Variant report

Variant	nsv901891
Chromosome Location	chr14:47620548-47708397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

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	chr14:47649201-47649458	K562	blood:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
3	CEBPB	chr14:47702336-47702586	HepG2	liver:	n/a	chr14:47702442-47702455 chr14:47702442-47702453
4	CEBPB	chr14:47649198-47649493	ECC-1	luminal epithelium:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
5	CEBPB	chr14:47670622-47670894	IMR90	lung:	n/a	chr14:47670750-47670761
6	CEBPB	chr14:47647084-47647297	A549	lung:	n/a	n/a
7	CEBPB	chr14:47624860-47625066	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:47624212-47624557	HepG2	liver:	n/a	chr14:47624388-47624399
9	CEBPB	chr14:47649157-47649470	Hela-S3	cervix:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
10	CEBPB	chr14:47652631-47652824	HepG2	liver:	n/a	chr14:47652761-47652772
11	CEBPB	chr14:47624242-47624527	A549	lung:	n/a	chr14:47624388-47624399
12	CEBPB	chr14:47649136-47649487	HepG2	liver:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
13	CEBPB	chr14:47649134-47649469	A549	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
14	CEBPB	chr14:47649150-47649476	H1-hESC	embryonic stem cell:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
15	CEBPB	chr14:47649141-47649487	IMR90	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
16	CEBPB	chr14:47670575-47670926	HepG2	liver:	n/a	chr14:47670750-47670761
17	CTCF	chr14:47676910-47677151	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr14:47677004-47677026	LNCaP	prostate:	n/a	n/a
19	CTCF	chr14:47676900-47677184	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:47695480-47695630	HRE	kidney:	n/a	chr14:47695605-47695613
21	CTCF	chr14:47676920-47677070	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr14:47676960-47677110	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:47670240-47670290	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:47676880-47677030	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr14:47676940-47677090	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr14:47676898-47677188	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:47670160-47670310	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr14:47677000-47677150	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr14:47670188-47670291	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:47676940-47677090	RPTEC	kidney:	n/a	n/a
31	CTCF	chr14:47676993-47677051	HepG2	liver:	n/a	n/a
32	CTCF	chr14:47649380-47649530	GM12867	blood:	n/a	n/a
33	CTCF	chr14:47676900-47677050	RPTEC	kidney:	n/a	n/a
34	CTCF	chr14:47629440-47629590	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr14:47676927-47677107	Gliobla	brain:	n/a	n/a
36	CTCF	chr14:47670200-47670203	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:47681560-47681710	HRE	kidney:	n/a	n/a
38	CTCF	chr14:47658527-47658561	GM10248	blood:	n/a	n/a
39	CTCF	chr14:47676979-47677048	LNCaP	prostate:	n/a	n/a
40	CTCF	chr14:47676900-47677050	HRE	kidney:	n/a	n/a
41	CTCF	chr14:47676920-47677070	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr14:47676920-47677070	HRE	kidney:	n/a	n/a
43	CTCF	chr14:47676900-47677050	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:47676980-47677130	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr14:47670120-47670270	HEK293	kidney:	n/a	n/a
46	CTCF	chr14:47670180-47670330	HepG2	liver:	n/a	n/a
47	CTCF	chr14:47676940-47677077	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr14:47676983-47677043	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:47677604-47677684	K562	blood:	n/a	n/a
50	CTCF	chr14:47657520-47657670	GM12867	blood:	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	HCT-116	colon:	n/a
2	chr14:47670060-47670110	Hela-S3	cervix:	n/a
3	chr14:47670060-47670110	K562	blood:	n/a
4	chr14:47670060-47670110	CMK	blood:	n/a
5	chr14:47670060-47670110	PANC-1	pancreas:	n/a
6	chr14:47670060-47670110	HRE	kidney:	n/a
7	chr14:47670060-47670110	T-47D	breast:	n/a
8	chr14:47670060-47670110	RPTEC	kidney:	n/a
9	chr14:47670060-47670110	HEEpiC	esophagus:	n/a
10	chr14:47670060-47670110	NH-A	brain:	n/a
11	chr14:47670060-47670110	ProgFib	skin:	n/a
12	chr14:47670060-47670110	AoSMC	blood vessel:	n/a
13	chr14:47670060-47670110	AG09309	skin:	n/a
14	chr14:47670060-47670110	NHDF-neo	bronchial:	n/a
15	chr14:47670060-47670110	SK-N-MC	brain:	n/a
16	chr14:47670060-47670110	HUVEC	blood vessel:	n/a
17	chr14:47670060-47670110	GM19239	blood:	n/a
18	chr14:47670060-47670110	BE2_C	brain:	n/a
19	chr14:47670060-47670110	HCM	heart:	n/a
20	chr14:47670060-47670110	BJ	skin:	n/a
21	chr14:47670060-47670110	HepG2	liver:	n/a
22	chr14:47670060-47670110	SK-N-SH_RA	brain:	n/a
23	chr14:47670060-47670110	SK-N-SH	brain:	n/a
24	chr14:47670060-47670110	NB4	blood:	n/a
25	chr14:47670060-47670110	PrEC	prostate:	n/a
26	chr14:47670060-47670110	HNPCEpiC	eye:	n/a
27	chr14:47670060-47670110	AG04449	skin:	fetal
28	chr14:47670060-47670110	MCF10A-Er-Src	breast:	n/a
29	chr14:47670060-47670110	Caco-2	colon:	n/a
30	chr14:47670060-47670110	A549	lung:	n/a
31	chr14:47670060-47670110	MCF-7	breast:	n/a
32	chr14:47670060-47670110	AG10803	skin:	n/a
33	chr14:47670060-47670110	HMEC	breast:	n/a
34	chr14:47670060-47670110	NT2-D1	testis:	n/a
35	chr14:47670060-47670110	Hepatocyte	liver:	n/a
36	chr14:47670060-47670110	ovcar-3	ovarian:	n/a
37	chr14:47670060-47670110	AG09319	gingival:	n/a
38	chr14:47670060-47670110	GM12892	blood:	n/a
39	chr14:47670060-47670110	HAEpiC	amniotic membrane:	n/a
40	chr14:47670060-47670110	NHBE	bronchial:	n/a
41	chr14:47670060-47670110	ECC-1	luminal epithelium:	n/a
42	chr14:47670060-47670110	HRPEpiC	eye:	n/a
43	chr14:47670060-47670110	HL-60	blood:	n/a
44	chr14:47670060-47670110	GM06990	blood:	n/a
45	chr14:47670060-47670110	LNCaP	prostate:	n/a
46	chr14:47670060-47670110	Jurkat	blood:	n/a
47	chr14:47670060-47670110	PFSK-1	brain:	n/a
48	chr14:47670060-47670110	HRCEpiC	kidney:	n/a
49	chr14:47670060-47670110	SKMC	muscle:	n/a
