Variant report

Variant	nsv901893
Chromosome Location	chr14:47633066-47715509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr14:47657519-47657543	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:47647084-47647297	A549	lung:	n/a	n/a
3	CEBPB	chr14:47649134-47649469	A549	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
4	CEBPB	chr14:47649136-47649487	HepG2	liver:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
5	CEBPB	chr14:47652631-47652824	HepG2	liver:	n/a	chr14:47652761-47652772
6	CEBPB	chr14:47670575-47670926	HepG2	liver:	n/a	chr14:47670750-47670761
7	CEBPB	chr14:47649198-47649493	ECC-1	luminal epithelium:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
8	CEBPB	chr14:47702336-47702586	HepG2	liver:	n/a	chr14:47702442-47702455 chr14:47702442-47702453
9	CEBPB	chr14:47649141-47649487	IMR90	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
10	CEBPB	chr14:47649201-47649458	K562	blood:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
11	CEBPB	chr14:47670622-47670894	IMR90	lung:	n/a	chr14:47670750-47670761
12	CEBPB	chr14:47649150-47649476	H1-hESC	embryonic stem cell:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
13	CEBPB	chr14:47649157-47649470	Hela-S3	cervix:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
14	CTCF	chr14:47677000-47677150	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr14:47676960-47677110	HMF	breast:	n/a	n/a
16	CTCF	chr14:47657520-47657670	GM12867	blood:	n/a	n/a
17	CTCF	chr14:47658527-47658561	GM10248	blood:	n/a	n/a
18	CTCF	chr14:47677476-47677597	IMR90	lung:	n/a	n/a
19	CTCF	chr14:47676900-47677184	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:47648473-47648590	IMR90	lung:	n/a	n/a
21	CTCF	chr14:47676900-47677050	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr14:47676920-47677070	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr14:47677604-47677684	K562	blood:	n/a	n/a
24	CTCF	chr14:47676980-47677130	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr14:47670188-47670291	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:47676983-47677043	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:47681560-47681710	HRE	kidney:	n/a	n/a
28	CTCF	chr14:47676920-47677070	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr14:47670160-47670310	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr14:47676927-47677107	Gliobla	brain:	n/a	n/a
31	CTCF	chr14:47676972-47677172	GM12878	blood:	n/a	n/a
32	CTCF	chr14:47676935-47677076	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr14:47676980-47677130	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr14:47676880-47677030	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr14:47676900-47677050	MCF-7	breast:	n/a	n/a
36	CTCF	chr14:47676900-47677050	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr14:47677004-47677026	LNCaP	prostate:	n/a	n/a
38	CTCF	chr14:47676940-47677090	Caco-2	colon:	n/a	n/a
39	CTCF	chr14:47670180-47670330	HepG2	liver:	n/a	n/a
40	CTCF	chr14:47676900-47677050	HRE	kidney:	n/a	n/a
41	CTCF	chr14:47670120-47670270	HEK293	kidney:	n/a	n/a
42	CTCF	chr14:47676898-47677188	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:47670240-47670290	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:47676898-47677133	Medullo	brain:	n/a	n/a
45	CTCF	chr14:47676979-47677048	LNCaP	prostate:	n/a	n/a
46	CTCF	chr14:47676925-47677100	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:47676960-47677110	MCF-7	breast:	n/a	n/a
48	CTCF	chr14:47676910-47677151	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr14:47676993-47677051	HepG2	liver:	n/a	n/a
50	CTCF	chr14:47676920-47677070	HRPEpiC	eye:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47670060-47670110	GM06990	blood:	n/a
2	chr14:47670060-47670110	NH-A	brain:	n/a
3	chr14:47670060-47670110	ECC-1	luminal epithelium:	n/a
4	chr14:47670060-47670110	AG04450	lung:	fetal
5	chr14:47670060-47670110	HEEpiC	esophagus:	n/a
6	chr14:47670060-47670110	AG04449	skin:	fetal
7	chr14:47670060-47670110	AG09309	skin:	n/a
8	chr14:47670060-47670110	HCF	heart:	n/a
9	chr14:47670060-47670110	Hepatocyte	liver:	n/a
10	chr14:47670060-47670110	HL-60	blood:	n/a
11	chr14:47670060-47670110	HUVEC	blood vessel:	n/a
12	chr14:47670060-47670110	NB4	blood:	n/a
13	chr14:47670060-47670110	GM19239	blood:	n/a
14	chr14:47670060-47670110	SAEC	small airway:	n/a
15	chr14:47670060-47670110	GM12891	blood:	n/a
16	chr14:47670060-47670110	BE2_C	brain:	n/a
17	chr14:47670060-47670110	H1-hESC	embryonic stem cell:	embryo
18	chr14:47670060-47670110	MCF-7	breast:	n/a
19	chr14:47670060-47670110	HIPEpiC	eye:	n/a
20	chr14:47670060-47670110	NHBE	bronchial:	n/a
21	chr14:47670060-47670110	Caco-2	colon:	n/a
22	chr14:47670060-47670110	HEK293	kidney:	embryo
