Variant report

Variant	nsv564694
Chromosome Location	chr14:44950886-45006478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:122)
Chromatin interactive
region (count:13)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr14:44974131-44974349	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:44979960-44980146	K562	blood:	n/a	n/a
3	CEBPB	chr14:44991866-44992131	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:44957012-44957082	HepG2	liver:	n/a	chr14:44957022-44957033
5	CHD2	chr14:44979946-44980318	K562	blood:	n/a	n/a
6	CTCF	chr14:44974940-44975090	GM12870	blood:	n/a	n/a
7	CTCF	chr14:44974780-44975076	HepG2	liver:	n/a	n/a
8	CTCF	chr14:44974940-44975049	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr14:44974900-44975050	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:44974878-44975104	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:44974916-44975071	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:44985093-44985178	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:44974915-44975096	HepG2	liver:	n/a	n/a
14	CTCF	chr14:44974920-44975070	HepG2	liver:	n/a	n/a
15	CTCF	chr14:44974860-44975010	NB4	blood:	n/a	n/a
16	CTCF	chr14:44974776-44975167	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:44974983-44975010	GM13977	blood:	n/a	n/a
18	CTCF	chr14:44974920-44975070	MCF-7	breast:	n/a	n/a
19	CTCF	chr14:44974859-44975084	HepG2	liver:	n/a	n/a
20	CTCF	chr14:44974874-44975172	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:44974958-44975042	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:44974872-44975075	K562	blood:	n/a	n/a
23	CTCF	chr14:44974798-44975064	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr14:44975000-44975150	HCT-116	colon:	n/a	n/a
25	CTCF	chr14:44974963-44975049	K562	blood:	n/a	n/a
26	CTCF	chr14:44974880-44975030	K562	blood:	n/a	n/a
27	CTCF	chr14:44974915-44975059	LNCaP	prostate:	n/a	n/a
28	CTCF	chr14:44974960-44975110	HEK293	kidney:	n/a	n/a
29	CTCF	chr14:44974800-44974950	A549	lung:	n/a	n/a
30	CTCF	chr14:44974912-44975070	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:44974840-44974990	HL-60	blood:	n/a	n/a
32	CTCF	chr14:44986742-44986802	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr14:44974940-44975090	HCT-116	colon:	n/a	n/a
34	CTCF	chr14:44974919-44975036	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr14:44998260-44998410	AoAF	blood vessel:	n/a	n/a
36	CTCF	chr14:44974908-44975076	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:44975060-44975210	HVMF	connective:	n/a	n/a
38	CTCF	chr14:44974860-44975010	GM12873	blood:	n/a	n/a
39	CTCF	chr14:44974960-44975110	HepG2	liver:	n/a	n/a
40	CTCF	chr14:44974860-44975010	Hela-S3	cervix:	n/a	n/a
41	E2F4	chr14:44977781-44977959	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr14:44961055-44961255	MCF10A-Er-Src	breast:	n/a	n/a
43	EBF1	chr14:44966478-44966716	GM12878	blood:	n/a	n/a
44	EBF1	chr14:44966488-44966687	GM12878	blood:	n/a	n/a
45	EP300	chr14:45000862-45001287	SK-N-SH_RA	brain:	n/a	chr14:45001153-45001162
46	EP300	chr14:45000807-45001212	SK-N-SH_RA	brain:	n/a	chr14:45001153-45001162
47	FOS	chr14:44999702-45000050	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:44999819-45000001	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr14:44999773-45000031	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr14:44963443-44963671	MCF10A-Er-Src	breast:	n/a	chr14:44963550-44963558 chr14:44963550-44963559 chr14:44963551-44963558