50	chr14:47670060-47670110	U87	brain:	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: 2204 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2204 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578248592	chr14:47623626-47623627	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573669045	chr14:47623636-47623637	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542779001	chr14:47623670-47623671	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs386777177	chr14:47623678-47623679	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559565648	chr14:47623683-47623684	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143026334	chr14:47623684-47623685	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372594543	chr14:47623685-47623686	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528327226	chr14:47623686-47623687	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143639133	chr14:47623694-47623695	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs148275417	chr14:47623698-47623699	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567967053	chr14:47623714-47623715	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs529276360	chr14:47623764-47623765	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565223416	chr14:47623785-47623786	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200426724	chr14:47623845-47623846	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs386777178	chr14:47623846-47623847	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs61995369	chr14:47623847-47623848	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550709854	chr14:47623887-47623888	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567717681	chr14:47623963-47623964	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536371651	chr14:47623972-47623973	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546721192	chr14:47623999-47624000	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375819170	chr14:47624019-47624020	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77585539	chr14:47624069-47624070	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184833006	chr14:47624085-47624086	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558822821	chr14:47624114-47624115	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189601677	chr14:47624126-47624127	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537014915	chr14:47624129-47624130	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553840520	chr14:47624156-47624157	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556702517	chr14:47624193-47624194	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115043268	chr14:47624196-47624197	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542728880	chr14:47624197-47624198	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1120919	chr14:47624206-47624207	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74351395	chr14:47624239-47624240	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192199189	chr14:47624246-47624247	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565144194	chr14:47624281-47624282	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111764940	chr14:47624288-47624289	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549065376	chr14:47624302-47624303	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150784226	chr14:47624323-47624324	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566066495	chr14:47624350-47624351	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561106250	chr14:47624364-47624365	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530144793	chr14:47624424-47624425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139298040	chr14:47624432-47624433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184577909	chr14:47624461-47624462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142491791	chr14:47624462-47624463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112581120	chr14:47624496-47624497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562985471	chr14:47624498-47624499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145962299	chr14:47624549-47624550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139850900	chr14:47624552-47624553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555277202	chr14:47624553-47624554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567138603	chr14:47624592-47624593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563944816	chr14:47624602-47624603	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	chr14:47623600-47624000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:47623600-47625000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:47623800-47624400	Enhancers	Spleen	Spleen
4	chr14:47625000-47629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:47629600-47629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:47635800-47637200	Enhancers	Fetal Kidney	kidney
7	chr14:47640000-47641600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr14:47640800-47641400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:47640800-47641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:47641000-47641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr14:47641000-47641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
13	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel
14	chr14:47655200-47656800	Enhancers	HUVEC	blood vessel
15	chr14:47655600-47655800	Enhancers	Brain Germinal Matrix	brain
16	chr14:47655600-47655800	Enhancers	Fetal Kidney	kidney
17	chr14:47655600-47656200	Enhancers	NH-A	brain
18	chr14:47655800-47656200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:47655800-47658400	Weak transcription	Brain Germinal Matrix	brain
20	chr14:47656200-47661000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:47656200-47661000	Weak transcription	NH-A	brain
22	chr14:47656600-47657400	Weak transcription	Fetal Kidney	kidney
23	chr14:47657400-47658600	Enhancers	Fetal Kidney	kidney
24	chr14:47658400-47658600	Enhancers	Brain Germinal Matrix	brain
25	chr14:47658600-47659000	Weak transcription	Brain Germinal Matrix	brain
26	chr14:47659000-47659400	Enhancers	Brain Germinal Matrix	brain
27	chr14:47659400-47659600	Enhancers	Pancreas	Pancrea
28	chr14:47661000-47661400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:47661000-47661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:47661000-47661400	Enhancers	NH-A	brain
31	chr14:47661000-47661600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:47661400-47662200	Weak transcription	NH-A	brain
33	chr14:47661400-47662400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:47662200-47663000	Enhancers	NH-A	brain
35	chr14:47662400-47664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:47662400-47664200	Enhancers	HUVEC	blood vessel
37	chr14:47662600-47664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:47663000-47664000	Weak transcription	NH-A	brain
39	chr14:47663000-47664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:47664000-47664200	Enhancers	NH-A	brain
41	chr14:47664200-47664800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:47664800-47665000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:47669000-47671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:47669600-47671600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:47671200-47672200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr14:47671400-47672000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:47671600-47672000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:47671600-47672000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:47671600-47672200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:47671600-47672200	Enhancers	HUES6 Cell Line	embryonic stem cell

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