	n/a
25	CTCF	chr14:31428440-31428590	HepG2	liver:	n/a	n/a
26	CUX1	chr14:31437167-31437176	K562	blood:	n/a	n/a
27	E2F4	chr14:31435142-31435348	MCF10A-Er-Src	breast:	n/a	n/a
28	EBF1	chr14:31439000-31439438	GM12878	blood:	n/a	chr14:31439220-31439231
29	EBF1	chr14:31427903-31428033	GM12878	blood:	n/a	n/a
30	EBF1	chr14:31438999-31439594	GM12878	blood:	n/a	chr14:31439220-31439231
31	EBF1	chr14:31439010-31439487	GM12878	blood:	n/a	chr14:31439220-31439231
32	EP300	chr14:31443881-31444146	Hela-S3	cervix:	n/a	n/a
33	FOS	chr14:31435025-31435355	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr14:31443928-31444236	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr14:31443936-31444231	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr14:31435662-31435996	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr14:31429570-31429595	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr14:31429604-31429639	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr14:31435634-31436002	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr14:31443929-31444216	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr14:31429589-31429684	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr14:31435022-31435388	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr14:31443928-31444228	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr14:31435047-31435358	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr14:31435022-31436004	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr14:31435663-31435984	MCF10A-Er-Src	breast:	n/a	n/a
47	FOXA1	chr14:31436456-31436936	HepG2	liver:	n/a	n/a
48	FOXA1	chr14:31436410-31436965	HepG2	liver:	n/a	n/a
49	FOXA1	chr14:31427168-31427525	HepG2	liver:	n/a	n/a
50	FOXA1	chr14:31436458-31436858	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31425052..31427072-chr14:31430189..31431943,2	K562	blood:
2	chr14:31417991..31420027-chr14:31423345..31424852,2	K562	blood:
3	chr14:31428811..31431049-chr14:31434848..31436931,2	MCF-7	breast:
4	chr14:31428661..31430231-chr14:31430956..31433408,2	MCF-7	breast:
5	chr14:31428811..31431049-chr14:31434848..31436931,2	MCF-7	breast:
6	chr14:31425052..31427072-chr14:31430189..31431943,2	K562	blood:
7	chr14:31442796..31445236-chr14:31495645..31497455,2	MCF-7	breast:
8	chr14:31428661..31430231-chr14:31430956..31433408,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP4S1-4	chr14:31433553-31433828	NONHSAT036260

No data

Variant related genes	Relation type
HIGD1AP17	TF binding region
STRN3	TF binding region
ENSG00000100478	chromatin interactions

Extended variants
information (count: 819 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4340229	chr14:31424647-31424648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554716084	chr14:31424654-31424655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2378813	chr14:31424661-31424662	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146972599	chr14:31424691-31424692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537328929	chr14:31424699-31424700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558939728	chr14:31424741-31424742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578063183	chr14:31424768-31424769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139828466	chr14:31424769-31424770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56235217	chr14:31424791-31424792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76351456	chr14:31424802-31424803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184084729	chr14:31424831-31424832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140591684	chr14:31424833-31424834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111403265	chr14:31424834-31424835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563276807	chr14:31424869-31424870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368540966	chr14:31424875-31424876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35892475	chr14:31424969-31424970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9671818	chr14:31424975-31424976	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542769212	chr14:31424980-31424981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181572551	chr14:31425023-31425024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114893902	chr14:31425062-31425063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543700323	chr14:31425077-31425078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373073917	chr14:31425165-31425166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377247724	chr14:31425205-31425206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565201128	chr14:31425234-31425235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532670026	chr14:31425246-31425247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546962009	chr14:31425250-31425251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55822712	chr14:31425255-31425256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55995202	chr14:31425256-31425257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532276230	chr14:31425284-31425285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370471369	chr14:31425303-31425304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565556809	chr14:31425304-31425305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529779974	chr14:31425320-31425321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138266405	chr14:31425425-31425426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149617038	chr14:31425429-31425430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12886419	chr14:31425437-31425438	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs200133118	chr14:31425444-31425445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557371209	chr14:31425448-31425449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17097614	chr14:31425457-31425458	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs374491299	chr14:31425477-31425478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143268659	chr14:31425490-31425491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151180586	chr14:31425497-31425498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534936211	chr14:31425499-31425500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555063634	chr14:31425519-31425520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554172723	chr14:31425522-31425523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75361809	chr14:31425563-31425564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536749726	chr14:31425597-31425598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371327479	chr14:31425659-31425660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554808440	chr14:31425676-31425677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149919370	chr14:31425712-31425713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185099916	chr14:31425738-31425739	Weak transcription Strong 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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
3	chr14:31360200-31435600	Weak transcription	Gastric	stomach
4	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
5	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
7	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
8	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
10	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
11	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:31396600-31429600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31398400-31426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:31400200-31425600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:31408000-31425400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:31408000-31425800	Strong transcription	Dnd41	blood
19	chr14:31409200-31425000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:31410000-31425600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:31410000-31425600	Strong transcription	Fetal Intestine Large	intestine
22	chr14:31410200-31425600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:31410200-31425800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:31411200-31425200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:31411200-31425600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:31411400-31425400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:31411600-31425200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:31411600-31425800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:31411800-31425400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr14:31411800-31425400	Strong transcription	Liver	Liver
32	chr14:31411800-31425600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:31412400-31425600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:31412600-31424800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:31413200-31425600	Strong transcription	HepG2	liver
36	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:31414800-31434200	Weak transcription	Fetal Kidney	kidney
38	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:31415400-31426000	Weak transcription	Colon Smooth Muscle	Colon
40	chr14:31415800-31428000	Weak transcription	Brain Germinal Matrix	brain
41	chr14:31415800-31429200	Weak transcription	Lung	lung
42	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:31416000-31428200	Weak transcription	Pancreas	Pancrea
44	chr14:31416000-31429200	Weak transcription	Brain Anterior Caudate	brain
45	chr14:31416000-31433000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
47	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:31416000-31435600	Weak transcription	NHLF	lung
50	chr14:31416200-31433600	Weak transcription	Fetal Brain Female	brain

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