Variant report

Variant	nsv901890
Chromosome Location	chr14:47594099-47729711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:273)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:273 , 50 per page) page: 1 2 3 4 5 6

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	chr14:47649198-47649493	ECC-1	luminal epithelium:	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	chr14:47617931-47618193	K562	blood:	n/a	chr14:47618074-47618085
5	CEBPB	chr14:47649134-47649469	A549	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
6	CEBPB	chr14:47647084-47647297	A549	lung:	n/a	n/a
7	CEBPB	chr14:47617899-47618250	IMR90	lung:	n/a	chr14:47618074-47618085
8	CEBPB	chr14:47670622-47670894	IMR90	lung:	n/a	chr14:47670750-47670761
9	CEBPB	chr14:47649141-47649487	IMR90	lung:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
10	CEBPB	chr14:47617918-47618257	A549	lung:	n/a	chr14:47618074-47618085
11	CEBPB	chr14:47649136-47649487	HepG2	liver:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
12	CEBPB	chr14:47652631-47652824	HepG2	liver:	n/a	chr14:47652761-47652772
13	CEBPB	chr14:47649150-47649476	H1-hESC	embryonic stem cell:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
14	CEBPB	chr14:47670575-47670926	HepG2	liver:	n/a	chr14:47670750-47670761
15	CEBPB	chr14:47624242-47624527	A549	lung:	n/a	chr14:47624388-47624399
16	CEBPB	chr14:47617920-47618180	H1-hESC	embryonic stem cell:	n/a	chr14:47618074-47618085
17	CEBPB	chr14:47617889-47618242	HepG2	liver:	n/a	chr14:47618074-47618085
18	CEBPB	chr14:47624860-47625066	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:47649201-47649458	K562	blood:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
20	CEBPB	chr14:47624212-47624557	HepG2	liver:	n/a	chr14:47624388-47624399
21	CEBPB	chr14:47617893-47618243	ECC-1	luminal epithelium:	n/a	chr14:47618074-47618085
22	CEBPB	chr14:47649157-47649470	Hela-S3	cervix:	n/a	chr14:47649288-47649299 chr14:47649318-47649329
23	CTCF	chr14:47676972-47677172	GM12878	blood:	n/a	n/a
24	CTCF	chr14:47676900-47677050	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr14:47629440-47629590	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr14:47670160-47670310	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr14:47676898-47677188	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:47711581-47711647	GM13976	blood:	n/a	n/a
29	CTCF	chr14:47676940-47677090	RPTEC	kidney:	n/a	n/a
30	CTCF	chr14:47676910-47677151	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr14:47676980-47677130	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr14:47676993-47677051	HepG2	liver:	n/a	n/a
33	CTCF	chr14:47648473-47648590	IMR90	lung:	n/a	n/a
34	CTCF	chr14:47695480-47695630	HRE	kidney:	n/a	chr14:47695605-47695613
35	CTCF	chr14:47676900-47677050	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr14:47677000-47677150	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr14:47609740-47609890	GM12869	blood:	n/a	n/a
38	CTCF	chr14:47676880-47677030	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr14:47670180-47670330	HepG2	liver:	n/a	n/a
40	CTCF	chr14:47676960-47677110	HMF	breast:	n/a	n/a
41	CTCF	chr14:47676940-47677090	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr14:47676900-47677050	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:47676979-47677048	LNCaP	prostate:	n/a	n/a
44	CTCF	chr14:47676980-47677130	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr14:47597987-47598050	GM10248	blood:	n/a	n/a
46	CTCF	chr14:47676920-47677070	HRE	kidney:	n/a	n/a
47	CTCF	chr14:47657520-47657670	GM12867	blood:	n/a	n/a
48	CTCF	chr14:47631257-47631311	GM20000	blood:	n/a	n/a
49	CTCF	chr14:47676925-47677100	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:47670120-47670270	HEK293	kidney:	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	PFSK-1	brain:	n/a
2	chr14:47670060-47670110	PANC-1	pancreas:	n/a
3	chr14:47670060-47670110	LNCaP	prostate:	n/a
4	chr14:47670060-47670110	HMEC	breast:	n/a
5	chr14:47670060-47670110	NH-A	brain:	n/a
6	chr14:47670060-47670110	SK-N-SH_RA	brain:	n/a
7	chr14:47670060-47670110	SAEC	small airway:	n/a
8	chr14:47670060-47670110	CMK	blood:	n/a
9	chr14:47670060-47670110	GM19239	blood:	n/a
10	chr14:47670060-47670110	AG04450	lung:	fetal
11	chr14:47670060-47670110	HepG2	liver:	n/a
12	chr14:47670060-47670110	BJ	skin:	n/a
13	chr14:47670060-47670110	HEEpiC	esophagus:	n/a
14	chr14:47670060-47670110	HCT-116	colon:	n/a
15	chr14:47670060-47670110	BE2_C	brain:	n/a
16	chr14:47670060-47670110	SK-N-SH	brain:	n/a
17	chr14:47670060-47670110	MCF10A-Er-Src	breast:	n/a
18	chr14:47670060-47670110	NHBE	bronchial:	n/a
19	chr14:47670060-47670110	Hela-S3	cervix:	n/a
20	chr14:47670060-47670110	Hepatocyte	liver:	n/a
21	chr14:47670060-47670110	HRPEpiC	eye:	n/a
22	chr14:47670060-47670110	HEK293	kidney:	embryo
23	chr14:47670060-47670110	A549	lung:	n/a
24	chr14:47670060-47670110	GM12892	blood:	n/a
25	chr14:47670060-47670110	IMR90	lung:	fetal
26	chr14:47670060-47670110	AG09309	skin:	n/a
27	chr14:47670060-47670110	H1-hESC	embryonic stem cell:	embryo
28	chr14:47670060-47670110	GM06990	blood:	n/a
29	chr14:47670060-47670110	Jurkat	blood:	n/a
30	chr14:47670060-47670110	AG10803	skin:	n/a
31	chr14:47670060-47670110	SK-N-MC	brain:	n/a
32	chr14:47670060-47670110	MCF-7	breast:	n/a
33	chr14:47670060-47670110	ECC-1	luminal epithelium:	n/a
34	chr14:47670060-47670110	NB4	blood:	n/a
35	chr14:47670060-47670110	HAEpiC	amniotic membrane:	n/a
36	chr14:47670060-47670110	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:47670060-47670110	HUVEC	blood vessel:	n/a
38	chr14:47670060-47670110	HCPEpiC	choroid plexus:	n/a
39	chr14:47670060-47670110	HRE	kidney:	n/a
40	chr14:47670060-47670110	HL-60	blood:	n/a
41	chr14:47670060-47670110	NT2-D1	testis:	n/a
42	chr14:47670060-47670110	HCM	heart:	n/a
43	chr14:47670060-47670110	HIPEpiC	eye:	n/a
44	chr14:47670060-47670110	U87	brain:	n/a
45	chr14:47670060-47670110	ProgFib	skin:	n/a
46	chr14:47670060-47670110	K562	blood:	n/a
47	chr14:47670060-47670110	ovcar-3	ovarian:	n/a
48	chr14:47670060-47670110	SKMC	muscle:	n/a
49	chr14:47670060-47670110	Caco-2	colon:	n/a
50	chr14:47670060-47670110	GM12891	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:54734855..54737428-chr14:47592677..47595618,2	MCF-7	breast:
2	chr14:47706399..47708616-chr14:47715847..47717651,2	MCF-7	breast:
3	chr14:47699505..47700030-chr20:46283707..46284523,2	MCF-7	breast:
4	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
MDGA2	TF binding region
RPL13AP2	CpG island
MDGA2	CpG island

