Variant report

Variant	nsv1040105
Chromosome Location	chr14:46921938-46998158
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	BCLAF1	chr14:46959550-46960028	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:46959463-46959768	A549	lung:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
3	CEBPB	chr14:46922132-46922270	HepG2	liver:	n/a	chr14:46922172-46922183
4	CEBPB	chr14:46957289-46957481	HepG2	liver:	n/a	chr14:46957452-46957465 chr14:46957352-46957363 chr14:46957351-46957364
5	CEBPB	chr14:46959424-46959778	HepG2	liver:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
6	CEBPB	chr14:46959392-46959846	MCF-7	breast:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
7	CEBPB	chr14:46959438-46959906	H1-hESC	embryonic stem cell:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
8	CEBPB	chr14:46959344-46959844	MCF-7	breast:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
9	CEBPB	chr14:46944327-46944520	HepG2	liver:	n/a	chr14:46944345-46944356
10	CTCF	chr14:46959760-46959910	HBMEC	blood vessel:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
11	CTCF	chr14:46959800-46959950	SK-N-SH_RA	brain:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
12	CTCF	chr14:46959601-46959970	H1-hESC	embryonic stem cell:	n/a	chr14:46959657-46959664 chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
13	CTCF	chr14:46959725-46959887	LNCaP	prostate:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
14	CTCF	chr14:46959680-46959830	HMF	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
15	CTCF	chr14:46959700-46959850	GM12873	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
16	CTCF	chr14:46959760-46959910	HCPEpiC	choroid plexus:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
17	CTCF	chr14:46959498-46960139	GM12878	blood:	n/a	chr14:46959657-46959664 chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
18	CTCF	chr14:46959760-46959910	GM12801	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
19	CTCF	chr14:46959690-46959923	Gliobla	brain:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
20	CTCF	chr14:46959754-46959837	Kidney_OC	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
21	CTCF	chr14:46959740-46959890	HEEpiC	esophagus:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
22	CTCF	chr14:46959740-46959890	Caco-2	colon:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
23	CTCF	chr14:46959680-46959830	GM12872	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
24	CTCF	chr14:46960040-46960190	BE2_C	brain:	n/a	n/a
25	CTCF	chr14:46959740-46959890	HBMEC	blood vessel:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
26	CTCF	chr14:46959740-46959890	RPTEC	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
27	CTCF	chr14:46959740-46959890	HepG2	liver:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
28	CTCF	chr14:46959760-46959910	SAEC	small airway:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
29	CTCF	chr14:46959725-46959908	MCF-7	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
30	CTCF	chr14:46959538-46960074	MCF-7	breast:	n/a	chr14:46959657-46959664 chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
31	CTCF	chr14:46959740-46959890	GM12875	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
32	CTCF	chr14:46959680-46959830	NHEK	skin:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
33	CTCF	chr14:46959780-46959930	GM12868	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
34	CTCF	chr14:46959720-46959870	NB4	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
35	CTCF	chr14:46959400-46959550	HMF	breast:	n/a	n/a
36	CTCF	chr14:46959760-46959910	GM12875	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
37	CTCF	chr14:46959780-46959930	HCT-116	colon:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
38	CTCF	chr14:46959700-46959850	WERI-Rb-1	eye:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
39	CTCF	chr14:46959720-46959870	HEEpiC	esophagus:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
40	CTCF	chr14:46959780-46959930	MCF-7	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
41	CTCF	chr14:46959720-46959870	HRE	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
42	CTCF	chr14:46959780-46959930	GM12872	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
43	CTCF	chr14:46959550-46960045	HCT-116	colon:	n/a	chr14:46959657-46959664 chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
44	CTCF	chr14:46959700-46959850	GM12871	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
45	CTCF	chr14:46959773-46959837	GM19240	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
46	CTCF	chr14:46959800-46959950	HEK293	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
47	CTCF	chr14:46959720-46959870	HA-sp	spinal cord:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
48	CTCF	chr14:46959740-46959890	HRE	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
49	CTCF	chr14:46959800-46959950	HMF	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
50	CTCF	chr14:46959800-46959950	RPTEC	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:46984156..46986673-chr14:46987478..46989928,2	K562	blood:
2	chr14:46984156..46986673-chr14:46987478..46989928,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036678
2	lnc-FANCM-6	chr14:46940562-46940714	NONHSAT036680
3	lnc-FANCM-6	chr14:46959395-46959490	ENSG00000258700
4	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036681
5	lnc-FANCM-6	chr14:46940562-46940714	NONHSAT036681
6	lnc-FANCM-6	chr14:46959395-46959490	NONHSAT036681
7	lnc-FANCM-6	chr14:46940562-46940714	ENSG00000258700
8	lnc-FANCM-6	chr14:46970510-46970814	ENSG00000258700
9	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036679
10	lnc-FANCM-6	chr14:46970510-46970814	ENSG00000258700
11	lnc-FANCM-6	chr14:46970510-46971026	ENSG00000258700
12	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036680
13	lnc-FANCM-6	chr14:46940564-46940714	ENSG00000258700

