Variant report

Variant	nsv901853
Chromosome Location	chr14:46361884-46416993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:46375372-46375853	GM12878	blood:	n/a	n/a
2	BATF	chr14:46375483-46375752	GM12878	blood:	n/a	n/a
3	BATF	chr14:46368023-46368235	GM12878	blood:	n/a	n/a
4	BATF	chr14:46375489-46375749	GM12878	blood:	n/a	n/a
5	BCL11A	chr14:46375429-46375807	GM12878	blood:	n/a	n/a
6	CEBPB	chr14:46388540-46388874	HepG2	liver:	n/a	chr14:46388709-46388720
7	CEBPB	chr14:46388507-46388949	MCF-7	breast:	n/a	chr14:46388709-46388720
8	CEBPB	chr14:46388459-46388948	MCF-7	breast:	n/a	chr14:46388709-46388720
9	CEBPB	chr14:46388540-46388897	IMR90	lung:	n/a	chr14:46388709-46388720
10	CEBPB	chr14:46388556-46388893	A549	lung:	n/a	chr14:46388709-46388720
11	CTCF	chr14:46409708-46409768	GM13977	blood:	n/a	n/a
12	CTCF	chr14:46409900-46410050	GM06990	blood:	n/a	n/a
13	CTCF	chr14:46403102-46403173	GM10248	blood:	n/a	n/a
14	CTCF	chr14:46409506-46409974	MCF-7	breast:	n/a	n/a
15	CTCF	chr14:46409660-46409810	HMEC	breast:	n/a	n/a
16	CTCF	chr14:46409488-46409958	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:46407820-46407856	GM20000	blood:	n/a	n/a
18	CTCF	chr14:46409620-46409770	GM12873	blood:	n/a	n/a
19	CTCF	chr14:46409548-46409913	GM12878	blood:	n/a	n/a
20	CTCF	chr14:46409440-46409590	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:46409667-46409774	GM12878	blood:	n/a	n/a
22	CTCF	chr14:46409700-46409850	HMEC	breast:	n/a	n/a
23	CTCF	chr14:46409660-46409910	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr14:46409620-46409770	BE2_C	brain:	n/a	n/a
25	CTCF	chr14:46399900-46399971	GM13976	blood:	n/a	n/a
26	CTCF	chr14:46409714-46409755	GM10248	blood:	n/a	n/a
27	CTCF	chr14:46409740-46409890	RPTEC	kidney:	n/a	n/a
28	CTCF	chr14:46409769-46409786	GM13977	blood:	n/a	n/a
29	CTCF	chr14:46409600-46409750	HEEpiC	esophagus:	n/a	n/a
30	CUX1	chr14:46375590-46375773	GM12878	blood:	n/a	n/a
31	EBF1	chr14:46375110-46375209	GM12878	blood:	n/a	n/a
32	EBF1	chr14:46383969-46384317	GM12878	blood:	n/a	chr14:46384162-46384173 chr14:46384142-46384153
33	EBF1	chr14:46375547-46375694	GM12878	blood:	n/a	n/a
34	EP300	chr14:46375540-46375766	GM12878	blood:	n/a	n/a
35	EP300	chr14:46375488-46375705	GM12878	blood:	n/a	n/a
36	EP300	chr14:46389165-46389779	T-47D	breast:	n/a	chr14:46389587-46389596
37	EP300	chr14:46389174-46389659	T-47D	breast:	n/a	chr14:46389587-46389596
38	EP300	chr14:46361830-46362114	MCF-7	breast:	n/a	n/a
39	ESR1	chr14:46373986-46374248	T-47D	breast:	n/a	chr14:46374184-46374201
40	ESR1	chr14:46361656-46362165	T-47D	breast:	n/a	n/a
41	ESR1	chr14:46389205-46389741	T-47D	breast:	n/a	n/a
42	ESR1	chr14:46373988-46374311	T-47D	breast:	n/a	chr14:46374184-46374201
43	ESR1	chr14:46361719-46362207	T-47D	breast:	n/a	n/a
44	ESR1	chr14:46361713-46362142	T-47D	breast:	n/a	n/a
45	ESR1	chr14:46361793-46362114	ECC-1	luminal epithelium:	n/a	n/a
46	ESR1	chr14:46389188-46389664	T-47D	breast:	n/a	n/a
47	ESR1	chr14:46389181-46389652	T-47D	breast:	n/a	n/a
48	ESR1	chr14:46374002-46374290	T-47D	breast:	n/a	chr14:46374184-46374201
49	ESR1	chr14:46361760-46362158	T-47D	breast:	n/a	n/a
50	ESR1	chr14:46361675-46362185	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:46368837..46370409-chr14:46372784..46375382,2	K562	blood:
2	chr14:46308036..46308555-chr14:46409283..46409960,2	MCF-7	breast:
3	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:
4	chr14:46375125..46377270-chr14:46379726..46383333,3	K562	blood:
5	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:
6	chr14:46375125..46377270-chr14:46379726..46383333,3	K562	blood:
7	chr14:46368837..46370409-chr14:46372784..46375382,2	K562	blood:
8	chr12:122908054..122908892-chr14:46408991..46409734,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46410146-46410221	ENSG00000258700
2	lnc-FANCM-9	chr14:46376825-46376872	NONHSAT036675

