Variant report

Variant	nsv542083
Chromosome Location	chr14:45940562-46201777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1037)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:46031267-46031422	MCF-7	breast:	n/a	chr14:46031347-46031358
2	CEBPB	chr14:46031190-46031458	HepG2	liver:	n/a	chr14:46031347-46031358
3	CEBPB	chr14:46134262-46134552	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr14:46055949-46056230	HepG2	liver:	n/a	chr14:46056048-46056059
5	CEBPB	chr14:46170313-46170577	HepG2	liver:	n/a	chr14:46170421-46170432
6	CEBPB	chr14:45990474-45990674	IMR90	lung:	n/a	chr14:45990587-45990604
7	CEBPB	chr14:46195157-46195161	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr14:46000477-46000804	HepG2	liver:	n/a	chr14:46000620-46000631
9	CEBPB	chr14:46094194-46094315	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr14:46134164-46134582	MCF-7	breast:	n/a	n/a
11	CHD2	chr14:45996268-45996394	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr14:46020613-46020614	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:46134300-46134450	HA-sp	spinal cord:	n/a	n/a
14	CTCF	chr14:46134240-46134390	GM12875	blood:	n/a	n/a
15	CTCF	chr14:46134315-46134412	LNCaP	prostate:	n/a	n/a
16	CTCF	chr14:46020304-46020379	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:46020320-46020407	LNCaP	prostate:	n/a	n/a
18	CTCF	chr14:45996580-45996730	BE2_C	brain:	n/a	n/a
19	CTCF	chr14:46119986-46120322	GM12878	blood:	n/a	n/a
20	CTCF	chr14:46185901-46185985	GM12891	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
21	CTCF	chr14:46134340-46134490	GM12865	blood:	n/a	n/a
22	CTCF	chr14:46185860-46186010	HCFaa	heart:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
23	CTCF	chr14:45996600-45996750	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr14:46134300-46134450	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr14:46147380-46147530	AG04449	skin:	n/a	n/a
26	CTCF	chr14:46055860-46056010	WI-38	lung:	n/a	n/a
27	CTCF	chr14:46185841-46186048	MCF-7	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
28	CTCF	chr14:46134280-46134430	HAc	cerebellar:	n/a	n/a
29	CTCF	chr14:46120145-46120178	Medullo	brain:	n/a	n/a
30	CTCF	chr14:46134320-46134470	HL-60	blood:	n/a	n/a
31	CTCF	chr14:46185912-46185976	K562	blood:	n/a	n/a
32	CTCF	chr14:46134260-46134410	GM12866	blood:	n/a	n/a
33	CTCF	chr14:45996600-45996750	Caco-2	colon:	n/a	n/a
34	CTCF	chr14:45996632-45996765	GM13976	blood:	n/a	n/a
35	CTCF	chr14:46185859-46186031	H1-hESC	embryonic stem cell:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
36	CTCF	chr14:46188000-46188150	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr14:46134277-46134471	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr14:46188077-46188135	ProgFib	skin:	n/a	n/a
39	CTCF	chr14:46185860-46186010	HMF	breast:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
40	CTCF	chr14:46185860-46186010	BE2_C	brain:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
41	CTCF	chr14:46147580-46147730	HFF	foreskin:	n/a	n/a
42	CTCF	chr14:46134300-46134450	GM12875	blood:	n/a	n/a
43	CTCF	chr14:46188001-46188103	NHEK	skin:	n/a	n/a
44	CTCF	chr14:46134260-46134410	GM12871	blood:	n/a	n/a
45	CTCF	chr14:46187960-46188110	MCF-7	breast:	n/a	n/a
46	CTCF	chr14:46134260-46134410	RPTEC	kidney:	n/a	n/a
47	CTCF	chr14:46041020-46041170	MCF-7	breast:	n/a	n/a
48	CTCF	chr14:46185810-46186041	Gliobla	brain:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
49	CTCF	chr14:46185860-46186010	GM12864	blood:	n/a	chr14:46185903-46185921 chr14:46185906-46185915
50	CTCF	chr14:46079580-46079730	HCPEpiC	choroid plexus:	n/a	chr14:46079677-46079690 chr14:46079676-46079697 chr14:46079674-46079692

