Variant report

Variant	esv3436773
Chromosome Location	chr14:32951401-32955599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:32953383-32953584	K562	blood:	n/a	n/a
2	BATF	chr14:32953354-32954358	GM12878	blood:	n/a	n/a
3	BATF	chr14:32953337-32954435	GM12878	blood:	n/a	n/a
4	BCL11A	chr14:32953284-32954370	GM12878	blood:	n/a	n/a
5	BCL11A	chr14:32953360-32954352	GM12878	blood:	n/a	n/a
6	BHLHE40	chr14:32953211-32953584	K562	blood:	n/a	n/a
7	BHLHE40	chr14:32953340-32954372	HepG2	liver:	n/a	n/a
8	CEBPD	chr14:32953319-32954531	K562	blood:	n/a	n/a
9	CHD2	chr14:32953383-32953583	K562	blood:	n/a	n/a
10	CTCF	chr14:32953952-32954359	K562	blood:	n/a	n/a
11	CTCF	chr14:32953210-32953585	K562	blood:	n/a	n/a
12	CTCF	chr14:32951380-32951530	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:32954017-32954168	K562	blood:	n/a	n/a
14	CTCF	chr14:32954209-32954344	K562	blood:	n/a	n/a
15	CTCF	chr14:32953349-32954362	A549	lung:	n/a	n/a
16	CTCF	chr14:32954467-32954538	Lung_OC	lung:	n/a	n/a
17	CUX1	chr14:32953211-32953584	K562	blood:	n/a	n/a
18	EBF1	chr14:32953332-32954427	GM12878	blood:	n/a	n/a
19	EBF1	chr14:32953350-32954461	GM12878	blood:	n/a	n/a
20	ELK1	chr14:32953210-32953584	K562	blood:	n/a	n/a
21	EP300	chr14:32951502-32951864	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr14:32953344-32953950	GM12878	blood:	n/a	chr14:32953506-32953514 chr14:32953640-32953649
23	EP300	chr14:32954173-32954421	GM12878	blood:	n/a	n/a
24	EP300	chr14:32953955-32954166	GM12878	blood:	n/a	n/a
25	EP300	chr14:32953259-32954374	GM12878	blood:	n/a	chr14:32953506-32953514 chr14:32953640-32953649
26	FOSL2	chr14:32953346-32954366	HepG2	liver:	n/a	n/a
27	FOSL2	chr14:32953316-32954396	HepG2	liver:	n/a	n/a
28	FOXA1	chr14:32953647-32954387	HepG2	liver:	n/a	n/a
29	FOXM1	chr14:32953224-32954591	GM12878	blood:	n/a	n/a
30	FOXP2	chr14:32953314-32954366	PFSK-1	brain:	n/a	n/a
31	FOXP2	chr14:32953385-32954380	SK-N-MC	brain:	n/a	n/a
32	GABPA	chr14:32953350-32954362	Hela-S3	cervix:	n/a	n/a
33	GABPA	chr14:32953695-32953890	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr14:32954199-32954331	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr14:32953906-32954152	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr14:32953537-32953688	Hela-S3	cervix:	n/a	n/a
37	GATA2	chr14:32953381-32954470	K562	blood:	n/a	chr14:32954158-32954168
38	GTF2F1	chr14:32953212-32953584	K562	blood:	n/a	n/a
39	HCFC1	chr14:32953383-32953583	K562	blood:	n/a	n/a
40	HEY1	chr14:32953696-32953896	HepG2	liver:	n/a	n/a
41	HEY1	chr14:32953385-32953518	HepG2	liver:	n/a	n/a
42	HEY1	chr14:32953531-32953689	HepG2	liver:	n/a	n/a
43	HEY1	chr14:32953900-32954158	HepG2	liver:	n/a	n/a
44	HEY1	chr14:32954192-32954408	HepG2	liver:	n/a	n/a
45	HEY1	chr14:32953258-32954374	HepG2	liver:	n/a	n/a
46	HEY1	chr14:32953345-32954466	K562	blood:	n/a	n/a
47	IRF4	chr14:32953309-32954396	GM12878	blood:	n/a	n/a
48	IRF4	chr14:32953311-32954488	GM12878	blood:	n/a	n/a
49	JUND	chr14:32953535-32953689	HepG2	liver:	n/a	n/a
50	JUND	chr14:32953903-32954154	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32942791..32945014-chr14:32949857..32951632,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259045	TF binding region
ENSG00000151320	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11156749	chr14:32951402-32951403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73267324	chr14:32951415-32951416	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530179223	chr14:32951442-32951443	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568391005	chr14:32951487-32951488	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1951199	chr14:32951507-32951508	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546899381	chr14:32951542-32951543	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1957032	chr14:32951556-32951557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147611972	chr14:32951574-32951575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138517067	chr14:32951615-32951616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191266017	chr14:32951631-32951632	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534311073	chr14:32951661-32951662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561142943	chr14:32951670-32951671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140219110	chr14:32951699-32951700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200425198	chr14:32951706-32951707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574536213	chr14:32951732-32951733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1957033	chr14:32951770-32951771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538477360	