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 1232 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1232 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111439855	chr14:46927609-46927610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528453608	chr14:46927617-46927618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs74410004	chr14:46927619-46927620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191641228	chr14:46927637-46927638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116892680	chr14:46927675-46927676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556731309	chr14:46927691-46927692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568673389	chr14:46927708-46927709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536063327	chr14:46927760-46927761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371357279	chr14:46927772-46927773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569922277	chr14:46927786-46927787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554623821	chr14:46927836-46927837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77147441	chr14:46927914-46927915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182352853	chr14:46927960-46927961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112168222	chr14:46927974-46927975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545756608	chr14:46927994-46927995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138516837	chr14:46928045-46928046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376060010	chr14:46928091-46928092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377289858	chr14:46928192-46928193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574231779	chr14:46928239-46928240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542869383	chr14:46928260-46928261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561420182	chr14:46928261-46928262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528605669	chr14:46928276-46928277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546971066	chr14:46928283-46928284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571351382	chr14:46928297-46928298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532382850	chr14:46928349-46928350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1761028	chr14:46928366-46928367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568836085	chr14:46928403-46928404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536410757	chr14:46928417-46928418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543243830	chr14:46928432-46928433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541924332	chr14:46928434-46928435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117296204	chr14:46928498-46928499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533694177	chr14:46928508-46928509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533582880	chr14:46928531-46928532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34368760	chr14:46928532-46928533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576866949	chr14:46928547-46928548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573822987	chr14:46928625-46928626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537841495	chr14:46928637-46928638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557658816	chr14:46928662-46928663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575883732	chr14:46928673-46928674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12896786	chr14:46928692-46928693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187869263	chr14:46928693-46928694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375038067	chr14:46928713-46928714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147222007	chr14:46928714-46928715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58061552	chr14:46928720-46928721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573279111	chr14:46928722-46928723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56982811	chr14:46928797-46928798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192161199	chr14:46928798-46928799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185742035	chr14:46928799-46928800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565044814	chr14:46928811-46928812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190265361	chr14:46928834-46928835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46927600-46927800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:46927800-46934200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:46941400-46941800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:46949600-46954000	Enhancers	Liver	Liver
5	chr14:46954000-46955800	Weak transcription	Liver	Liver
6	chr14:46955600-46958200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:46955800-46958600	Enhancers	Liver	Liver
8	chr14:46956400-46957400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:46956600-46957000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:46956800-46957200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:46958600-46959600	Weak transcription	Liver	Liver
12	chr14:46959200-46959400	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:46959200-46960000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:46959400-46959600	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr14:46959400-46959800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:46959400-46959800	Active TSS	Duodenum Mucosa	Duodenum
17	chr14:46959400-46959800	Active TSS	GM12878-XiMat	blood
18	chr14:46959400-46960000	Active TSS	Primary hematopoietic stem cells	blood
19	chr14:46959400-46960000	Active TSS	Fetal Intestine Small	intestine
20	chr14:46959600-46959800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:46959600-46960000	Enhancers	Liver	Liver
22	chr14:46959600-46960000	Active TSS	Fetal Intestine Large	intestine
23	chr14:46959800-46960200	Enhancers	GM12878-XiMat	blood
24	chr14:46960000-46960200	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr14:46960000-46962800	Weak transcription	Liver	Liver
26	chr14:46963000-46963200	Enhancers	Liver	Liver
27	chr14:46965000-46972000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:46968400-46972200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:46968600-46969000	Enhancers	Colon Smooth Muscle	Colon
30	chr14:46969000-46970200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:46970200-46971000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:46971800-46972000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:46972000-46972200	Bivalent/Poised TSS	Small Intestine	intestine
34	chr14:46977800-46978200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:46984600-46984800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:46996800-46997400	Enhancers	Liver	Liver
37	chr14:46997400-46997800	Active TSS	Liver	Liver

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