Variant report

Variant	nsv527684
Chromosome Location	chr14:25514126-25518326
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	ARID3A	chr14:25517182-25517745	K562	blood:	n/a	n/a
2	ATF1	chr14:25517415-25517757	K562	blood:	n/a	n/a
3	ATF3	chr14:25517401-25517686	K562	blood:	n/a	n/a
4	BACH1	chr14:25517483-25517764	K562	blood:	n/a	n/a
5	CCNT2	chr14:25516822-25517806	K562	blood:	n/a	n/a
6	CEBPB	chr14:25517347-25517638	K562	blood:	n/a	n/a
7	CEBPD	chr14:25517310-25517711	K562	blood:	n/a	n/a
8	CTBP2	chr14:25517904-25519875	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr14:25517680-25517830	HVMF	connective:	n/a	n/a
10	E2F6	chr14:25517864-25519646	H1-hESC	embryonic stem cell:	n/a	chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519257-25519264 chr14:25518993-25519003 chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519255-25519265 chr14:25519235-25519244 chr14:25519256-25519265 chr14:25519253-25519264 chr14:25519254-25519265
11	E2F6	chr14:25518172-25519570	H1-hESC	embryonic stem cell:	n/a	chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519257-25519264 chr14:25518993-25519003 chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519255-25519265 chr14:25519235-25519244 chr14:25519256-25519265 chr14:25519253-25519264 chr14:25519254-25519265
12	EP300	chr14:25517075-25517748	K562	blood:	n/a	n/a
13	EP300	chr14:25515517-25515897	K562	blood:	n/a	n/a
14	GABPA	chr14:25518283-25518629	H1-hESC	embryonic stem cell:	n/a	n/a
15	GATA1	chr14:25516930-25518012	PBDE	blood:	n/a	chr14:25517202-25517219 chr14:25517163-25517173 chr14:25517158-25517174
16	GATA1	chr14:25516841-25517944	K562	blood:	n/a	chr14:25517202-25517219 chr14:25517163-25517173 chr14:25517158-25517174
17	GATA2	chr14:25517310-25517788	K562	blood:	n/a	n/a
18	GATA2	chr14:25517310-25517738	K562	blood:	n/a	n/a
19	GATA2	chr14:25515455-25515698	K562	blood:	n/a	chr14:25515591-25515612
20	GTF2F1	chr14:25517967-25518055	H1-hESC	embryonic stem cell:	n/a	n/a
21	HMGN3	chr14:25517411-25517790	K562	blood:	n/a	n/a
22	IRF1	chr14:25517528-25517907	K562	blood:	n/a	n/a
23	IRF1	chr14:25517418-25517761	K562	blood:	n/a	chr14:25517459-25517480
24	JUN	chr14:25516951-25517831	K562	blood:	n/a	n/a
25	JUND	chr14:25517229-25517854	K562	blood:	n/a	n/a
26	KAP1	chr14:25517290-25517951	U2OS	brain:	n/a	n/a
27	KAP1	chr14:25517150-25518093	HEK293	kidney:	n/a	n/a
28	MAFF	chr14:25517398-25517740	K562	blood:	n/a	n/a
29	MAFK	chr14:25514262-25514571	HepG2	liver:	n/a	n/a
30	MAFK	chr14:25517405-25517740	K562	blood:	n/a	n/a
31	MAFK	chr14:25517959-25518025	K562	blood:	n/a	n/a
32	MAFK	chr14:25514395-25514424	HepG2	liver:	n/a	n/a
33	MAX	chr14:25518226-25519981	HepG2	liver:	n/a	n/a
34	MAX	chr14:25518177-25518670	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr14:25518134-25519551	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr14:25518128-25519296	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr14:25518219-25519528	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr14:25518123-25519488	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr14:25518249-25519915	HepG2	liver:	n/a	n/a
40	MAZ	chr14:25517460-25517725	K562	blood:	n/a	n/a
41	MYC	chr14:25517200-25517278	K562	blood:	n/a	n/a
42	MYC	chr14:25517368-25517846	K562	blood:	n/a	n/a
43	NFIC	chr14:25517605-25518107	ECC-1	luminal epithelium:	n/a	n/a
44	NFIC	chr14:25517495-25518188	ECC-1	luminal epithelium:	n/a	n/a
45	NR2F2	chr14:25517341-25517737	K562	blood:	n/a	n/a
46	POLR2A	chr14:25517749-25518771	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr14:25514367-25514474	MCF10A-Er-Src	breast:	n/a	n/a
48	RAD21	chr14:25517503-25518112	IMR90	lung:	n/a	n/a
49	RCOR1	chr14:25516976-25517952	K562	blood:	n/a	n/a
50	RCOR1	chr14:25517425-25517697	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:25517974-25518024	HCT-116	colon:	n/a
2	chr14:25517974-25518024	HCT-116	colon:	n/a
3	chr14:25516343-25516393	AG09309	skin:	n/a
4	chr14:25517974-25518024	HUVEC	blood vessel:	n/a
5	chr14:25517974-25518024	SAEC	small airway:	n/a
6	chr14:25517974-25518024	Hela-S3	cervix:	n/a
7	chr14:25516343-25516393	NHDF-neo	bronchial:	n/a
8	chr14:25517974-25518024	PrEC	prostate:	n/a
9	chr14:25516343-25516393	SKMC	muscle:	n/a
10	chr14:25516343-25516393	T-47D	breast:	n/a
11	chr14:25516343-25516393	MCF-7	breast:	n/a
12	chr14:25516343-25516393	GM06990	blood:	n/a
13	chr14:25516343-25516393	SK-N-SH	brain:	n/a
14	chr14:25516343-25516393	AG04450	lung:	fetal
15	chr14:25517974-25518024	RPTEC	kidney:	n/a
16	chr14:25517974-25518024	AG09319	gingival:	n/a
17	chr14:25517974-25518024	BJ	skin:	n/a
18	chr14:25517974-25518024	MCF10A-Er-Src	breast:	n/a
19	chr14:25517974-25518024	HAEpiC	amniotic membrane:	n/a
