Variant report

Variant	esv3322576
Chromosome Location	chr14:55346802-55348400
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	ATF2	chr14:55347965-55348455	GM12878	blood:	n/a	n/a
2	ATF2	chr14:55348036-55348807	GM12878	blood:	n/a	n/a
3	BATF	chr14:55347981-55348418	GM12878	blood:	n/a	n/a
4	BATF	chr14:55347926-55348447	GM12878	blood:	n/a	n/a
5	BCLAF1	chr14:55347924-55348724	GM12878	blood:	n/a	chr14:55348195-55348204
6	BCLAF1	chr14:55347970-55348963	GM12878	blood:	n/a	chr14:55348195-55348204 chr14:55348801-55348810
7	CTCF	chr14:55348078-55348384	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr14:55348200-55348350	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr14:55348300-55348450	AG09309	skin:	n/a	n/a
10	CTCF	chr14:55348329-55348424	ProgFib	skin:	n/a	n/a
11	CTCF	chr14:55348140-55348290	RPTEC	kidney:	n/a	n/a
12	CTCF	chr14:55348320-55348470	AG09319	gingival:	n/a	n/a
13	CTCF	chr14:55348220-55348370	SAEC	small airway:	n/a	n/a
14	CTCF	chr14:55348220-55348370	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr14:55348280-55348430	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr14:55348336-55348382	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr14:55348260-55348410	AG10803	skin:	n/a	n/a
18	CTCF	chr14:55347940-55348090	GM12872	blood:	n/a	n/a
19	CTCF	chr14:55348320-55348470	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr14:55348260-55348410	BJ	skin:	n/a	n/a
21	CTCF	chr14:55348320-55348470	GM12873	blood:	n/a	n/a
22	CTCF	chr14:55348300-55348330	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr14:55348300-55348450	AG09319	gingival:	n/a	n/a
24	CTCF	chr14:55347920-55348070	HMEC	breast:	n/a	n/a
25	CTCF	chr14:55348021-55348032	GM19239	blood:	n/a	n/a
26	CTCF	chr14:55348160-55348310	BE2_C	brain:	n/a	n/a
27	CTCF	chr14:55348260-55348410	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr14:55348240-55348390	HCFaa	heart:	n/a	n/a
29	CTCF	chr14:55348320-55348470	BE2_C	brain:	n/a	n/a
30	CTCF	chr14:55348382-55348389	GM12878	blood:	n/a	n/a
31	CTCF	chr14:55348240-55348390	NHDF-neo	bronchial:	n/a	n/a
32	CTCF	chr14:55348200-55348350	HCM	heart:	n/a	n/a
33	CTCF	chr14:55348240-55348390	GM06990	blood:	n/a	n/a
34	CTCF	chr14:55348324-55348425	Fibrobl	skin:	n/a	n/a
35	CTCF	chr14:55348380-55348530	HCM	heart:	n/a	n/a
36	CTCF	chr14:55348300-55348450	BJ	skin:	n/a	n/a
37	CTCF	chr14:55348040-55348190	GM06990	blood:	n/a	n/a
38	CTCF	chr14:55348014-55348103	GM12878	blood:	n/a	n/a
39	CTCF	chr14:55347911-55348456	GM12878	blood:	n/a	n/a
40	E2F4	chr14:55348220-55348483	MCF10A-Er-Src	breast:	n/a	n/a
41	EBF1	chr14:55348030-55348781	GM12878	blood:	n/a	n/a
42	EBF1	chr14:55347926-55348182	GM12878	blood:	n/a	n/a
43	EP300	chr14:55347820-55350131	SK-N-SH	brain:	n/a	chr14:55348166-55348180 chr14:55348796-55348810 chr14:55348744-55348752
44	EP300	chr14:55347996-55348597	GM12878	blood:	n/a	chr14:55348166-55348180
45	FOS	chr14:55348213-55348362	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr14:55348150-55348336	MCF10A-Er-Src	breast:	n/a	chr14:55348201-55348213
47	FOXM1	chr14:55347808-55348331	GM12878	blood:	n/a	n/a
48	FOXM1	chr14:55347932-55348410	GM12878	blood:	n/a	n/a
49	GATA1	chr14:55348381-55349698	PBDE	blood:	n/a	chr14:55349576-55349589 chr14:55349578-55349588 chr14:55349573-55349594 chr14:55349578-55349587 chr14:55349575-55349591 chr14:55349580-55349587
50	IKZF1	chr14:55347994-55348296	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55343213..55346860-chr14:55368496..55370471,3	MCF-7	breast:
2	chr14:55348331..55350043-chr14:55361093..55363707,2	K562	blood:
3	chr14:55343813..55346930-chr14:55349782..55354238,4	MCF-7	breast:

Variant related genes	Relation type
MIR4308	TF binding region
ENSG00000131979	chromatin interactions
ENSG00000258872	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548877874	chr14:55346839-55346840	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs58085261	chr14:55346858-55346859	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567429248	chr14:55346860-55346861	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs397956284	chr14:55346869-55346870	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149918054	chr14:55346893-55346894	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189224386	chr14:55346898-55346899	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556185135	chr14:55346904-55346905	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577605720	chr14:55346909-55346910	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369124329	chr14:55346917-55346918	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145012097	chr14:55346967-55346968	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554421776	chr14:55347133-55347134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368592440	chr14:55347141-55347142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371417703	chr14:55347146-55347147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34635384	chr14:55347150-55347151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71131237	chr14:55347161-55347162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148945540	chr14:55347172-55347173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181938889	chr14:55347178-55347179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72187597	chr14:55347184-55347185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374740127	chr14:55347186-55347187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371292067	chr14:55347194-55347195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374966175	chr14:55347196-55347197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538834839	chr14:55347231-55347232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200255096	chr14:55347237-55347238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371620366	chr14:55347247-55347248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35600814	