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:46185447..46186022-chr14:46279860..46280372,3	MCF-7	breast:
2	chr14:46120979..46122575-chr14:46124329..46126907,2	K562	blood:
3	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
4	chr14:46079191..46080200-chr14:46279301..46280311,3	MCF-7	breast:
5	chr14:46090382..46092001-chr17:58682515..58685367,2	MCF-7	breast:
6	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:
7	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
8	chr14:46038732..46040536-chr14:46054530..46057374,2	K562	blood:
9	chr14:46038732..46040536-chr14:46054530..46057374,2	K562	blood:
10	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
11	chr14:46182590..46185086-chr14:46185381..46187428,2	MCF-7	breast:
12	chr14:46147376..46147982-chr14:46279500..46280082,2	MCF-7	breast:
13	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
14	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
15	chr14:46139668..46140618-chr4:151721697..151722558,2	MCF-7	breast:
16	chr14:46147083..46148164-chr14:46409225..46410271,4	MCF-7	breast:
17	chr14:46119850..46120526-chr14:46279646..46280307,2	MCF-7	breast:
18	chr14:46120979..46122575-chr14:46124329..46126907,2	K562	blood:
19	chr14:46185495..46186349-chr14:46307923..46308469,2	MCF-7	breast:
20	chr14:45895702..45896616-chr14:45996086..45997189,11	MCF-7	breast:
21	chr10:29154738..29155346-chr14:46193775..46194564,2	MCF-7	breast:
22	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
23	chr14:46185365..46185918-chr14:46409681..46410218,2	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616
2	lnc-FANCM-4	chr14:46037729-46038272	ENSG00000258845
3	lnc-MIS18BP1-1	chr14:46183487-46183623	ENSG00000258616
4	lnc-MIS18BP1-1	chr14:46177058-46177101	NONHSAT036666
5	lnc-MIS18BP1-1	chr14:46184553-46185155	ENSG00000258616
6	lnc-MIS18BP1-1	chr14:46184553-46185084	NONHSAT036669
7	lnc-MIS18BP1-1	chr14:46175453-46175705	ENSG00000258616
8	lnc-MIS18BP1-1	chr14:46177039-46177101	ENSG00000258616
9	lnc-FANCM-5	chr14:46179124-46179145	NONHSAT036668
10	lnc-FANCM-4	chr14:46037198-46037298	ENSG00000258845
11	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616
12	lnc-MIS18BP1-1	chr14:46183506-46183653	NONHSAT036669
13	lnc-MIS18BP1-1	chr14:46181102-46181226	XLOC_011012
14	lnc-MIS18BP1-1	chr14:46184553-46184690	ENSG00000258616
15	lnc-MIS18BP1-1	chr14:46181102-46181156	ENSG00000258616
16	lnc-MIS18BP1-1	chr14:46184553-46185114	NONHSAT036666
17	lnc-MIS18BP1-1	chr14:46183487-46183656	ENSG00000258616
18	lnc-MIS18BP1-1	chr14:46175495-46175705	XLOC_011012
19	lnc-MIS18BP1-1	chr14:46183487-46183634	ENSG00000258616
20	lnc-MIS18BP1-1	chr14:46181102-46181156	ENSG00000258616
21	lnc-MIS18BP1-1	chr14:46175475-46175705	ENSG00000258616
22	lnc-MIS18BP1-1	chr14:46175463-46175705	ENSG00000258616
23	lnc-FANCM-5	chr14:46195358-46195474	NONHSAT036670
24	lnc-MIS18BP1-1	chr14:46184553-46184894	ENSG00000258616

No data

Variant related genes	Relation type
ENSG00000258746	TF binding region
ENSG00000258616	TF binding region
ENSG00000258845	TF binding region
ENSG00000258700	chromatin interactions
ENSG00000258616	chromatin interactions
CNOT6L	miRNA target sites
IGF2BP3	miRNA target sites