20	chr14:25517974-25518024	GM12878	blood:	n/a
21	chr14:25516343-25516393	HRE	kidney:	n/a
22	chr14:25517974-25518024	NH-A	brain:	n/a
23	chr14:25517974-25518024	HNPCEpiC	eye:	n/a
24	chr14:25517974-25518024	NHBE	bronchial:	n/a
25	chr14:25516343-25516393	GM19239	blood:	n/a
26	chr14:25517974-25518024	U87	brain:	n/a
27	chr14:25516343-25516393	K562	blood:	n/a
28	chr14:25516343-25516393	PFSK-1	brain:	n/a
29	chr14:25516343-25516393	NB4	blood:	n/a
30	chr14:25517974-25518024	HIPEpiC	eye:	n/a
31	chr14:25516343-25516393	PANC-1	pancreas:	n/a
32	chr14:25516343-25516393	AG09319	gingival:	n/a
33	chr14:25516343-25516393	ovcar-3	ovarian:	n/a
34	chr14:25517974-25518024	AG04450	lung:	fetal
35	chr14:25516343-25516393	HEK293	kidney:	embryo
36	chr14:25516343-25516393	RPTEC	kidney:	n/a
37	chr14:25517974-25518024	HepG2	liver:	n/a
38	chr14:25516343-25516393	AoSMC	blood vessel:	n/a
39	chr14:25517974-25518024	H1-hESC	embryonic stem cell:	embryo
40	chr14:25517974-25518024	Hepatocyte	liver:	n/a
41	chr14:25517974-25518024	Caco-2	colon:	n/a
42	chr14:25517974-25518024	NHDF-neo	bronchial:	n/a
43	chr14:25516343-25516393	HRPEpiC	eye:	n/a
44	chr14:25516343-25516393	NHBE	bronchial:	n/a
45	chr14:25516343-25516393	CMK	blood:	n/a
46	chr14:25516343-25516393	SK-N-MC	brain:	n/a
47	chr14:25517974-25518024	SKMC	muscle:	n/a
48	chr14:25516343-25516393	NH-A	brain:	n/a
49	chr14:25517974-25518024	SK-N-SH	brain:	n/a
50	chr14:25517974-25518024	NB4	blood:	n/a

Variant related genes	Relation type
STXBP6	TF binding region
STXBP6	CpG island

Extended variants
information (count: 136 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17257780	chr14:25514126-25514127	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs386775751	chr14:25514165-25514166	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79158371	chr14:25514166-25514167	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144702304	chr14:25514177-25514178	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183417711	chr14:25514194-25514195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374937342	chr14:25514393-25514394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17109537	chr14:25514408-25514409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76222790	chr14:25514506-25514507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148057001	chr14:25514528-25514529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553374439	chr14:25514582-25514583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532225540	chr14:25514602-25514603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187717403	chr14:25514614-25514615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568993987	chr14:25514615-25514616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11626133	chr14:25514645-25514646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190656397	chr14:25514652-25514653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568339855	chr14:25514712-25514713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183036295	chr14:25514714-25514715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs5807272	chr14:25514764-25514765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397853032	chr14:25514773-25514774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs5807274	chr14:25514797-25514798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200296496	chr14:25514806-25514807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201629992	chr14:25514810-25514811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111555449	chr14:25514811-25514812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559639846	chr14:25514812-25514813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10145985	chr14:25514816-25514817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs397700377	chr14:25514826-25514827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368043490	chr14:25514828-25514829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545979542	chr14:25514837-25514838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372569436	chr14:25514867-25514868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2003997	chr14:25514872-25514873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575351601	chr14:25514879-25514880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544186995	chr14:25514913-25514914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560978163	chr14:25514934-25514935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553278796	chr14:25514980-25514981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188437672	chr14:25514987-25514988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142810895	