Variant report

Variant	nsv456302
Chromosome Location	chr14:47650921-47715621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:180)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:180 , 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	chr14:47652631-47652824	HepG2	liver:	n/a	chr14:47652761-47652772
3	CEBPB	chr14:47670575-47670926	HepG2	liver:	n/a	chr14:47670750-47670761
4	CEBPB	chr14:47702336-47702586	HepG2	liver:	n/a	chr14:47702442-47702455 chr14:47702442-47702453
5	CEBPB	chr14:47670622-47670894	IMR90	lung:	n/a	chr14:47670750-47670761
6	CTCF	chr14:47670188-47670291	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:47676900-47677050	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:47657520-47657670	GM12867	blood:	n/a	n/a
9	CTCF	chr14:47676900-47677050	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr14:47676960-47677110	HMF	breast:	n/a	n/a
11	CTCF	chr14:47676983-47677043	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:47676972-47677172	GM12878	blood:	n/a	n/a
13	CTCF	chr14:47676940-47677090	RPTEC	kidney:	n/a	n/a
14	CTCF	chr14:47677004-47677026	LNCaP	prostate:	n/a	n/a
15	CTCF	chr14:47677000-47677150	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr14:47670160-47670310	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr14:47676927-47677107	Gliobla	brain:	n/a	n/a
18	CTCF	chr14:47676940-47677077	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr14:47670158-47670319	A549	lung:	n/a	n/a
20	CTCF	chr14:47676900-47677050	RPTEC	kidney:	n/a	n/a
21	CTCF	chr14:47676898-47677188	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:47676920-47677070	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr14:47676925-47677100	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:47677000-47677150	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr14:47676900-47677184	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:47670200-47670203	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:47676993-47677051	HepG2	liver:	n/a	n/a
28	CTCF	chr14:47676900-47677050	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr14:47676880-47677030	HFF	foreskin:	n/a	n/a
30	CTCF	chr14:47670180-47670330	HepG2	liver:	n/a	n/a
31	CTCF	chr14:47676920-47677070	HRE	kidney:	n/a	n/a
32	CTCF	chr14:47670120-47670270	HEK293	kidney:	n/a	n/a
33	CTCF	chr14:47676935-47677076	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr14:47676920-47677070	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr14:47677476-47677597	IMR90	lung:	n/a	n/a
36	CTCF	chr14:47670240-47670290	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:47681560-47681710	HRE	kidney:	n/a	n/a
38	CTCF	chr14:47676940-47677090	BE2_C	brain:	n/a	n/a
39	CTCF	chr14:47677604-47677684	K562	blood:	n/a	n/a
40	CTCF	chr14:47676940-47677090	Caco-2	colon:	n/a	n/a
41	CTCF	chr14:47711581-47711647	GM13976	blood:	n/a	n/a
42	CTCF	chr14:47658527-47658561	GM10248	blood:	n/a	n/a
43	CTCF	chr14:47676910-47677151	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr14:47676980-47677130	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr14:47676940-47677090	HPAF	blood vessel:	n/a	n/a
46	CTCF	chr14:47676920-47677070	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr14:47676880-47677030	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr14:47676980-47677130	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr14:47676979-47677048	LNCaP	prostate:	n/a	n/a
50	CTCF	chr14:47676900-47677050	HRE	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	IMR90	lung:	fetal
2	chr14:47670060-47670110	HCF	heart:	n/a
3	chr14:47670060-47670110	AG09319	gingival:	n/a
4	chr14:47670060-47670110	GM12891	blood:	n/a
5	chr14:47670060-47670110	AG04449	skin:	fetal
6	chr14:47670060-47670110	HCM	heart:	n/a
7	chr14:47670060-47670110	Hela-S3	cervix:	n/a
8	chr14:47670060-47670110	ovcar-3	ovarian:	n/a
9	chr14:47670060-47670110	RPTEC	kidney:	n/a
10	chr14:47670060-47670110	PANC-1	pancreas:	n/a
11	chr14:47670060-47670110	MCF-7	breast:	n/a
12	chr14:47670060-47670110	H1-hESC	embryonic stem cell:	embryo
13	chr14:47670060-47670110	HRCEpiC	kidney:	n/a
14	chr14:47670060-47670110	NH-A	brain:	n/a
15	chr14:47670060-47670110	PFSK-1	brain:	n/a
16	chr14:47670060-47670110	NHBE	bronchial:	n/a
17	chr14:47670060-47670110	BJ	skin:	n/a
18	chr14:47670060-47670110	SK-N-SH_RA	brain:	n/a
19	chr14:47670060-47670110	NT2-D1	testis:	n/a
20	chr14:47670060-47670110	HEEpiC	esophagus:	n/a
21	chr14:47670060-47670110	HepG2	liver:	n/a
22	chr14:47670060-47670110	AG04450	lung:	fetal
23	chr14:47670060-47670110	GM19239	blood:	n/a
24	chr14:47670060-47670110	HNPCEpiC	eye:	n/a
25	chr14:47670060-47670110	PrEC	prostate:	n/a
26	chr14:47670060-47670110	HCT-116	colon:	n/a
27	chr14:47670060-47670110	SK-N-MC	brain:	n/a
28	chr14:47670060-47670110	K562	blood:	n/a
29	chr14:47670060-47670110	NHDF-neo	bronchial:	n/a
30	chr14:47670060-47670110	HCPEpiC	choroid plexus:	n/a
31	chr14:47670060-47670110	CMK	blood:	n/a
32	chr14:47670060-47670110	ProgFib	skin:	n/a
33	chr14:47670060-47670110	AoSMC	blood vessel:	n/a
34	chr14:47670060-47670110	SKMC	muscle:	n/a
35	chr14:47670060-47670110	MCF10A-Er-Src	breast:	n/a
36	chr14:47670060-47670110	U87	brain:	n/a
37	chr14:47670060-47670110	AG09309	skin:	n/a
38	chr14:47670060-47670110	T-47D	breast:	n/a
39	chr14:47670060-47670110	HIPEpiC	eye:	n/a
40	chr14:47670060-47670110	HAEpiC	amniotic membrane:	n/a
41	chr14:47670060-47670110	LNCaP	prostate:	n/a
42	chr14:47670060-47670110	A549	lung:	n/a
43	chr14:47670060-47670110	HRE	kidney:	n/a
44	chr14:47670060-47670110	SK-N-SH	brain:	n/a
45	chr14:47670060-47670110	AG10803	skin:	n/a
46	chr14:47670060-47670110	HPAEpiC	pulmonary alveolar:	n/a
47	chr14:47670060-47670110	NB4	blood:	n/a
48	chr14:47670060-47670110	GM06990	blood:	n/a
49	chr14:47670060-47670110	Caco-2	colon:	n/a
50	chr14:47670060-47670110	SAEC	small airway:	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: 1960 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575809907	chr14:47651705-47651706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577830615	chr14:47651735-47651736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544927163	chr14:47651806-47651807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76997339	chr14:47651811-47651812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540175620	chr14:47651847-47651848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528935204	chr14:47651884-47651885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549080836	chr14:47651889-47651890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148650740	chr14:47651924-47651925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189410175	chr14:47651931-47651932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80029059	chr14:47651954-47651955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142109381	