Extended variants
information (count: 3350 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3350 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534000146	chr14:47597605-47597606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545472799	chr14:47597607-47597608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61995361	chr14:47597620-47597621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553826818	chr14:47597628-47597629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190736112	chr14:47597633-47597634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565016482	chr14:47597641-47597642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183205298	chr14:47597665-47597666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374704728	chr14:47597685-47597686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559044410	chr14:47597749-47597750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527815885	chr14:47597753-47597754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79326975	chr14:47597783-47597784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547886012	chr14:47597813-47597814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542516986	chr14:47597871-47597872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560695327	chr14:47597875-47597876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35221831	chr14:47597902-47597903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397852925	chr14:47597917-47597918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111728565	chr14:47597920-47597921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574464826	chr14:47597999-47598000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540268380	chr14:47598027-47598028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111592835	chr14:47598043-47598044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532292425	chr14:47598139-47598140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552040257	chr14:47598143-47598144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529128573	chr14:47598167-47598168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549268273	chr14:47598169-47598170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548485295	chr14:47598177-47598178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568041277	chr14:47598180-47598181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527660697	chr14:47598181-47598182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142729265	chr14:47598190-47598191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375438587	chr14:47598192-47598193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568723336	chr14:47598234-47598235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147352799	chr14:47598272-47598273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555401313	chr14:47598292-47598293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71112485	chr14:47598302-47598303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556439205	chr14:47598312-47598313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77966358	chr14:47598383-47598384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186454302	chr14:47598436-47598437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535856949	chr14:47598442-47598443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201340364	chr14:47598443-47598444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535698878	chr14:47598444-47598445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189639757	chr14:47598448-47598449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182715984	chr14:47598449-47598450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369477135	chr14:47598498-47598499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572817643	chr14:47598526-47598527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540229841	chr14:47598563-47598564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553809368	chr14:47598580-47598581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576974644	chr14:47598610-47598611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551422574	chr14:47598620-47598621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545900444	chr14:47598625-47598626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562516564	chr14:47598639-47598640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373617237	chr14:47598716-47598717	Weak transcription	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:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47597600-47612200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:47601200-47601400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr14:47601200-47601600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:47601400-47601800	Enhancers	Brain Germinal Matrix	brain
5	chr14:47601400-47606200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:47601600-47601800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:47601600-47606400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:47601800-47606600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr14:47602800-47603400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:47603400-47606400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:47604800-47605800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:47606000-47607000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:47606200-47607200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:47606400-47607200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:47606400-47607200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:47606400-47607200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:47606400-47607400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:47606400-47607400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr14:47606600-47607000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:47606600-47607000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:47606800-47607200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:47614600-47615400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:47614800-47615400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:47615200-47615600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:47615400-47616600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:47616600-47616800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:47618200-47619400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:47618800-47619200	Enhancers	NH-A	brain
29	chr14:47618800-47620000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:47619200-47619800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:47623600-47624000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:47623600-47625000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:47623800-47624400	Enhancers	Spleen	Spleen
34	chr14:47625000-47629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:47629600-47629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:47635800-47637200	Enhancers	Fetal Kidney	kidney
37	chr14:47640000-47641600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr14:47640800-47641400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:47640800-47641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:47641000-47641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr14:47641000-47641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
43	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel
44	chr14:47655200-47656800	Enhancers	HUVEC	blood vessel
45	chr14:47655600-47655800	Enhancers	Brain Germinal Matrix	brain
46	chr14:47655600-47655800	Enhancers	Fetal Kidney	kidney
47	chr14:47655600-47656200	Enhancers	NH-A	brain
48	chr14:47655800-47656200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr14:47655800-47658400	Weak transcription	Brain Germinal Matrix	brain
50	chr14:47656200-47661000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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