No data

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 907 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs379548	chr14:46361884-46361885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12893539	chr14:46361904-46361905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187307830	chr14:46361917-46361918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192102972	chr14:46361947-46361948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142942776	chr14:46361951-46361952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566731533	chr14:46361959-46361960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183064021	chr14:46361962-46361963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558486698	chr14:46361966-46361967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186053062	chr14:46361976-46361977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12897746	chr14:46361977-46361978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537984450	chr14:46361996-46361997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540449626	chr14:46362036-46362037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369114216	chr14:46362052-46362053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556269648	chr14:46362064-46362065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575941090	chr14:46362109-46362110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs419989	chr14:46362154-46362155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146100711	chr14:46362191-46362192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573438787	chr14:46362218-46362219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528690407	chr14:46362221-46362222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540279810	chr14:46362255-46362256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564980890	chr14:46362263-46362264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs428176	chr14:46362304-46362305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372013605	chr14:46362316-46362317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544329725	chr14:46362326-46362327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs440821	chr14:46362355-46362356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566400525	chr14:46362366-46362367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529864067	chr14:46362402-46362403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190430849	chr14:46362407-46362408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139801302	chr14:46362434-46362435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200269810	chr14:46362436-46362437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201415323	chr14:46362437-46362438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199815188	chr14:46362438-46362439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182595141	chr14:46362509-46362510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186916312	chr14:46362510-46362511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563290823	chr14:46362515-46362516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532095930	chr14:46362521-46362522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140063206	chr14:46362535-46362536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs389634	chr14:46362556-46362557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534561428	chr14:46362592-46362593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370608908	chr14:46362609-46362610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192373677	chr14:46362691-46362692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536452886	chr14:46362701-46362702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555107225	chr14:46362823-46362824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs381435	chr14:46362877-46362878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540970018	chr14:46362917-46362918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199698973	chr14:46362924-46362925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546312707	chr14:46362931-46362932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144656967	chr14:46362945-46362946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182694630	chr14:46362959-46362960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577184280	chr14:46362960-46362961	Weak transcription 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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46360200-46362200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:46360600-46363200	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:46361400-46362200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr14:46361400-46362400	Enhancers	Colon Smooth Muscle	Colon
5	chr14:46361400-46362400	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr14:46361600-46366200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:46361800-46362200	Weak transcription	Fetal Kidney	kidney
8	chr14:46361800-46369000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:46362200-46362600	Enhancers	Fetal Kidney	kidney
10	chr14:46362400-46365200	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:46363200-46363600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:46363600-46363800	Enhancers	Rectal Smooth Muscle	rectum
13	chr14:46363800-46365800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:46365200-46367600	Enhancers	Colon Smooth Muscle	Colon
15	chr14:46365800-46366800	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:46366200-46366800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:46366600-46367000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:46366800-46368800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:46367600-46369000	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:46368800-46371600	Enhancers	Rectal Smooth Muscle	rectum
21	chr14:46369000-46369200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:46369000-46370000	Enhancers	Colon Smooth Muscle	Colon
23	chr14:46370000-46370800	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:46370800-46372000	Enhancers	Colon Smooth Muscle	Colon
25	chr14:46371400-46371600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr14:46372000-46373000	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:46373000-46373200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:46373000-46373200	Enhancers	Colon Smooth Muscle	Colon
29	chr14:46373200-46373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:46373800-46374600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:46375000-46376400	Enhancers	GM12878-XiMat	blood
32	chr14:46375200-46376000	Enhancers	NHEK	skin
33	chr14:46385400-46386200	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:46385600-46385800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:46385800-46388600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:46388600-46390200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:46389000-46389800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:46389000-46390000	Enhancers	HMEC	breast
39	chr14:46389200-46390000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:46389200-46390000	Enhancers	NHEK	skin
41	chr14:46403800-46404400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:46415200-46416800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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