Variant report

Variant	esv1006050
Chromosome Location	chr14:32950054-32958354
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	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	chr14:32953360-32954352	GM12878	blood:	n/a	n/a
5	BCL11A	chr14:32953284-32954370	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	chr14:32954209-32954344	K562	blood:	n/a	n/a
11	CTCF	chr14:32953349-32954362	A549	lung:	n/a	n/a
12	CTCF	chr14:32953210-32953585	K562	blood:	n/a	n/a
13	CTCF	chr14:32954467-32954538	Lung_OC	lung:	n/a	n/a
14	CTCF	chr14:32954017-32954168	K562	blood:	n/a	n/a
15	CTCF	chr14:32953952-32954359	K562	blood:	n/a	n/a
16	CTCF	chr14:32951380-32951530	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:32949920-32950070	AG10803	skin:	n/a	n/a
18	CUX1	chr14:32953211-32953584	K562	blood:	n/a	n/a
19	EBF1	chr14:32953332-32954427	GM12878	blood:	n/a	n/a
20	EBF1	chr14:32953350-32954461	GM12878	blood:	n/a	n/a
21	ELK1	chr14:32953210-32953584	K562	blood:	n/a	n/a
22	EP300	chr14:32949353-32950076	SK-N-SH	brain:	n/a	chr14:32949744-32949753 chr14:32949743-32949752
23	EP300	chr14:32953259-32954374	GM12878	blood:	n/a	chr14:32953506-32953514 chr14:32953640-32953649
24	EP300	chr14:32953344-32953950	GM12878	blood:	n/a	chr14:32953506-32953514 chr14:32953640-32953649
25	EP300	chr14:32953955-32954166	GM12878	blood:	n/a	n/a
26	EP300	chr14:32951502-32951864	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr14:32954173-32954421	GM12878	blood:	n/a	n/a
28	FOSL2	chr14:32953346-32954366	HepG2	liver:	n/a	n/a
29	FOSL2	chr14:32953316-32954396	HepG2	liver:	n/a	n/a
30	FOXA1	chr14:32953647-32954387	HepG2	liver:	n/a	n/a
31	FOXA1	chr14:32950787-32951034	T-47D	breast:	n/a	chr14:32950950-32950965
32	FOXA1	chr14:32957388-32957627	HepG2	liver:	n/a	n/a
33	FOXA2	chr14:32957382-32957779	A549	lung:	n/a	n/a
34	FOXM1	chr14:32949527-32950088	SK-N-SH	brain:	n/a	n/a
35	FOXM1	chr14:32953224-32954591	GM12878	blood:	n/a	n/a
36	FOXP2	chr14:32953385-32954380	SK-N-MC	brain:	n/a	n/a
37	FOXP2	chr14:32953314-32954366	PFSK-1	brain:	n/a	n/a
38	GABPA	chr14:32953695-32953890	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr14:32953537-32953688	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr14:32953906-32954152	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr14:32953350-32954362	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr14:32954199-32954331	Hela-S3	cervix:	n/a	n/a
43	GATA2	chr14:32953381-32954470	K562	blood:	n/a	chr14:32954158-32954168
44	GATA3	chr14:32949451-32950112	SK-N-SH	brain:	n/a	chr14:32949745-32949754
45	GATA3	chr14:32949434-32950229	SK-N-SH	brain:	n/a	chr14:32949745-32949754
46	GTF2F1	chr14:32953212-32953584	K562	blood:	n/a	n/a
47	HCFC1	chr14:32953383-32953583	K562	blood:	n/a	n/a
48	HEY1	chr14:32953258-32954374	HepG2	liver:	n/a	n/a
49	HEY1	chr14:32953531-32953689	HepG2	liver:	n/a	n/a
50	HEY1	chr14:32953385-32953518	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32947699..32950524-chr14:32951801..32954077,2	K562	blood:
2	chr14:32942791..32945014-chr14:32949857..32951632,2	MCF-7	breast:

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

Extended variants
information (count: 371 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140010804	chr14:32950056-32950057	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73267311	chr14:32950095-32950096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs374541467	chr14:32950097-32950098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567639164	chr14:32950105-32950106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538222203	chr14:32950140-32950141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563024017	chr14:32950155-32950156	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73267313	chr14:32950178-32950179	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77905134	chr14:32950193-32950194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145473268	chr14:32950202-32950203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534868639	chr14:32950220-32950221	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147684946	chr14:32950228-32950229	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114452529	chr14:32950336-32950337	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536113967	chr14:32950363-32950364	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs721538	chr14:32950379-32950380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs568228682	chr14:32950397-32950398	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575964148	chr14:32950436-32950437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188440236	chr14:32950451-32950452	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535680352	chr14:32950479-32950480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554743038	chr14:32950497-32950498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs721537	chr14:32950525-32950526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1961349	chr14:32950596-32950597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142549132	chr14:32950600-32950601	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149812862	chr14:32950604-32950605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558868103	chr14:32950607-32950608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111789134	chr14:32950613-32950614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111267787	chr14:32950670-32950671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78122899	chr14:32950704-32950705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs75366018	chr14:32950711-32950712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549629422	chr14:32950717-32950718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541296457	chr14:32950721-32950722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs193181449	chr14:32950725-32950726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77678206	chr14:32950767-32950768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371994012	chr14:32950783-32950784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79930645	chr14:32950824-32950825	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559634170	chr14:32950825-32950826	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1957031	chr14:32950841-32950842	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113469266	chr14:32950862-32950863	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571558405	chr14:32950872-32950873	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532600651	chr14:32950880-32950881	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs8014556	chr14:32950918-32950919	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117930945	chr14:32950945-32950946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77232894	chr14:32950970-32950971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74497958	chr14:32951027-32951028	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115569929	chr14:32951042-32951043	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536951382	chr14:32951149-32951150	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558488602	chr14:32951150-32951151	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1951197	chr14:32951171-32951172	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146929941	chr14:32951191-32951192	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553085262	chr14:32951192-32951193	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200747427	chr14:32951197-32951198	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32943200-32950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:32945800-32950200	Enhancers	NHDF-Ad	bronchial
3	chr14:32946800-32951200	Weak transcription	Right Ventricle	heart
4	chr14:32947600-32950600	Weak transcription	Left Ventricle	heart
5	chr14:32947600-32951400	Weak transcription	Fetal Heart	heart
6	chr14:32947600-32962200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:32947800-32951000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:32947800-32960600	Weak transcription	Fetal Brain Male	brain
9	chr14:32947800-32963400	Weak transcription	Right Atrium	heart
10	chr14:32948000-32950400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:32948000-32951400	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:32948200-32950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:32948200-32951000	Weak transcription	Brain Angular Gyrus	brain
14	chr14:32948200-32951000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:32948200-32951000	Weak transcription	Brain Substantia Nigra	brain
16	chr14:32948800-32950200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:32948800-32950400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:32949200-32950200	Enhancers	Osteobl	bone
19	chr14:32949400-32950200	Enhancers	HSMM	muscle
20	chr14:32949400-32950800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:32949600-32951000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:32949600-32951200	Weak transcription	Aorta	Aorta
23	chr14:32949800-32950800	Weak transcription	Brain Anterior Caudate	brain
24	chr14:32950000-32950800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:32950000-32951400	Weak transcription	HSMMtube	muscle
26	chr14:32950400-32950800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:32950400-32951800	Enhancers	Brain Hippocampus Middle	brain
28	chr14:32950600-32951400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:32950600-32951400	Enhancers	Left Ventricle	heart
30	chr14:32950800-32951600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:32950800-32951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:32950800-32951600	Enhancers	Brain Anterior Caudate	brain
33	chr14:32950800-32951600	Enhancers	Brain Cingulate Gyrus	brain
34	chr14:32950800-32960600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:32951000-32951600	Enhancers	Brain Angular Gyrus	brain
36	chr14:32951000-32951600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr14:32951000-32951600	Enhancers	Brain Substantia Nigra	brain
38	chr14:32951000-32951600	Enhancers	Rectal Smooth Muscle	rectum
39	chr14:32951000-32952000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:32951200-32951400	Enhancers	Aorta	Aorta
41	chr14:32951200-32951800	Enhancers	HUVEC	blood vessel
42	chr14:32951400-32951600	Weak transcription	Aorta	Aorta
43	chr14:32951400-32951800	Enhancers	Fetal Heart	heart
44	chr14:32951400-32951800	Enhancers	HSMMtube	muscle
45	chr14:32951400-32952000	Enhancers	Colon Smooth Muscle	Colon
46	chr14:32951400-32960600	Weak transcription	Left Ventricle	heart
47	chr14:32951600-32952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:32951600-32957000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:32951600-32960600	Weak transcription	Brain Substantia Nigra	brain
50	chr14:32951800-32960200	Weak transcription	Fetal Heart	heart

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