Variant report

Variant	esv3530979
Chromosome Location	chr14:35609801-35615799
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	chr14:35613218-35613555	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:35609838-35610282	HepG2	liver:	n/a	n/a
3	BRCA1	chr14:35613335-35613393	GM12878	blood:	n/a	n/a
4	CEBPB	chr14:35612292-35612467	HepG2	liver:	n/a	chr14:35612414-35612425
5	CEBPB	chr14:35612279-35612564	HepG2	liver:	n/a	chr14:35612414-35612425
6	CEBPB	chr14:35613295-35613593	HepG2	liver:	n/a	n/a
7	CHD2	chr14:35613402-35613558	GM12878	blood:	n/a	n/a
8	CTCF	chr14:35609963-35610210	HepG2	liver:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
9	CTCF	chr14:35610040-35610190	HCFaa	heart:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
10	CTCF	chr14:35609759-35610458	HepG2	liver:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
11	CTCF	chr14:35609953-35610237	HUVEC	blood vessel:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
12	CTCF	chr14:35610060-35610210	BE2_C	brain:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
13	CTCF	chr14:35609950-35610327	HCT-116	colon:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
14	CTCF	chr14:35610000-35610150	NHDF-neo	bronchial:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
15	CTCF	chr14:35609940-35610090	GM12873	blood:	n/a	n/a
16	CTCF	chr14:35610031-35610194	GM12878	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
17	CTCF	chr14:35610051-35610190	Hela-S3	cervix:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
18	CTCF	chr14:35609980-35610130	GM12864	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
19	CTCF	chr14:35610040-35610190	HA-sp	spinal cord:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
20	CTCF	chr14:35610040-35610190	HPAF	blood vessel:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
21	CTCF	chr14:35610020-35610170	AG09319	gingival:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
22	CTCF	chr14:35610065-35610168	GM13976	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
23	CTCF	chr14:35609900-35610373	GM12878	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
24	CTCF	chr14:35609980-35610130	GM06990	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
25	CTCF	chr14:35609857-35610436	IMR90	lung:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
26	CTCF	chr14:35610000-35610150	HEEpiC	esophagus:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
27	CTCF	chr14:35610040-35610190	WI-38	lung:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
28	CTCF	chr14:35610040-35610190	HPF	lung:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
29	CTCF	chr14:35610020-35610170	HVMF	connective:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
30	CTCF	chr14:35609900-35610050	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr14:35609955-35610239	Spleen_OC	spleen:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
32	CTCF	chr14:35610060-35610210	GM12864	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
33	CTCF	chr14:35610000-35610150	SK-N-SH_RA	brain:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
34	CTCF	chr14:35610040-35610190	HFF-Myc	foreskin:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
35	CTCF	chr14:35610043-35610153	GM10248	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
36	CTCF	chr14:35609980-35610130	AG04449	skin:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
37	CTCF	chr14:35610020-35610170	AoAF	blood vessel:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
38	CTCF	chr14:35610020-35610170	AG10803	skin:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
39	CTCF	chr14:35610000-35610150	GM12873	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
40	CTCF	chr14:35610040-35610190	RPTEC	kidney:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
41	CTCF	chr14:35610000-35610150	GM12868	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
42	CTCF	chr14:35610080-35610230	HUVEC	blood vessel:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
43	CTCF	chr14:35609921-35610231	H1-hESC	embryonic stem cell:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
44	CTCF	chr14:35610060-35610210	HCM	heart:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
45	CTCF	chr14:35610039-35610198	GM13977	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
46	CTCF	chr14:35610029-35610031	LNCaP	prostate:	n/a	n/a
47	CTCF	chr14:35610049-35610175	GM10266	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
48	CTCF	chr14:35610100-35610250	HCM	heart:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
49	CTCF	chr14:35609735-35610610	SK-N-SH	brain:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
50	CTCF	chr14:35609960-35610110	GM12865	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35607146..35612253-chr14:35870483..35876264,6	MCF-7	breast:
2	chr14:35610882..35612765-chr14:35874078..35876845,2	MCF-7	breast:
3	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
4	chr14:35604060..35606513-chr14:35608346..35611320,2	K562	blood:
5	chr14:35609923..35610592-chr14:35882131..35883118,2	K562	blood:
6	chr14:35591519..35595247-chr14:35614813..35617284,3	MCF-7	breast:
7	chr14:35610009..35610550-chr14:36156270..36157192,2	K562	blood:
8	chr14:35614979..35617041-chr14:35619996..35622805,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R3C-1	chr14:35613227-35613686	NONHSAT036366

