Variant report

Variant	nsv901656
Chromosome Location	chr14:39370726-39423339
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	BACH1	chr14:39378402-39378716	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:39401603-39401789	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr14:39377237-39377526	GM12878	blood:	n/a	n/a
4	CEBPB	chr14:39376355-39376611	A549	lung:	n/a	chr14:39376550-39376563 chr14:39376467-39376476 chr14:39376467-39376478 chr14:39376467-39376478 chr14:39376488-39376499 chr14:39376465-39376476 chr14:39376467-39376476 chr14:39376465-39376478 chr14:39376487-39376504 chr14:39376467-39376476 chr14:39376467-39376476
5	CEBPB	chr14:39397351-39397676	HepG2	liver:	n/a	chr14:39397513-39397524
6	CEBPB	chr14:39397346-39397680	K562	blood:	n/a	chr14:39397513-39397524
7	CEBPB	chr14:39412428-39412479	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:39376341-39376661	HepG2	liver:	n/a	chr14:39376550-39376563 chr14:39376467-39376476 chr14:39376467-39376478 chr14:39376467-39376478 chr14:39376488-39376499 chr14:39376465-39376476 chr14:39376467-39376476 chr14:39376465-39376478 chr14:39376487-39376504 chr14:39376467-39376476 chr14:39376467-39376476
9	CEBPB	chr14:39397314-39397701	MCF-7	breast:	n/a	chr14:39397513-39397524
10	CHD2	chr14:39401761-39401897	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:39410800-39410950	AG09309	skin:	n/a	n/a
12	CTCF	chr14:39410960-39411110	HCM	heart:	n/a	n/a
13	CTCF	chr14:39410980-39411130	HVMF	connective:	n/a	n/a
14	CTCF	chr14:39410842-39410911	Gliobla	brain:	n/a	n/a
15	CTCF	chr14:39410818-39410926	A549	lung:	n/a	n/a
16	CTCF	chr14:39410840-39410990	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr14:39391363-39391376	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:39410760-39410910	Caco-2	colon:	n/a	n/a
19	CTCF	chr14:39410860-39411010	HAc	cerebellar:	n/a	n/a
20	CTCF	chr14:39410780-39410930	NHEK	skin:	n/a	n/a
21	CTCF	chr14:39410780-39410930	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr14:39391339-39391436	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:39391600-39391750	HepG2	liver:	n/a	n/a
24	CTCF	chr14:39410740-39410890	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr14:39410780-39410930	HMF	breast:	n/a	n/a
26	CTCF	chr14:39410777-39410956	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:39410780-39410930	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr14:39410780-39410978	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:39391327-39391435	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:39410820-39410970	AG09319	gingival:	n/a	n/a
31	CTCF	chr14:39410840-39410905	K562	blood:	n/a	n/a
32	CTCF	chr14:39410808-39410948	ProgFib	skin:	n/a	n/a
33	CTCF	chr14:39410760-39410910	GM12865	blood:	n/a	n/a
34	CTCF	chr14:39410840-39410990	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:39410853-39410894	NHEK	skin:	n/a	n/a
36	CTCF	chr14:39410782-39411021	K562	blood:	n/a	n/a
37	CTCF	chr14:39410800-39410950	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr14:39410760-39410910	AG04449	skin:	n/a	n/a
39	CTCF	chr14:39410832-39410920	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr14:39391200-39391350	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:39410759-39411030	GM12878	blood:	n/a	n/a
42	CTCF	chr14:39419880-39420030	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr14:39410780-39410930	GM12878	blood:	n/a	n/a
44	CTCF	chr14:39410780-39410930	AG04449	skin:	n/a	n/a
45	CTCF	chr14:39410780-39410930	AG09319	gingival:	n/a	n/a
46	CTCF	chr14:39410780-39410930	HepG2	liver:	n/a	n/a
47	CTCF	chr14:39410820-39410970	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr14:39410800-39410950	BJ	skin:	n/a	n/a
49	CTCF	chr14:39410815-39410906	Fibrobl	skin:	n/a	n/a
50	CTCF	chr14:39410800-39410950	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39410789..39411608-chr14:39483894..39485313,6	MCF-7	breast:
2	chr14:39412833..39415383-chr14:39419578..39422326,3	MCF-7	breast:
3	chr14:39409994..39412907-chr14:39426330..39428595,2	MCF-7	breast:
4	chr14:39380747..39381570-chr14:39484361..39485038,2	K562	blood:
5	chr14:39412833..39415383-chr14:39419578..39422326,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC23A-1	chr14:39410724-39410899	ENSG00000259070.1
2	lnc-GEMIN2-2	chr14:39420873-39420994	XLOC_010810
3	lnc-GEMIN2-2	chr14:39377287-39377321	XLOC_010810
4	lnc-SEC23A-1	chr14:39417382-39417410	ENSG00000259070.1
5	lnc-GEMIN2-2	chr14:39420873-39420994	XLOC_010810
6	lnc-GEMIN2-2	chr14:39420872-39420994	NONHSAT036504
7	lnc-SEC23A-1	chr14:39410558-39410577	ENSG00000259070.1
8	lnc-SEC23A-1	chr14:39417382-39417441	ENSG00000259070.1
9	lnc-SEC23A-1	chr14:39410724-39410899	ENSG00000259070.1

