Variant report

Variant	nsv901872
Chromosome Location	chr14:46933384-47006889
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	chr14:46959424-46959778	HepG2	liver:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
3	CEBPB	chr14:46959392-46959846	MCF-7	breast:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
4	CEBPB	chr14:46959344-46959844	MCF-7	breast:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
5	CEBPB	chr14:46944327-46944520	HepG2	liver:	n/a	chr14:46944345-46944356
6	CEBPB	chr14:46957289-46957481	HepG2	liver:	n/a	chr14:46957452-46957465 chr14:46957352-46957363 chr14:46957351-46957364
7	CEBPB	chr14:46959438-46959906	H1-hESC	embryonic stem cell:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
8	CEBPB	chr14:46959463-46959768	A549	lung:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
9	CTCF	chr14:47003580-47003730	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr14:46959740-46959890	RPTEC	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
11	CTCF	chr14:46959720-46959870	NB4	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
12	CTCF	chr14:46959780-46959930	A549	lung:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
13	CTCF	chr14:46959740-46959890	Caco-2	colon:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
14	CTCF	chr14:46933940-46934090	AG10803	skin:	n/a	n/a
15	CTCF	chr14:46959699-46959924	GM13977	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
16	CTCF	chr14:46959720-46959870	HRE	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
17	CTCF	chr14:47003710-47003796	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:46959800-46959950	HEK293	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
19	CTCF	chr14:46959740-46959890	HEEpiC	esophagus:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
20	CTCF	chr14:46959740-46959868	GM10248	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
21	CTCF	chr14:46959680-46959830	NHEK	skin:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
22	CTCF	chr14:46959740-46959890	GM06990	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
23	CTCF	chr14:46959700-46959850	GM12871	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
24	CTCF	chr14:46959739-46959899	Pancreas_OC	pancreas:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
25	CTCF	chr14:46959760-46959910	HCT-116	colon:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
26	CTCF	chr14:46959780-46959930	GM12872	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
27	CTCF	chr14:46959780-46959930	GM12865	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
28	CTCF	chr14:46959720-46959870	GM12878	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
29	CTCF	chr14:46959740-46959890	GM12864	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
30	CTCF	chr14:46959740-46959890	GM12875	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
31	CTCF	chr14:46959695-46959924	GM12878	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
32	CTCF	chr14:46959661-46959891	SK-N-SH_RA	brain:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
33	CTCF	chr14:46959680-46959830	HMF	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
34	CTCF	chr14:46959720-46959870	GM12871	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
35	CTCF	chr14:47003620-47003770	BE2_C	brain:	n/a	n/a
36	CTCF	chr14:46959700-46959850	HCM	heart:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
37	CTCF	chr14:46959777-46959847	Hela-S3	cervix:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
38	CTCF	chr14:46959718-46959872	GM13976	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
39	CTCF	chr14:46959800-46959950	WERI-Rb-1	eye:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
40	CTCF	chr14:47003720-47003870	HEK293	kidney:	n/a	n/a
41	CTCF	chr14:46959700-46959850	GM12873	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
42	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
43	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
44	CTCF	chr14:46959447-46959514	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr14:46959720-46959870	NHEK	skin:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
46	CTCF	chr14:46959740-46959890	HBMEC	blood vessel:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
47	CTCF	chr14:46959680-46959830	GM12872	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
48	CTCF	chr14:46959740-46959890	HUVEC	blood vessel:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
49	CTCF	chr14:46959720-46959870	GM06990	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
50	CTCF	chr14:46959758-46959857	GM10266	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834

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	chr14:46970510-46970814	ENSG00000258700
2	lnc-FANCM-6	chr14:46959395-46959490	ENSG00000258700
3	lnc-FANCM-6	chr14:46940562-46940714	NONHSAT036680
4	lnc-FANCM-6	chr14:46959395-46959490	NONHSAT036681
5	lnc-FANCM-6	chr14:46970510-46970814	ENSG00000258700
6	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036681
7	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036679
8	lnc-FANCM-6	chr14:46940564-46940714	ENSG00000258700
9	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036680
10	lnc-FANCM-6	chr14:46940562-46940714	NONHSAT036681
11	lnc-FANCM-6	chr14:46970510-46971026	ENSG00000258700
12	lnc-FANCM-6	chr14:46940562-46940714	ENSG00000258700
13	lnc-FANCM-6	chr14:46970510-46971104	NONHSAT036678