chr14:55347256-55347257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369583451	chr14:55347258-55347259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375255418	chr14:55347281-55347282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369550067	chr14:55347287-55347288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374013163	chr14:55347302-55347303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375784914	chr14:55347316-55347317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371584648	chr14:55347326-55347327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369206090	chr14:55347330-55347331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373052454	chr14:55347349-55347350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376497095	chr14:55347358-55347359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201012984	chr14:55347360-55347361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186582060	chr14:55347361-55347362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553056236	chr14:55347378-55347379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71131239	chr14:55347410-55347411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369152097	chr14:55347411-55347412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544952183	chr14:55347436-55347437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs36150047	chr14:55347438-55347439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377389668	chr14:55347440-55347441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369512326	chr14:55347453-55347454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374523043	chr14:55347454-55347455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377753690	chr14:55347456-55347457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369846462	chr14:55347457-55347458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373457773	chr14:55347458-55347459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373638352	chr14:55347473-55347474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377378934	chr14:55347474-55347475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556882679	chr14:55347509-55347510	Weak transcription Enhancers	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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55329400-55347800	Weak transcription	Primary B cells from cord blood	blood
2	chr14:55330800-55347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:55331800-55347600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr14:55337400-55347800	Weak transcription	HSMMtube	muscle
5	chr14:55337600-55348600	Weak transcription	Hela-S3	cervix
6	chr14:55343800-55347800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55343800-55348200	Weak transcription	Fetal Intestine Large	intestine
8	chr14:55344000-55347800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:55344200-55347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:55344400-55347800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:55345000-55347600	Weak transcription	HUVEC	blood vessel
12	chr14:55345000-55348000	Weak transcription	HepG2	liver
13	chr14:55345400-55347800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr14:55345400-55347800	Weak transcription	GM12878-XiMat	blood
15	chr14:55345400-55348200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:55345400-55354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:55345600-55347800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr14:55345600-55348000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:55345600-55348000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:55345800-55347800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:55346000-55347000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:55346000-55347800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:55346200-55347000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:55346200-55347000	Active TSS	Duodenum Mucosa	Duodenum
26	chr14:55346200-55347200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:55346200-55347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:55346200-55347800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr14:55346200-55348000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:55346400-55347000	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:55346400-55347600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr14:55346400-55347600	Enhancers	Dnd41	blood
33	chr14:55346600-55347000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:55346600-55347600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:55346600-55347600	Enhancers	Liver	Liver
36	chr14:55346600-55347600	Weak transcription	Placenta	Placenta
37	chr14:55346600-55347600	Weak transcription	Psoas Muscle	Psoas
38	chr14:55346600-55347600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:55346600-55347800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:55346600-55347800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:55346600-55348000	Weak transcription	Fetal Intestine Small	intestine
42	chr14:55346600-55348000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:55346800-55347000	Enhancers	Primary T cells from cord blood	blood
44	chr14:55346800-55347000	Enhancers	Fetal Lung	lung
45	chr14:55347000-55347400	Weak transcription	Primary T cells from cord blood	blood
46	chr14:55347000-55347800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr14:55347000-55347800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr14:55347000-55348000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:55347000-55348000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:55347000-55348000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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