Extended variants
information (count: 3658 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3658 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201689585	chr14:45951604-45951605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs376318956	chr14:45951663-45951664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12895245	chr14:45951737-45951738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576723869	chr14:45951776-45951777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543857824	chr14:45951790-45951791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556162933	chr14:45951857-45951858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374002458	chr14:45951888-45951889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112401822	chr14:45951949-45951950	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12895732	chr14:45951952-45951953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541972737	chr14:45952002-45952003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561437386	chr14:45952008-45952009	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573492896	chr14:45952011-45952012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565696830	chr14:45952042-45952043	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565442492	chr14:45952043-45952044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532888405	chr14:45952051-45952052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145438097	chr14:45952065-45952066	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562938439	chr14:45952077-45952078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548575259	chr14:45952078-45952079	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530114702	chr14:45952086-45952087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548299532	chr14:45952092-45952093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182774266	chr14:45952114-45952115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs566288429	chr14:45952115-45952116	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533739478	chr14:45952141-45952142	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552391708	chr14:45952148-45952149	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs367883747	chr14:45952191-45952192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558019144	chr14:45960818-45960819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142788652	chr14:45960851-45960852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76539271	chr14:45960949-45960950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561677589	chr14:45960968-45960969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578252666	chr14:45960980-45960981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528890445	chr14:45961019-45961020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541059848	chr14:45961020-45961021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540876041	chr14:45961038-45961039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560541998	chr14:45961039-45961040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367715896	chr14:45961063-45961064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559017874	chr14:45961114-45961115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143402753	chr14:45961116-45961117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151025996	chr14:45961132-45961133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552335223	chr14:45961161-45961162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570736156	chr14:45961195-45961196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531986828	chr14:45961316-45961317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550218786	chr14:45961318-45961319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568777105	chr14:45961324-45961325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535479163	chr14:45961325-45961326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554238076	chr14:45961332-45961333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566164711	chr14:45961346-45961347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74044160	chr14:45961374-45961375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557955152	chr14:45961379-45961380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140937596	chr14:45961380-45961381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150369676	chr14:45961404-45961405	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45951600-45952200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr14:45960800-45962000	Enhancers	Liver	Liver
3	chr14:45961000-45962800	Enhancers	Pancreas	Pancrea
4	chr14:45961800-45962600	Enhancers	Left Ventricle	heart
5	chr14:45962000-45962600	Enhancers	Right Atrium	heart
6	chr14:45962200-45962600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:45962200-45962600	Enhancers	Gastric	stomach
8	chr14:45962600-45965000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:45965000-45965200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr14:45965000-45966200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:45966200-45973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:45972800-45973200	Enhancers	Liver	Liver
13	chr14:45973000-45973200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:45983800-45984200	Enhancers	Colon Smooth Muscle	Colon
15	chr14:45995800-45996600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr14:45995800-45996800	Enhancers	Stomach Mucosa	stomach
17	chr14:45996000-45996200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:45996000-45996200	Enhancers	Adipose Nuclei	Adipose
19	chr14:45996000-45996200	Enhancers	Hela-S3	cervix
20	chr14:45996000-45996400	Enhancers	Gastric	stomach
21	chr14:45996000-45996400	Enhancers	Psoas Muscle	Psoas
22	chr14:45996000-45996600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:45996000-45996600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:45996000-45996600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:45996000-45996600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:45996000-45996600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:45996000-45996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:45996000-45996600	Enhancers	Pancreas	Pancrea
29	chr14:45996000-45996600	Enhancers	HMEC	breast
30	chr14:45996200-45996400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr14:45996200-45996400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr14:45996200-45996400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:45996200-45996400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr14:45996200-45996600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr14:45996200-45996600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr14:45996200-45996600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:45996200-45996600	Enhancers	Left Ventricle	heart
38	chr14:45996200-45996600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:45996200-45996600	Flanking Active TSS	Hela-S3	cervix
40	chr14:45996400-45996600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:45996400-45996600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:45996400-45996600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:45996400-45996600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:45996400-45996600	Active TSS	Adipose Nuclei	Adipose
45	chr14:45996600-45997000	Enhancers	Hela-S3	cervix
46	chr14:46006600-46008000	Enhancers	Colon Smooth Muscle	Colon
47	chr14:46007000-46008000	Enhancers	Rectal Smooth Muscle	rectum
48	chr14:46013800-46014200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:46020200-46021000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr14:46020200-46021000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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