23	chr14:47670060-47670110	HRCEpiC	kidney:	n/a
24	chr14:47670060-47670110	HRE	kidney:	n/a
25	chr14:47670060-47670110	RPTEC	kidney:	n/a
26	chr14:47670060-47670110	PANC-1	pancreas:	n/a
27	chr14:47670060-47670110	HNPCEpiC	eye:	n/a
28	chr14:47670060-47670110	GM12892	blood:	n/a
29	chr14:47670060-47670110	SK-N-SH_RA	brain:	n/a
30	chr14:47670060-47670110	GM12878	blood:	n/a
31	chr14:47670060-47670110	AG10803	skin:	n/a
32	chr14:47670060-47670110	AG09319	gingival:	n/a
33	chr14:47670060-47670110	NT2-D1	testis:	n/a
34	chr14:47670060-47670110	HCPEpiC	choroid plexus:	n/a
35	chr14:47670060-47670110	AoSMC	blood vessel:	n/a
36	chr14:47670060-47670110	Jurkat	blood:	n/a
37	chr14:47670060-47670110	K562	blood:	n/a
38	chr14:47670060-47670110	SK-N-SH	brain:	n/a
39	chr14:47670060-47670110	HRPEpiC	eye:	n/a
40	chr14:47670060-47670110	HMEC	breast:	n/a
41	chr14:47670060-47670110	ProgFib	skin:	n/a
42	chr14:47670060-47670110	SK-N-MC	brain:	n/a
43	chr14:47670060-47670110	CMK	blood:	n/a
44	chr14:47670060-47670110	Hela-S3	cervix:	n/a
45	chr14:47670060-47670110	NHDF-neo	bronchial:	n/a
46	chr14:47670060-47670110	T-47D	breast:	n/a
47	chr14:47670060-47670110	LNCaP	prostate:	n/a
48	chr14:47670060-47670110	HCM	heart:	n/a
49	chr14:47670060-47670110	ovcar-3	ovarian:	n/a
50	chr14:47670060-47670110	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:47699505..47700030-chr20:46283707..46284523,2	MCF-7	breast:
2	chr14:47706399..47708616-chr14:47715847..47717651,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL10L-2	chr14:47669778-47670307	NONHSAT036686

No data

Variant related genes	Relation type
RPL13AP2	TF binding region
RPL13AP2	CpG island

Extended variants
information (count: 2118 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2118 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148892600	chr14:47635823-47635824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542552502	chr14:47635826-47635827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533446362	chr14:47635842-47635843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76199375	chr14:47635847-47635848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572342808	chr14:47635857-47635858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534317332	chr14:47635904-47635905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545399051	chr14:47635916-47635917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377370516	chr14:47635932-47635933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183202790	chr14:47635977-47635978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111694549	chr14:47635992-47635993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376069437	chr14:47635993-47635994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186442634	chr14:47636015-47636016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs41534646	chr14:47636016-47636017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561137162	chr14:47636052-47636053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189655683	chr14:47636073-47636074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546931159	chr14:47636102-47636103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535856315	chr14:47636211-47636212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150983837	chr14:47636262-47636263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142110728	chr14:47636286-47636287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116390517	chr14:47636340-47636341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543041803	chr14:47636373-47636374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367729991	chr14:47636374-47636375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117663423	chr14:47636386-47636387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145857891	chr14:47636399-47636400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557138405	chr14:47636416-47636417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138685121	chr14:47636457-47636458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536455217	chr14:47636523-47636524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142709508	chr14:47636540-47636541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543121887	chr14:47636586-47636587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182255318	chr14:47636587-47636588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555741791	chr14:47636668-47636669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569211351	chr14:47636669-47636670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188156884	chr14:47636715-47636716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146921443	chr14:47636786-47636787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538193884	