chr14:25514993-25514994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576560213	chr14:25515071-25515072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111587726	chr14:25515078-25515079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2007289	chr14:25515079-25515080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531462053	chr14:25515100-25515101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573479733	chr14:25515189-25515190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548201492	chr14:25515194-25515195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568002379	chr14:25515245-25515246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533790096	chr14:25515256-25515257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547326463	chr14:25515352-25515353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192665763	chr14:25515354-25515355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539226490	chr14:25515364-25515365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112411293	chr14:25515368-25515369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144910907	chr14:25515426-25515427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563742991	chr14:25515493-25515494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
2	chr14:25497200-25515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:25503800-25515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:25510000-25515800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:25510800-25514200	Enhancers	Brain Hippocampus Middle	brain
6	chr14:25510800-25514400	Enhancers	Brain Substantia Nigra	brain
7	chr14:25511000-25514200	Genic enhancers	Fetal Lung	lung
8	chr14:25511000-25517400	Weak transcription	HSMMtube	muscle
9	chr14:25511800-25515600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:25511800-25515800	Weak transcription	Gastric	stomach
11	chr14:25511800-25517400	Weak transcription	Fetal Brain Male	brain
12	chr14:25512000-25515400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:25512000-25515800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:25512000-25517000	Weak transcription	Fetal Intestine Large	intestine
15	chr14:25512200-25515200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:25512200-25515800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:25512200-25517200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:25512200-25517200	Weak transcription	Stomach Mucosa	stomach
19	chr14:25512400-25515600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:25512400-25516000	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:25512400-25516800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:25512400-25517200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:25512400-25517400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:25512600-25515600	Weak transcription	HepG2	liver
25	chr14:25512600-25515800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:25512600-25517600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:25512800-25514200	Enhancers	HSMM	muscle
28	chr14:25513000-25515200	Weak transcription	Fetal Heart	heart
29	chr14:25513000-25516800	Weak transcription	NHLF	lung
30	chr14:25513000-25517200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:25513000-25517600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:25513800-25517200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:25513800-25517400	Weak transcription	Right Atrium	heart
34	chr14:25514000-25514600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:25514000-25515400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:25514000-25515600	Weak transcription	Placenta	Placenta
37	chr14:25514000-25515600	Weak transcription	Right Ventricle	heart
38	chr14:25514000-25515800	Weak transcription	Brain Angular Gyrus	brain
39	chr14:25514000-25515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:25514000-25515800	Weak transcription	Fetal Intestine Small	intestine
41	chr14:25514000-25515800	Weak transcription	Left Ventricle	heart
42	chr14:25514000-25515800	Weak transcription	Pancreas	Pancrea
43	chr14:25514000-25517600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:25514200-25515200	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:25514200-25515600	Weak transcription	Fetal Lung	lung
46	chr14:25514200-25515600	Weak transcription	HSMM	muscle
47	chr14:25514400-25515800	Weak transcription	Brain Substantia Nigra	brain
48	chr14:25514600-25514800	Enhancers	Brain Anterior Caudate	brain
49	chr14:25514800-25515600	Weak transcription	Brain Anterior Caudate	brain
50	chr14:25515200-25515400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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