Variant report

Variant	nsv977619
Chromosome Location	chr14:39690884-39697666
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	ATF1	chr14:39692963-39693215	K562	blood:	n/a	n/a
2	CEBPB	chr14:39692848-39693108	IMR90	lung:	n/a	chr14:39692949-39692960
3	CEBPB	chr14:39692808-39693147	K562	blood:	n/a	chr14:39692949-39692960
4	CEBPB	chr14:39692807-39693129	HepG2	liver:	n/a	chr14:39692949-39692960
5	CTCF	chr14:39693090-39693255	MCF-7	breast:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
6	CTCF	chr14:39693125-39693273	MCF-7	breast:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
7	CTCF	chr14:39693160-39693310	HepG2	liver:	n/a	chr14:39693202-39693211
8	CTCF	chr14:39693096-39693214	K562	blood:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
9	CTCF	chr14:39693133-39693215	Hela-S3	cervix:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
10	CTCF	chr14:39693132-39693269	MCF-7	breast:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
11	CTCF	chr14:39693102-39693259	MCF-7	breast:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
12	CTCF	chr14:39693126-39693272	MCF-7	breast:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
13	CTCF	chr14:39693040-39693223	HepG2	liver:	n/a	chr14:39693145-39693166 chr14:39693202-39693211
14	FOS	chr14:39692865-39693128	MCF10A-Er-Src	breast:	n/a	chr14:39692925-39692937 chr14:39692999-39693008
15	FOS	chr14:39692838-39693130	MCF10A-Er-Src	breast:	n/a	chr14:39692925-39692937 chr14:39692999-39693008
16	FOS	chr14:39693397-39693597	MCF10A-Er-Src	breast:	n/a	chr14:39693471-39693478 chr14:39693469-39693479 chr14:39693466-39693477 chr14:39693470-39693478
17	FOS	chr14:39692904-39693142	MCF10A-Er-Src	breast:	n/a	chr14:39692925-39692937 chr14:39692999-39693008
18	JUN	chr14:39693461-39693498	HepG2	liver:	n/a	chr14:39693471-39693478 chr14:39693469-39693479 chr14:39693466-39693477 chr14:39693470-39693478
19	JUN	chr14:39691963-39692228	HepG2	liver:	n/a	chr14:39692090-39692099 chr14:39692089-39692102
20	JUN	chr14:39692831-39693182	HepG2	liver:	n/a	chr14:39692925-39692937 chr14:39692999-39693008 chr14:39692982-39692995 chr14:39692995-39693008
21	JUND	chr14:39691925-39692271	HepG2	liver:	n/a	chr14:39692090-39692099
22	JUND	chr14:39692825-39693612	HepG2	liver:	n/a	chr14:39693471-39693478 chr14:39692925-39692937 chr14:39693469-39693479 chr14:39692999-39693008 chr14:39693466-39693477 chr14:39693470-39693478
23	MAFK	chr14:39697357-39697598	HepG2	liver:	n/a	n/a
24	RAD21	chr14:39692885-39693382	HCT-116	colon:	n/a	chr14:39693148-39693167 chr14:39693074-39693081
25	RAD21	chr14:39692884-39693420	MCF-7	breast:	n/a	chr14:39693148-39693167 chr14:39693074-39693081
26	RAD21	chr14:39692947-39693349	MCF-7	breast:	n/a	chr14:39693148-39693167 chr14:39693074-39693081
27	STAT3	chr14:39693408-39693415	MCF10A-Er-Src	breast:	n/a	n/a
28	TBL1XR1	chr14:39697235-39697314	K562	blood:	n/a	n/a
29	USF2	chr14:39697644-39697840	HepG2	liver:	n/a	n/a
30	ZNF384	chr14:39690891-39691063	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39690148..39692016-chr14:39692891..39694587,2	MCF-7	breast:
2	chr14:39651862..39654641-chr14:39690512..39693459,3	K562	blood:
3	chr14:39581979..39584975-chr14:39691511..39693486,2	MCF-7	breast:
4	chr14:39695180..39697611-chr14:39735676..39737313,2	MCF-7	breast:
5	chr14:39648211..39650713-chr14:39694377..39696720,2	MCF-7	breast:
6	chr14:39639912..39642266-chr14:39694401..39697374,2	K562	blood:
7	chr14:39576686..39577197-chr14:39693179..39693779,2	MCF-7	breast:
8	chr14:39690148..39692016-chr14:39692891..39694587,2	MCF-7	breast:
9	chr14:39687526..39690139-chr14:39695809..39697449,2	MCF-7	breast:
10	chr14:39642456..39648509-chr14:39688590..39693921,7	MCF-7	breast:
11	chr14:39682657..39684941-chr14:39688892..39691527,2	MCF-7	breast:
12	chr14:39655421..39657718-chr14:39690495..39693068,2	K562	blood:

Variant related genes	Relation type
MIA2	TF binding region
ENSG00000100941	chromatin interactions
ENSG00000092208	chromatin interactions
ENSG00000270503	chromatin interactions
ENSG00000259083	chromatin interactions
ENSG00000258940	chromatin interactions
ENSG00000150527	chromatin interactions

Extended variants
information (count: 257 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549195754	chr14:39690892-39690893	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs569523067	chr14:39690951-39690952	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201077947	chr14:39690967-39690968	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs78844262	chr14:39690982-39690983	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs538201207	chr14:39691001-39691002	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs535109662	chr14:39691009-39691010	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs577965177	chr14:39691046-39691047	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs534251452	chr14:39691054-39691055	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145810995	chr14:39691094-39691095	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs574207306	chr14:39691095-39691096	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs542827104	chr14:39691143-39691144	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs562714161	chr14:39691186-39691187	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs372224986	chr14:39691197-39691198	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs35459116	chr14:39691265-39691266	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576283886	chr14:39691317-39691318	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs73275040	chr14:39691318-39691319	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564858260	chr14:39691343-39691344	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs527307333	chr14:39691380-39691381	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs541625266	chr14:39691457-39691458	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs116842101	chr14:39691498-39691499	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs80212596	chr14:39691526-39691527	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs141794734	chr14:39691527-39691528	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs34843498	chr14:39691529-39691530	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs372261263	chr14:39691556-39691557	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538488107	chr14:39691588-39691589	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs75923496	chr14:39691593-39691594	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs10625635	chr14:39691594-39691595	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs193103453	chr14:39691598-39691599	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs571588245	chr14:39691600-39691601	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs534161761	chr14:39691620-39691621	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs184289990	chr14:39691623-39691624	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs34664345	chr14:39691728-39691729	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs34980879	chr14:39691731-39691732	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs536791219	chr14:39691780-39691781	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs147103526	chr14:39691796-39691797	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs17109009	chr14:39691901-39691902	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561619466	chr14:39691902-39691903	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs113354635	chr14:39691913-39691914	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs115846470	chr14:39691949-39691950	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs189241941	chr14:39691953-39691954	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs374479006	chr14:39691992-39691993	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs540610097	chr14:39692009-39692010	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs28502509	chr14:39692017-39692018	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553058028	chr14:39692040-39692041	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529691972	chr14:39692045-39692046	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs28495377	chr14:39692076-39692077	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563062061	chr14:39692077-39692078	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs541954684	chr14:39692098-39692099	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs138541356	chr14:39692120-39692121	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs531831974	chr14:39692166-39692167	Weak transcription	Chromatin interactive region	3 gene(s)	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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39674000-39705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:39688800-39693000	Weak transcription	HepG2	liver
3	chr14:39693000-39693200	Enhancers	HepG2	liver
4	chr14:39693200-39693400	Flanking Active TSS	HepG2	liver
5	chr14:39693400-39694000	Enhancers	HepG2	liver
6	chr14:39694000-39696600	Weak transcription	HepG2	liver
7	chr14:39696400-39698800	Enhancers	Fetal Intestine Large	intestine
8	chr14:39696600-39699200	Enhancers	Fetal Intestine Small	intestine
9	chr14:39696600-39700600	Enhancers	HepG2	liver
10	chr14:39696800-39702400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:39697000-39702600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:39697200-39699000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:39697200-39699400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:39697200-39699400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:39697200-39699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr14:39697200-39699400	Enhancers	NH-A	brain
17	chr14:39697200-39701200	Enhancers	K562	blood
18	chr14:39697400-39698200	Enhancers	Stomach Mucosa	stomach
19	chr14:39697400-39699000	Enhancers	Primary T cells from cord blood	blood
20	chr14:39697400-39699400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:39697400-39699400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:39697400-39699400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr14:39697600-39698200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:39697600-39699200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr14:39697600-39699200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:39697600-39699200	Enhancers	NHEK	skin
27	chr14:39697600-39699800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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