chr14:32951807-32951808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145363202	chr14:32951814-32951815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537502677	chr14:32951827-32951828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576580700	chr14:32951828-32951829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs137913889	chr14:32951845-32951846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142564883	chr14:32951874-32951875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183624176	chr14:32951947-32951948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76479911	chr14:32951965-32951966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559326249	chr14:32951988-32951989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150560765	chr14:32951992-32951993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4981972	chr14:32952020-32952021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190464272	chr14:32952155-32952156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10141644	chr14:32952173-32952174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10141462	chr14:32952179-32952180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374495968	chr14:32952180-32952181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143964297	chr14:32952190-32952191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28580585	chr14:32952191-32952192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71407702	chr14:32952193-32952194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71409503	chr14:32952195-32952196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199759517	chr14:32952196-32952197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563470116	chr14:32952215-32952216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145844305	chr14:32952217-32952218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72667925	chr14:32952247-32952248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570648406	chr14:32952248-32952249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1957034	chr14:32952261-32952262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182175740	chr14:32952274-32952275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1957035	chr14:32952284-32952285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186863593	chr14:32952288-32952289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1957036	chr14:32952320-32952321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375798976	chr14:32952341-32952342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138669102	chr14:32952352-32952353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4296166	chr14:32952367-32952368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs537140475	chr14:32952401-32952402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372762688	chr14:32952430-32952431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
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
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
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32947600-32962200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:32947800-32960600	Weak transcription	Fetal Brain Male	brain
3	chr14:32947800-32963400	Weak transcription	Right Atrium	heart
4	chr14:32950400-32951800	Enhancers	Brain Hippocampus Middle	brain
5	chr14:32950800-32951600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:32950800-32951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:32950800-32951600	Enhancers	Brain Anterior Caudate	brain
8	chr14:32950800-32951600	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:32950800-32960600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:32951000-32951600	Enhancers	Brain Angular Gyrus	brain
11	chr14:32951000-32951600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:32951000-32951600	Enhancers	Brain Substantia Nigra	brain
13	chr14:32951000-32951600	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:32951000-32952000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:32951200-32951800	Enhancers	HUVEC	blood vessel
16	chr14:32951400-32951600	Weak transcription	Aorta	Aorta
17	chr14:32951400-32951800	Enhancers	Fetal Heart	heart
18	chr14:32951400-32951800	Enhancers	HSMMtube	muscle
19	chr14:32951400-32952000	Enhancers	Colon Smooth Muscle	Colon
20	chr14:32951400-32960600	Weak transcription	Left Ventricle	heart
21	chr14:32951600-32952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:32951600-32957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:32951600-32960600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:32951800-32960200	Weak transcription	Fetal Heart	heart

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