chr14:47636787-47636788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575275762	chr14:47636789-47636790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192715987	chr14:47636807-47636808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373001317	chr14:47636832-47636833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77626777	chr14:47636853-47636854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547188978	chr14:47636870-47636871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183501964	chr14:47636896-47636897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560597236	chr14:47637073-47637074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76284261	chr14:47637128-47637129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552632951	chr14:47637156-47637157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571257879	chr14:47637161-47637162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537045046	chr14:47637176-47637177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114708455	chr14:47637199-47637200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555396115	chr14:47640010-47640011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs570196819	chr14:47640050-47640051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs536023793	chr14:47640089-47640090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47635800-47637200	Enhancers	Fetal Kidney	kidney
2	chr14:47640000-47641600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr14:47640800-47641400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:47640800-47641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:47641000-47641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr14:47641000-47641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
8	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel
9	chr14:47655200-47656800	Enhancers	HUVEC	blood vessel
10	chr14:47655600-47655800	Enhancers	Brain Germinal Matrix	brain
11	chr14:47655600-47655800	Enhancers	Fetal Kidney	kidney
12	chr14:47655600-47656200	Enhancers	NH-A	brain
13	chr14:47655800-47656200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:47655800-47658400	Weak transcription	Brain Germinal Matrix	brain
15	chr14:47656200-47661000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:47656200-47661000	Weak transcription	NH-A	brain
17	chr14:47656600-47657400	Weak transcription	Fetal Kidney	kidney
18	chr14:47657400-47658600	Enhancers	Fetal Kidney	kidney
19	chr14:47658400-47658600	Enhancers	Brain Germinal Matrix	brain
20	chr14:47658600-47659000	Weak transcription	Brain Germinal Matrix	brain
21	chr14:47659000-47659400	Enhancers	Brain Germinal Matrix	brain
22	chr14:47659400-47659600	Enhancers	Pancreas	Pancrea
23	chr14:47661000-47661400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:47661000-47661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:47661000-47661400	Enhancers	NH-A	brain
26	chr14:47661000-47661600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:47661400-47662200	Weak transcription	NH-A	brain
28	chr14:47661400-47662400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:47662200-47663000	Enhancers	NH-A	brain
30	chr14:47662400-47664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:47662400-47664200	Enhancers	HUVEC	blood vessel
32	chr14:47662600-47664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:47663000-47664000	Weak transcription	NH-A	brain
34	chr14:47663000-47664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:47664000-47664200	Enhancers	NH-A	brain
36	chr14:47664200-47664800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:47664800-47665000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:47669000-47671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:47669600-47671600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:47671200-47672200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr14:47671400-47672000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:47671600-47672000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:47671600-47672000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:47671600-47672200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:47671600-47672200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:47671800-47672200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:47671800-47672400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:47671800-47672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:47672000-47680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:47672200-47676600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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