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 1092 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1092 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7156466	chr14:46933384-46933385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567528511	chr14:46933456-46933457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376276130	chr14:46933457-46933458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534646840	chr14:46933480-46933481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533745049	chr14:46933510-46933511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192019120	chr14:46933520-46933521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138547716	chr14:46933586-46933587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528742969	chr14:46933684-46933685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370110088	chr14:46933691-46933692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556985796	chr14:46933697-46933698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575280296	chr14:46933706-46933707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184976191	chr14:46933775-46933776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368413037	chr14:46933834-46933835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554318333	chr14:46933879-46933880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574269797	chr14:46933907-46933908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541702770	chr14:46933950-46933951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560089290	chr14:46933951-46933952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs578194868	chr14:46934000-46934001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545631832	chr14:46934041-46934042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374127559	chr14:46934085-46934086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562114634	chr14:46934097-46934098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143819319	chr14:46934166-46934167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556568609	chr14:46936877-46936878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185110594	chr14:46938308-46938309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540729463	chr14:46938339-46938340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs188421863	chr14:46938877-46938878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs563906678	chr14:46938879-46938880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs568562781	chr14:46938889-46938890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540050795	chr14:46938956-46938957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568535386	chr14:46939952-46939953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs2817569	chr14:46939964-46939965	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs549544908	chr14:46939983-46939984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs58023656	chr14:46939985-46939986	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552616397	chr14:46940020-46940021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs577352916	chr14:46940024-46940025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs57658182	chr14:46940050-46940051	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556722569	chr14:46940062-46940063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs575203902	chr14:46940095-46940096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs543709295	chr14:46940105-46940106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs139690498	chr14:46940109-46940110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs574248673	chr14:46940132-46940133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs12882336	chr14:46940148-46940149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541676482	chr14:46940151-46940152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs71418111	chr14:46940155-46940156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs559860446	chr14:46940194-46940195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533314281	chr14:46940201-46940202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs575866280	chr14:46940602-46940603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs534494245	chr14:46940624-46940625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs182159931	chr14:46940625-46940626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs1955262	chr14:46940639-46940640	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46927800-46934200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:46941400-46941800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:46949600-46954000	Enhancers	Liver	Liver
4	chr14:46954000-46955800	Weak transcription	Liver	Liver
5	chr14:46955600-46958200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:46955800-46958600	Enhancers	Liver	Liver
7	chr14:46956400-46957400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:46956600-46957000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:46956800-46957200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:46958600-46959600	Weak transcription	Liver	Liver
11	chr14:46959200-46959400	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:46959200-46960000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:46959400-46959600	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr14:46959400-46959800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:46959400-46959800	Active TSS	Duodenum Mucosa	Duodenum
16	chr14:46959400-46959800	Active TSS	GM12878-XiMat	blood
17	chr14:46959400-46960000	Active TSS	Primary hematopoietic stem cells	blood
18	chr14:46959400-46960000	Active TSS	Fetal Intestine Small	intestine
19	chr14:46959600-46959800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr14:46959600-46960000	Enhancers	Liver	Liver
21	chr14:46959600-46960000	Active TSS	Fetal Intestine Large	intestine
22	chr14:46959800-46960200	Enhancers	GM12878-XiMat	blood
23	chr14:46960000-46960200	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr14:46960000-46962800	Weak transcription	Liver	Liver
25	chr14:46963000-46963200	Enhancers	Liver	Liver
26	chr14:46965000-46972000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:46968400-46972200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:46968600-46969000	Enhancers	Colon Smooth Muscle	Colon
29	chr14:46969000-46970200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:46970200-46971000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:46971800-46972000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:46972000-46972200	Bivalent/Poised TSS	Small Intestine	intestine
33	chr14:46977800-46978200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:46984600-46984800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:46996800-46997400	Enhancers	Liver	Liver
36	chr14:46997400-46997800	Active TSS	Liver	Liver
37	chr14:47004000-47004600	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:47004400-47005000	Enhancers	Primary B cells from cord blood	blood
39	chr14:47005600-47006000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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