chr14:47651956-47651957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72680228	chr14:47651965-47651966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs146676060	chr14:47652007-47652008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117706817	chr14:47652022-47652023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567308019	chr14:47652038-47652039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536275106	chr14:47652044-47652045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552972037	chr14:47652085-47652086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573225349	chr14:47652124-47652125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539135299	chr14:47652149-47652150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558839355	chr14:47652154-47652155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181289592	chr14:47652159-47652160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35739519	chr14:47652184-47652185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369255844	chr14:47652206-47652207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184966472	chr14:47652246-47652247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190161464	chr14:47652248-47652249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143975625	chr14:47652267-47652268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111658195	chr14:47652286-47652287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181657470	chr14:47652325-47652326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559315547	chr14:47652334-47652335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370924581	chr14:47652342-47652343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545090166	chr14:47652363-47652364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77194036	chr14:47652390-47652391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186132076	chr14:47652412-47652413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530769066	chr14:47652427-47652428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373635197	chr14:47652533-47652534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550439796	chr14:47652540-47652541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367809306	chr14:47652568-47652569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567195738	chr14:47652625-47652626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190988038	chr14:47652689-47652690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562558991	chr14:47652690-47652691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371170967	chr14:47652789-47652790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538755947	chr14:47652817-47652818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559047748	chr14:47652839-47652840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180670657	chr14:47652841-47652842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376124373	chr14:47652874-47652875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538466989	chr14:47652875-47652876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555220503	chr14:47652900-47652901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575151696	chr14:47652901-47652902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540937004	chr14:47652914-47652915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10873003	chr14:47652946-47652947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
2	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel
3	chr14:47655200-47656800	Enhancers	HUVEC	blood vessel
4	chr14:47655600-47655800	Enhancers	Brain Germinal Matrix	brain
5	chr14:47655600-47655800	Enhancers	Fetal Kidney	kidney
6	chr14:47655600-47656200	Enhancers	NH-A	brain
7	chr14:47655800-47656200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:47655800-47658400	Weak transcription	Brain Germinal Matrix	brain
9	chr14:47656200-47661000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:47656200-47661000	Weak transcription	NH-A	brain
11	chr14:47656600-47657400	Weak transcription	Fetal Kidney	kidney
12	chr14:47657400-47658600	Enhancers	Fetal Kidney	kidney
13	chr14:47658400-47658600	Enhancers	Brain Germinal Matrix	brain
14	chr14:47658600-47659000	Weak transcription	Brain Germinal Matrix	brain
15	chr14:47659000-47659400	Enhancers	Brain Germinal Matrix	brain
16	chr14:47659400-47659600	Enhancers	Pancreas	Pancrea
17	chr14:47661000-47661400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:47661000-47661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:47661000-47661400	Enhancers	NH-A	brain
20	chr14:47661000-47661600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:47661400-47662200	Weak transcription	NH-A	brain
22	chr14:47661400-47662400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:47662200-47663000	Enhancers	NH-A	brain
24	chr14:47662400-47664200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:47662400-47664200	Enhancers	HUVEC	blood vessel
26	chr14:47662600-47664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:47663000-47664000	Weak transcription	NH-A	brain
28	chr14:47663000-47664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:47664000-47664200	Enhancers	NH-A	brain
30	chr14:47664200-47664800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:47664800-47665000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:47669000-47671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:47669600-47671600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:47671200-47672200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:47671400-47672000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:47671600-47672000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:47671600-47672000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr14:47671600-47672200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:47671600-47672200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr14:47671800-47672200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:47671800-47672400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:47671800-47672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:47672000-47680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:47672200-47676600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:47672200-47676600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:47672200-47677400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:47672400-47676600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:47675000-47675200	Enhancers	Brain Angular Gyrus	brain
49	chr14:47675000-47675400	Enhancers	Brain Cingulate Gyrus	brain
50	chr14:47675000-47678000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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