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:44976233-44976283	SK-N-SH	brain:	n/a
2	chr14:44976233-44976283	AG04449	skin:	fetal
3	chr14:44976233-44976283	HMEC	breast:	n/a
4	chr14:44976233-44976283	AG10803	skin:	n/a
5	chr14:44976233-44976283	MCF-7	breast:	n/a
6	chr14:44976457-44976507	GM19239	blood:	n/a
7	chr14:44976457-44976507	GM12891	blood:	n/a
8	chr14:44976233-44976283	HRCEpiC	kidney:	n/a
9	chr14:44976233-44976283	HEK293	kidney:	embryo
10	chr14:44976233-44976283	LNCaP	prostate:	n/a
11	chr14:44976457-44976507	HEK293	kidney:	embryo
12	chr14:44976233-44976283	HCPEpiC	choroid plexus:	n/a
13	chr14:44976457-44976507	NHBE	bronchial:	n/a
14	chr14:44976457-44976507	MCF10A-Er-Src	breast:	n/a
15	chr14:44976233-44976283	H1-hESC	embryonic stem cell:	embryo
16	chr14:44976457-44976507	NHDF-neo	bronchial:	n/a
17	chr14:44976457-44976507	HCPEpiC	choroid plexus:	n/a
18	chr14:44976457-44976507	IMR90	lung:	fetal
19	chr14:44976233-44976283	PFSK-1	brain:	n/a
20	chr14:44976233-44976283	ECC-1	luminal epithelium:	n/a
21	chr14:44976233-44976283	SKMC	muscle:	n/a
22	chr14:44976233-44976283	HNPCEpiC	eye:	n/a
23	chr14:44976233-44976283	NT2-D1	testis:	n/a
24	chr14:44976457-44976507	BE2_C	brain:	n/a
25	chr14:44976233-44976283	HepG2	liver:	n/a
26	chr14:44976233-44976283	NHBE	bronchial:	n/a
27	chr14:44976457-44976507	Caco-2	colon:	n/a
28	chr14:44976233-44976283	HUVEC	blood vessel:	n/a
29	chr14:44976457-44976507	HIPEpiC	eye:	n/a
30	chr14:44976457-44976507	Hela-S3	cervix:	n/a
31	chr14:44976457-44976507	PANC-1	pancreas:	n/a
32	chr14:44976233-44976283	AG09319	gingival:	n/a
33	chr14:44976233-44976283	AG04450	lung:	fetal
34	chr14:44976233-44976283	MCF10A-Er-Src	breast:	n/a
35	chr14:44976457-44976507	NH-A	brain:	n/a
36	chr14:44976457-44976507	K562	blood:	n/a
37	chr14:44976457-44976507	HMEC	breast:	n/a
38	chr14:44976457-44976507	HUVEC	blood vessel:	n/a
39	chr14:44976233-44976283	Jurkat	blood:	n/a
40	chr14:44976457-44976507	T-47D	breast:	n/a
41	chr14:44976233-44976283	ProgFib	skin:	n/a
42	chr14:44976233-44976283	IMR90	lung:	fetal
43	chr14:44976233-44976283	HL-60	blood:	n/a
44	chr14:44976457-44976507	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:44976233-44976283	BE2_C	brain:	n/a
46	chr14:44976233-44976283	HCT-116	colon:	n/a
47	chr14:44976457-44976507	HL-60	blood:	n/a
48	chr14:44976457-44976507	U87	brain:	n/a
49	chr14:44976457-44976507	HCF	heart:	n/a
50	chr14:44976457-44976507	BJ	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44980118..44981638-chr17:41465259..41467724,2	MCF-7	breast:
2	chr14:44980119..44981639-chr17:41463633..41465366,4	MCF-7	breast:
3	chr14:44980119..44981640-chr17:41463656..41466583,4	K562	blood:
4	chr14:44978638..44981619-chrX:77931842..77933343,2	K562	blood:
5	chr14:44980139..44981640-chr17:41398653..41400867,3	K562	blood:
6	chr14:44972455..44975189-chr14:45002674..45004244,2	MCF-7	breast:
7	chr14:44972455..44975189-chr14:45002674..45004244,2	MCF-7	breast:
8	chr14:44980137..44981640-chr17:41380487..41382264,3	K562	blood:
9	chr14:44980118..44981640-chr17:41398653..41402673,7	K562	blood:
10	chr14:44980118..44981638-chr17:41380370..41382247,2	MCF-7	breast:
11	chr11:62607619..62609217-chr14:44980118..44981639,2	K562	blood:
12	chr14:44838612..44839205-chr14:44974588..44975472,2	MCF-7	breast:
13	chr14:44978619..44981639-chr17:41463816..41468065,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf28-1	chr14:44978206-44978434	ENSG00000258747.1
2	lnc-C14orf28-1	chr14:44976560-44976672	NONHSAT036614
3	lnc-C14orf28-1	chr14:44976610-44976672	ENSG00000258747.1
4	lnc-C14orf28-1	chr14:44978172-44978434	ENSG00000258747.1
5	lnc-C14orf28-1	chr14:44978530-44978686	ENSG00000258747.1
6	lnc-C14orf28-1	chr14:44977855-44977932	NONHSAT036614
7	lnc-C14orf28-1	chr14:44976612-44976672	ENSG00000258747.1
8	lnc-C14orf28-1	chr14:44977855-44977932	ENSG00000258747.1