Variant related genes	Relation type
ENSG00000241052	TF binding region
ENSG00000258790	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000100890	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112031438	chr14:35609805-35609806	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576827963	chr14:35609950-35609951	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372689791	chr14:35609958-35609959	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189132216	chr14:35609966-35609967	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12888766	chr14:35609980-35609981	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs571912755	chr14:35609995-35609996	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs80174375	chr14:35610037-35610038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554260290	chr14:35610141-35610142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573759647	chr14:35610144-35610145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113407471	chr14:35610283-35610284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542619280	chr14:35610303-35610304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562493120	chr14:35610366-35610367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548357155	chr14:35610427-35610428	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11623118	chr14:35610437-35610438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs560621507	chr14:35610458-35610459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs200886389	chr14:35610479-35610480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141985553	chr14:35610499-35610500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565420890	chr14:35610502-35610503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs193125226	chr14:35610634-35610635	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530572033	chr14:35610661-35610662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539169312	chr14:35610663-35610664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376932601	chr14:35610689-35610690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570405031	chr14:35610725-35610726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541232340	chr14:35610777-35610778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs72314033	chr14:35610831-35610832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10546203	chr14:35610836-35610837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560298837	chr14:35610860-35610861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185625211	chr14:35610866-35610867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549097196	chr14:35610877-35610878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534630213	chr14:35610899-35610900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146116667	chr14:35610908-35610909	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531190785	chr14:35610931-35610932	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75317802	chr14:35610942-35610943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551681985	chr14:35610944-35610945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571423499	chr14:35610956-35610957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546895712	chr14:35610970-35610971	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534004520	chr14:35611015-35611016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553507545	chr14:35611066-35611067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567423042	chr14:35611165-35611166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536391011	chr14:35611183-35611184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138625354	chr14:35611235-35611236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs8019445	chr14:35611240-35611241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545049386	chr14:35611241-35611242	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112594986	chr14:35611288-35611289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559219315	chr14:35611304-35611305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572611996	chr14:35611321-35611322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541617534	chr14:35611328-35611329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561513942	chr14:35611329-35611330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530305762	chr14:35611345-35611346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113739120	chr14:35611362-35611363	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
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
Esophageal cancer	20955586	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
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35592600-35625200	Weak transcription	Small Intestine	intestine
2	chr14:35592800-35611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:35593000-35610200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:35593000-35613400	Weak transcription	Stomach Mucosa	stomach
5	chr14:35593000-35638200	Weak transcription	Fetal Brain Male	brain
6	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:35593200-35625200	Weak transcription	NH-A	brain
8	chr14:35593200-35625600	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:35593200-35627800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:35593200-35635400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:35593400-35613200	Weak transcription	Osteobl	bone
12	chr14:35593400-35617200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:35594000-35615800	Weak transcription	HUVEC	blood vessel
14	chr14:35594400-35629000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:35595200-35613200	Weak transcription	K562	blood
16	chr14:35596000-35623600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:35597400-35625000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:35597600-35625000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:35597800-35615400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:35603000-35625200	Weak transcription	HSMM	muscle
21	chr14:35603200-35623200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:35603200-35663400	Weak transcription	Fetal Lung	lung
23	chr14:35603400-35625200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:35603600-35621600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:35604000-35624400	Weak transcription	NHEK	skin
26	chr14:35604200-35611400	Weak transcription	Dnd41	blood
27	chr14:35604200-35613000	Weak transcription	Brain Germinal Matrix	brain
28	chr14:35604200-35613800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:35604200-35615200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:35604200-35623200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:35604200-35625200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:35604200-35625200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:35604200-35628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:35604200-35651400	Weak transcription	Esophagus	oesophagus
35	chr14:35604400-35611400	Weak transcription	Right Ventricle	heart
36	chr14:35604400-35611600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:35604400-35613200	Weak transcription	Gastric	stomach
38	chr14:35604400-35616000	Weak transcription	Pancreas	Pancrea
39	chr14:35604400-35621800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:35604400-35623200	Weak transcription	A549	lung
41	chr14:35604400-35625200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:35604400-35625200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:35604400-35642000	Weak transcription	Lung	lung
44	chr14:35604400-35651800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:35604400-35660200	Weak transcription	Aorta	Aorta
46	chr14:35604600-35615400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:35604600-35620600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:35604600-35625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:35604600-35625200	Weak transcription	Adipose Nuclei	Adipose
50	chr14:35604600-35626000	Weak transcription	Placenta	Placenta

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