Variant report

Variant	nsv983821
Chromosome Location	chr14:47120439-47121203
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	CTCF	chr14:47121120-47121270	BE2_C	brain:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
2	CTCF	chr14:47121080-47121230	GM12865	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
3	CTCF	chr14:47121126-47121276	GM12891	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
4	CTCF	chr14:47121060-47121210	GM12871	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
5	CTCF	chr14:47121180-47121330	HFF-Myc	foreskin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
6	CTCF	chr14:47121160-47121310	Caco-2	colon:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
7	CTCF	chr14:47121043-47121293	K562	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
8	CTCF	chr14:47120860-47121010	HCT-116	colon:	n/a	n/a
9	CTCF	chr14:47121160-47121310	BE2_C	brain:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
10	CTCF	chr14:47121180-47121330	GM12875	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
11	CTCF	chr14:47121142-47121289	HepG2	liver:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
12	CTCF	chr14:47121186-47121276	GM20000	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
13	CTCF	chr14:47120959-47121340	K562	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
14	CTCF	chr14:47121120-47121270	WERI-Rb-1	eye:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
15	CTCF	chr14:47121140-47121290	NB4	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
16	CTCF	chr14:47121160-47121310	GM12868	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
17	CTCF	chr14:47121080-47121230	HEK293	kidney:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
18	CTCF	chr14:47121120-47121270	GM12864	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
19	CTCF	chr14:47121120-47121270	GM12867	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
20	CTCF	chr14:47121047-47121304	H1-hESC	embryonic stem cell:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
21	CTCF	chr14:47121160-47121310	GM12865	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
22	CTCF	chr14:47121042-47121322	GM12878	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
23	CTCF	chr14:47121160-47121310	GM12869	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
24	CTCF	chr14:47121080-47121230	SAEC	small airway:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
25	CTCF	chr14:47121120-47121270	AG09309	skin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
26	CTCF	chr14:47121094-47121325	H1-hESC	embryonic stem cell:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
27	CTCF	chr14:47121100-47121250	HAc	cerebellar:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
28	CTCF	chr14:47121100-47121250	GM12878	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
29	CTCF	chr14:47121100-47121250	GM12865	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
30	CTCF	chr14:47121100-47121250	GM12864	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
31	CTCF	chr14:47121180-47121330	HCT-116	colon:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
32	CTCF	chr14:47121089-47121283	MCF-7	breast:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
33	CTCF	chr14:47121171-47121252	Hela-S3	cervix:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
34	CTCF	chr14:47121089-47121298	MCF-7	breast:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
35	CTCF	chr14:47121120-47121270	SK-N-SH_RA	brain:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
36	CTCF	chr14:47121160-47121310	HBMEC	blood vessel:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
37	CTCF	chr14:47121080-47121230	MCF-7	breast:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
38	CTCF	chr14:47120925-47121399	A549	lung:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
39	CTCF	chr14:47121186-47121216	ProgFib	skin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
40	CTCF	chr14:47121140-47121290	A549	lung:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
41	CTCF	chr14:47121153-47121259	HUVEC	blood vessel:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
42	CTCF	chr14:47121080-47121230	Hela-S3	cervix:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
43	CTCF	chr14:47121059-47121353	LNCaP	prostate:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
44	CTCF	chr14:47121120-47121270	GM12874	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
45	CTCF	chr14:47121100-47121250	GM12873	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
46	CTCF	chr14:47121000-47121270	HFF-Myc	foreskin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
47	CTCF	chr14:47121202-47121221	NHEK	skin:	n/a	n/a
48	CTCF	chr14:47121159-47121229	GM12892	blood:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
49	CTCF	chr14:47121120-47121270	NHEK	skin:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206
50	CTCF	chr14:47121140-47121290	Caco-2	colon:	n/a	chr14:47121189-47121205 chr14:47121194-47121203 chr14:47121188-47121206