No data

Variant related genes	Relation type
ENSG00000258747	TF binding region
FSCB	TF binding region
ENSG00000258487	TF binding region
ENSG00000258747	CpG island
FSCB	CpG island
ENSG00000258487	CpG island
ENSG00000236383	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 883 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566052515	chr14:44953824-44953825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533482763	chr14:44953895-44953896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs402001	chr14:44953933-44953934	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562612742	chr14:44959404-44959405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368512136	chr14:44959430-44959431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185955285	chr14:44959502-44959503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540688448	chr14:44959544-44959545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559154509	chr14:44959547-44959548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532939200	chr14:44959638-44959639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72687038	chr14:44959650-44959651	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182584808	chr14:44959657-44959658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530674997	chr14:44959658-44959659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567014416	chr14:44959664-44959665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550172488	chr14:44959699-44959700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35342111	chr14:44959702-44959703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147893956	chr14:44959722-44959723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535905715	chr14:44959729-44959730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187147004	chr14:44959734-44959735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529442078	chr14:44959747-44959748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565145168	chr14:44959760-44959761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547891036	chr14:44959761-44959762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566326040	chr14:44959824-44959825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540030490	chr14:44959861-44959862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112944559	chr14:44959869-44959870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182945537	chr14:44959885-44959886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141668971	chr14:44959889-44959890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147069418	chr14:44959911-44959912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398277	chr14:44959913-44959914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112456342	chr14:44959923-44959924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534439046	chr14:44959951-44959952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17115161	chr14:44959960-44959961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116074237	chr14:44959972-44959973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545197088	chr14:44959989-44959990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs438278	chr14:44960030-44960031	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575511778	chr14:44960035-44960036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17115165	chr14:44960047-44960048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562093367	chr14:44960076-44960077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17115167	chr14:44960099-44960100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73347017	chr14:44960139-44960140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141859788	chr14:44960256-44960257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76604517	chr14:44960262-44960263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543905302	chr14:44960267-44960268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563787140	chr14:44960268-44960269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551971346	chr14:44960282-44960283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570114853	chr14:44960306-44960307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537780416	chr14:44960344-44960345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17115169	chr14:44960376-44960377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113933976	chr14:44960377-44960378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566970152	chr14:44960428-44960429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534309615	chr14:44960450-44960451	Weak transcription	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
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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44959400-44960000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:44960000-44960400	Enhancers	Brain Angular Gyrus	brain
3	chr14:44960000-44962400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:44977200-44977400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:44993600-44994200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:44994200-44995800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:44995800-45000400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:44997600-45001200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:44997800-44998800	Enhancers	Brain Substantia Nigra	brain
10	chr14:44997800-44999800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:44998000-44998400	Enhancers	Fetal Heart	heart
12	chr14:44998000-44998600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:44998200-44999000	Enhancers	NHDF-Ad	bronchial
14	chr14:44998200-44999200	Enhancers	Brain Hippocampus Middle	brain
15	chr14:44998400-44999000	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:44998400-45004400	Weak transcription	Fetal Heart	heart
17	chr14:44998800-44999200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:45004400-45004600	Enhancers	Fetal Heart	heart

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