Variant report

Variant	nsv1051025
Chromosome Location	chr14:46935174-46996307
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	chr14:46959438-46959906	H1-hESC	embryonic stem cell:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
3	CEBPB	chr14:46959424-46959778	HepG2	liver:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
4	CEBPB	chr14:46957289-46957481	HepG2	liver:	n/a	chr14:46957452-46957465 chr14:46957352-46957363 chr14:46957351-46957364
5	CEBPB	chr14:46959344-46959844	MCF-7	breast:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
6	CEBPB	chr14:46959463-46959768	A549	lung:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
7	CEBPB	chr14:46959392-46959846	MCF-7	breast:	n/a	chr14:46959575-46959586 chr14:46959590-46959603
8	CEBPB	chr14:46944327-46944520	HepG2	liver:	n/a	chr14:46944345-46944356
9	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
10	CTCF	chr14:46959760-46959910	SAEC	small airway:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
11	CTCF	chr14:46959720-46959870	HRE	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
12	CTCF	chr14:46959695-46959924	GM12878	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
13	CTCF	chr14:46959720-46959870	NHEK	skin:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
14	CTCF	chr14:46959739-46959899	Pancreas_OC	pancreas:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
15	CTCF	chr14:46959720-46959870	HepG2	liver:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
16	CTCF	chr14:46959780-46959930	GM12869	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
17	CTCF	chr14:46959648-46959981	HepG2	liver:	n/a	chr14:46959657-46959664 chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
18	CTCF	chr14:46959720-46959870	HUVEC	blood vessel:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
19	CTCF	chr14:46959680-46959830	HMF	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
20	CTCF	chr14:46959699-46959924	GM13977	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
21	CTCF	chr14:46959740-46959890	HRPEpiC	eye:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
22	CTCF	chr14:46959690-46959923	Gliobla	brain:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
23	CTCF	chr14:46959720-46959870	GM12874	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
24	CTCF	chr14:46959720-46959870	GM12878	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
25	CTCF	chr14:46959740-46959890	GM12864	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
26	CTCF	chr14:46960040-46960190	GM12870	blood:	n/a	n/a
27	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
28	CTCF	chr14:46959680-46959830	NHEK	skin:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828
29	CTCF	chr14:46959780-46959930	BE2_C	brain:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
30	CTCF	chr14:46959740-46959890	RPTEC	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
31	CTCF	chr14:46959800-46959950	HMF	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
32	CTCF	chr14:46959720-46959870	HEEpiC	esophagus:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
33	CTCF	chr14:46959780-46959930	HA-sp	spinal cord:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
34	CTCF	chr14:46959700-46959850	HCM	heart:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
35	CTCF	chr14:46959718-46959872	GM13976	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
36	CTCF	chr14:46959800-46959950	RPTEC	kidney:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834 chr14:46959936-46959944
37	CTCF	chr14:46959740-46959890	GM06990	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
38	CTCF	chr14:46959740-46959868	GM10248	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
39	CTCF	chr14:46959700-46959850	HPAF	blood vessel:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
40	CTCF	chr14:46959740-46959890	HepG2	liver:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
41	CTCF	chr14:46959725-46959908	MCF-7	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
42	CTCF	chr14:46959720-46959870	GM12871	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
43	CTCF	chr14:46959760-46959910	GM12867	blood:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
44	CTCF	chr14:46959717-46959855	HepG2	liver:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
45	CTCF	chr14:46959780-46959930	MCF-7	breast:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
46	CTCF	chr14:46959735-46959916	LNCaP	prostate:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
47	CTCF	chr14:46959738-46959901	HepG2	liver:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
48	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
49	CTCF	chr14:46959700-46959850	Hela-S3	cervix:	n/a	chr14:46959811-46959829 chr14:46959814-46959827 chr14:46959812-46959828 chr14:46959813-46959834
50	CTCF	chr14:46959400-46959550	HMF	breast:	n/a	n/a

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

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 966 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:966 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556568609	chr14:46936877-46936878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185110594	chr14:46938308-46938309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs540729463	chr14:46938339-46938340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188421863	chr14:46938877-46938878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563906678	chr14:46938879-46938880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs568562781	chr14:46938889-46938890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540050795	chr14:46938956-46938957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568535386	chr14:46939952-46939953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2817569	chr14:46939964-46939965	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs549544908	chr14:46939983-46939984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs58023656	chr14:46939985-46939986	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552616397	chr14:46940020-46940021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs577352916	chr14:46940024-46940025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs57658182	chr14:46940050-46940051	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556722569	chr14:46940062-46940063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs575203902	chr14:46940095-46940096	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs543709295	chr14:46940105-46940106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139690498	chr14:46940109-46940110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574248673	chr14:46940132-46940133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs12882336	chr14:46940148-46940149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541676482	chr14:46940151-46940152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs71418111	chr14:46940155-46940156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559860446	chr14:46940194-46940195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533314281	chr14:46940201-46940202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs575866280	chr14:46940602-46940603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs534494245	chr14:46940624-46940625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs182159931	chr14:46940625-46940626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs1955262	chr14:46940639-46940640	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186751216	chr14:46941427-46941428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373681017	chr14:46941432-46941433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377627086	chr14:46941445-46941446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191653346	chr14:46941489-46941490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567953003	chr14:46941491-46941492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547842646	chr14:46941519-46941520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555152029	chr14:46941520-46941521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553633391	chr14:46941571-46941572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578091282	chr14:46941584-46941585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545599843	chr14:46941609-46941610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557161435	chr14:46941649-46941650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575721583	chr14:46941688-46941689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567919862	chr14:46941724-46941725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542609000	chr14:46941728-46941729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143343447	chr14:46941737-46941738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528470087	chr14:46941753-46941754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536825755	chr14:46941766-46941767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371366851	chr14:46941771-46941772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181320459	chr14:46941783-46941784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150219919	chr14:46949618-46949619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529690791	chr14:46949630-46949631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553909927	chr14:46949640-46949641	Enhancers	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:33 , 50 per page) page: 1

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

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