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47121033-47121083	NT2-D1	testis:	n/a
2	chr14:47121132-47121182	GM19239	blood:	n/a
3	chr14:47120795-47120845	GM12892	blood:	n/a
4	chr14:47121132-47121182	Jurkat	blood:	n/a
5	chr14:47120920-47120970	HCPEpiC	choroid plexus:	n/a
6	chr14:47121033-47121083	HCPEpiC	choroid plexus:	n/a
7	chr14:47121156-47121206	AG04450	lung:	fetal
8	chr14:47120845-47120895	U87	brain:	n/a
9	chr14:47121117-47121167	SK-N-SH_RA	brain:	n/a
10	chr14:47121158-47121208	HRE	kidney:	n/a
11	chr14:47120845-47120895	SAEC	small airway:	n/a
12	chr14:47121117-47121167	HPAEpiC	pulmonary alveolar:	n/a
13	chr14:47121156-47121206	U87	brain:	n/a
14	chr14:47120920-47120970	HRPEpiC	eye:	n/a
15	chr14:47121033-47121083	NHBE	bronchial:	n/a
16	chr14:47121158-47121208	A549	lung:	n/a
17	chr14:47121132-47121182	LNCaP	prostate:	n/a
18	chr14:47121117-47121167	U87	brain:	n/a
19	chr14:47121033-47121083	Hela-S3	cervix:	n/a
20	chr14:47120920-47120970	Hepatocyte	liver:	n/a
21	chr14:47120795-47120845	ECC-1	luminal epithelium:	n/a
22	chr14:47120507-47120557	SK-N-SH_RA	brain:	n/a
23	chr14:47121158-47121208	Caco-2	colon:	n/a
24	chr14:47120795-47120845	Hela-S3	cervix:	n/a
25	chr14:47121156-47121206	BJ	skin:	n/a
26	chr14:47121158-47121208	MCF10A-Er-Src	breast:	n/a
27	chr14:47120845-47120895	PANC-1	pancreas:	n/a
28	chr14:47121033-47121083	NHDF-neo	bronchial:	n/a
29	chr14:47121158-47121208	AoSMC	blood vessel:	n/a
30	chr14:47121002-47121052	HNPCEpiC	eye:	n/a
31	chr14:47120795-47120845	NB4	blood:	n/a
32	chr14:47121002-47121052	GM12891	blood:	n/a
33	chr14:47121132-47121182	CMK	blood:	n/a
34	chr14:47120507-47120557	HRE	kidney:	n/a
35	chr14:47121033-47121083	MCF-7	breast:	n/a
36	chr14:47121033-47121083	LNCaP	prostate:	n/a
37	chr14:47121033-47121083	HepG2	liver:	n/a
38	chr14:47121002-47121052	AoSMC	blood vessel:	n/a
39	chr14:47120795-47120845	AG04449	skin:	fetal
40	chr14:47121033-47121083	PFSK-1	brain:	n/a
41	chr14:47121033-47121083	GM12878	blood:	n/a
42	chr14:47121117-47121167	HRCEpiC	kidney:	n/a
43	chr14:47121002-47121052	Hepatocyte	liver:	n/a
44	chr14:47121033-47121083	U87	brain:	n/a
45	chr14:47121132-47121182	H1-hESC	embryonic stem cell:	embryo
46	chr14:47120845-47120895	BE2_C	brain:	n/a
47	chr14:47121002-47121052	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:47120795-47120845	SK-N-SH_RA	brain:	n/a
49	chr14:47121117-47121167	CMK	blood:	n/a
50	chr14:47120845-47120895	HCPEpiC	choroid plexus:	n/a

Variant related genes	Relation type
RPL10L	TF binding region
RPL10L	CpG island

Extended variants
information (count: 77 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145819448	chr14:47120458-47120459	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138881214	chr14:47120461-47120462	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199562673	chr14:47120483-47120484	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs267603992	chr14:47120492-47120493	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529671112	chr14:47120494-47120495	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200946521	chr14:47120513-47120514	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548202234	chr14:47120518-47120519	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141448209	chr14:47120520-47120521	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143533362	chr14:47120525-47120526	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202008170	chr14:47120530-47120531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528838816	chr14:47120535-47120536	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114329167	chr14:47120549-47120550	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369416807	chr14:47120554-47120555	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539186835	chr14:47120555-47120556	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199599984	chr14:47120557-47120558	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377499504	chr14:47120559-47120560	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369058257	chr14:47120586-47120587	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11557561	chr14:47120615-47120616	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373145679	chr14:47120631-47120632	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376124543	chr14:47120648-47120649	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145164509	chr14:47120652-47120653	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551111666	chr14:47120661-47120662	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181539648	chr14:47120671-47120672	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201166861	chr14:47120672-47120673	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200117471	chr14:47120678-47120679	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376230987	chr14:47120695-47120696	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201792426	chr14:47120701-47120702	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150636660	chr14:47120707-47120708	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201247193	chr14:47120725-47120726	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200453552	chr14:47120738-47120739	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370629655	chr14:47120760-47120761	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138905696	chr14:47120772-47120773	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142878688	chr14:47120781-47120782	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374055419	chr14:47120783-47120784	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367951246	chr14:47120788-47120789	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562526716	chr14:47120792-47120793	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117580686	chr14:47120811-47120812	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11557560	chr14:47120815-47120816	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374478904	chr14:47120838-47120839	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193920822	chr14:47120846-47120847	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141953926	chr14:47120870-47120871	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146301674	chr14:47120888-47120889	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368319202	chr14:47120892-47120893	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371627393	chr14:47120910-47120911	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560132354	chr14:47120911-47120912	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199519003	chr14:47120919-47120920	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202082945	chr14:47120934-47120935	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201456427	chr14:47120939-47120940	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189866041	chr14:47120950-47120951	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551186475	chr14:47120954-47120955	ZNF genes & repeats Weak transcription Strong 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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47111400-47123200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr14:47116400-47120600	Weak transcription	Fetal Intestine Small	intestine
3	chr14:47119400-47121200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr14:47120400-47120600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:47120600-47121400	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr14:47121200-47122600	Weak transcription	Rectal Mucosa Donor 31	rectum

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