Variant related genes	Relation type
LINC00639	TF binding region
TCTA	miRNA target sites
EIF2C1	miRNA target sites
HUWE1	miRNA target sites

Extended variants
information (count: 1816 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1816 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4902228	chr14:39370726-39370727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183305462	chr14:39370760-39370761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560067416	chr14:39370889-39370890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573746078	chr14:39370907-39370908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74338421	chr14:39370922-39370923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74048384	chr14:39370947-39370948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551834173	chr14:39371009-39371010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530821311	chr14:39371045-39371046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550550724	chr14:39371080-39371081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376262172	chr14:39371099-39371100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140531627	chr14:39371103-39371104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80217392	chr14:39371113-39371114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186007759	chr14:39371114-39371115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552684677	chr14:39371115-39371116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11625960	chr14:39371116-39371117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373235539	chr14:39371151-39371152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34078718	chr14:39371179-39371180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190870011	chr14:39371204-39371205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377696775	chr14:39371279-39371280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549105014	chr14:39371356-39371357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568933937	chr14:39371358-39371359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566166411	chr14:39371367-39371368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537882162	chr14:39371391-39371392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183420234	chr14:39371461-39371462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369993343	chr14:39371508-39371509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77034699	chr14:39371596-39371597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187781282	chr14:39371624-39371625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145636111	chr14:39371630-39371631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190587761	chr14:39371637-39371638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573756381	chr14:39371648-39371649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543768605	chr14:39371679-39371680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148913843	chr14:39371692-39371693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537703750	chr14:39371720-39371721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111676494	chr14:39371724-39371725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182936114	chr14:39371750-39371751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187841004	chr14:39371773-39371774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17108543	chr14:39371789-39371790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs533327608	chr14:39371795-39371796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547002492	chr14:39371812-39371813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150938775	chr14:39371834-39371835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79605683	chr14:39371879-39371880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549590734	chr14:39371889-39371890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72669375	chr14:39371909-39371910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140888750	chr14:39371949-39371950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551430818	chr14:39371980-39371981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144688903	chr14:39371986-39371987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553810867	chr14:39371998-39371999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201078628	chr14:39371999-39372000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533735648	chr14:39372050-39372051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557415347	chr14:39372063-39372064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39370000-39371400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:39370200-39370800	Enhancers	Stomach Mucosa	stomach
3	chr14:39370400-39375600	Weak transcription	Brain Substantia Nigra	brain
4	chr14:39370600-39378200	Weak transcription	Brain Hippocampus Middle	brain
5	chr14:39371200-39371800	Enhancers	Psoas Muscle	Psoas
6	chr14:39375600-39376400	Enhancers	Brain Substantia Nigra	brain
7	chr14:39376400-39379600	Weak transcription	Brain Substantia Nigra	brain
8	chr14:39377800-39379200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:39378200-39378400	Enhancers	Brain Hippocampus Middle	brain
10	chr14:39378400-39379000	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:39379000-39379200	Enhancers	GM12878-XiMat	blood
12	chr14:39379000-39379400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:39379000-39379800	Enhancers	Brain Hippocampus Middle	brain
14	chr14:39379200-39379600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr14:39379200-39379800	Flanking Active TSS	GM12878-XiMat	blood
16	chr14:39379600-39380000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr14:39379600-39380000	Enhancers	Brain Substantia Nigra	brain
18	chr14:39379600-39380600	Enhancers	Spleen	Spleen
19	chr14:39379800-39380000	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:39379800-39380000	Enhancers	GM12878-XiMat	blood
21	chr14:39380000-39386000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:39380800-39381000	Enhancers	Left Ventricle	heart
23	chr14:39381000-39382400	Weak transcription	Left Ventricle	heart
24	chr14:39388800-39389200	Enhancers	Brain Substantia Nigra	brain
25	chr14:39389200-39398400	Weak transcription	Brain Substantia Nigra	brain
26	chr14:39397200-39398800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:39397400-39401400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:39398400-39400200	Enhancers	Brain Substantia Nigra	brain
29	chr14:39398400-39400400	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:39398600-39399600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:39398800-39399800	Enhancers	Brain Angular Gyrus	brain
32	chr14:39398800-39400000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:39398800-39400800	Enhancers	Brain Hippocampus Middle	brain
34	chr14:39399200-39399400	Enhancers	HepG2	liver
35	chr14:39399200-39400400	Enhancers	Fetal Lung	lung
36	chr14:39399600-39401400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr14:39399800-39400200	Weak transcription	Brain Angular Gyrus	brain
38	chr14:39400000-39400200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:39400000-39400600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:39400200-39400400	Enhancers	Brain Angular Gyrus	brain
41	chr14:39400200-39401400	Weak transcription	Brain Substantia Nigra	brain
42	chr14:39400400-39401400	Weak transcription	Brain Angular Gyrus	brain
43	chr14:39400400-39401600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:39400800-39401200	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:39401000-39401200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:39401200-39401400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:39401200-39401600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:39401200-39401800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr14:39401200-39401800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:39401200-39402400	Enhancers	Brain Hippocampus Middle	brain

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