Variant report

Variant	rs4983422
Chromosome Location	chr14:105948884-105948885
allele	C/T
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	HDAC2	chr14:105946589-105949036	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:105946245-105949689	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr14:105947101-105948916	ECC-1	luminal epithelium:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
4	MXI1	chr14:105947045-105949128	IMR90	lung:	n/a	chr14:105948389-105948404 chr14:105948391-105948406
5	POLR2A	chr14:105948187-105949158	MCF-7	breast:	n/a	n/a
6	POLR2A	chr14:105948242-105949017	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr14:105945628-105949140	MCF-7	breast:	n/a	n/a
8	POLR2A	chr14:105947064-105950063	HepG2	liver:	n/a	n/a
9	MAX	chr14:105946969-105949086	A549	lung:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
10	MXI1	chr14:105946969-105949014	SK-N-SH	brain:	n/a	chr14:105948389-105948404 chr14:105948391-105948406
11	FOXM1	chr14:105947029-105949060	MCF-7	breast:	n/a	n/a
12	TCF12	chr14:105946104-105948938	A549	lung:	n/a	chr14:105948788-105948798
13	HCFC1	chr14:105947020-105948976	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr14:105946881-105949102	A549	lung:	n/a	chr14:105947362-105947380 chr14:105947365-105947378 chr14:105947365-105947378 chr14:105947363-105947379 chr14:105947367-105947375 chr14:105947364-105947385
15	ELF1	chr14:105946015-105950277	MCF-7	breast:	n/a	n/a
16	ZBTB7A	chr14:105944229-105950591	ECC-1	luminal epithelium:	n/a	chr14:105944382-105944391
17	EP300	chr14:105947167-105949062	ECC-1	luminal epithelium:	n/a	chr14:105948049-105948058
18	POLR2A	chr14:105947056-105949006	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr14:105947051-105950101	MCF10A-Er-Src	breast:	n/a	n/a
20	NFIC	chr14:105947013-105949120	ECC-1	luminal epithelium:	n/a	chr14:105947797-105947814 chr14:105947798-105947814
21	SMC3	chr14:105946725-105949059	SK-N-SH	brain:	n/a	chr14:105947364-105947378
22	MAZ	chr14:105946780-105949060	IMR90	lung:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
23	TEAD4	chr14:105947091-105948981	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr14:105947017-105949004	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr14:105947095-105948975	Hela-S3	cervix:	n/a	n/a
26	NR2F2	chr14:105948098-105948970	MCF-7	breast:	n/a	n/a
27	EP300	chr14:105945971-105950322	ECC-1	luminal epithelium:	n/a	chr14:105949647-105949663 chr14:105948049-105948058
28	POLR2A	chr14:105947156-105948952	K562	blood:	n/a	n/a
29	FOXM1	chr14:105948195-105948889	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr14:105946963-105949002	Hela-S3	cervix:	n/a	n/a
31	TCF12	chr14:105946964-105949275	ECC-1	luminal epithelium:	n/a	chr14:105948788-105948798
32	MAX	chr14:105947072-105949013	ECC-1	luminal epithelium:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
33	FOXM1	chr14:105946990-105949001	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr14:105945602-105950346	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr14:105947055-105949159	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr14:105947176-105948997	PBDE	blood:	n/a	n/a
37	POLR2A	chr14:105945578-105951699	ECC-1	luminal epithelium:	n/a	n/a
38	CHD1	chr14:105947068-105949161	IMR90	lung:	n/a	n/a
39	NR2F2	chr14:105945858-105949402	MCF-7	breast:	n/a	n/a
40	POLR2A	chr14:105948738-105948885	H1-hESC	embryonic stem cell:	n/a	n/a
41	GATA3	chr14:105947005-105949202	MCF-7	breast:	n/a	chr14:105948332-105948342
42	POLR2A	chr14:105947042-105949831	IMR90	lung:	n/a	n/a
43	EBF1	chr14:105947240-105948935	GM12878	blood:	n/a	chr14:105948116-105948125 chr14:105948551-105948561 chr14:105948115-105948125 chr14:105948116-105948125 chr14:105948552-105948561
44	RCOR1	chr14:105946959-105949058	IMR90	lung:	n/a	n/a
45	POLR2A	chr14:105945607-105950094	SK-N-MC	brain:	n/a	n/a
46	NFIC	chr14:105948159-105948921	SK-N-SH	brain:	n/a	n/a
47	MAX	chr14:105947077-105948972	A549	lung:	n/a	chr14:105947579-105947589 chr14:105947504-105947513
48	NFIC	chr14:105946853-105949144	ECC-1	luminal epithelium:	n/a	chr14:105947797-105947814 chr14:105947798-105947814
49	POLR2A	chr14:105946960-105949165	Hela-S3	cervix:	n/a	n/a
50	MAX	chr14:105945953-105949051	MCF-7	breast:	n/a	chr14:105947579-105947589 chr14:105947504-105947513

No.	Distal block	Cell Line	Cell type
1	chr14:105863141..105865486-chr14:105947298..105949240,2	K562	blood:
2	chr14:105887779..105891496-chr14:105947005..105949975,3	MCF-7	breast:
3	chr14:105933246..105934181-chr14:105948309..105949030,2	MCF-7	breast:
4	chr14:105922914..105924909-chr14:105948447..105949990,2	K562	blood:
5	chr14:105883580..105888149-chr14:105947638..105952467,6	MCF-7	breast:
6	chr14:105879192..105880978-chr14:105946583..105949410,2	MCF-7	breast:
7	chr14:105901633..105904237-chr14:105946344..105949150,3	MCF-7	breast:
8	chr14:105945980..105950779-chr14:105991667..105994836,5	K562	blood:
9	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
10	chr14:105932715..105935699-chr14:105947467..105949980,2	K562	blood:
11	chr14:105945919..105949902-chr14:105993265..105997331,11	MCF-7	breast:
12	chr14:105862874..105866826-chr14:105946373..105950090,5	K562	blood:
13	chr14:105948329..105949083-chr7:130857577..130858553,2	Hela-S3	cervix:
14	chr14:105839425..105843389-chr14:105946239..105949044,4	MCF-7	breast:
15	chr14:105932715..105935765-chr14:105945962..105949980,4	K562	blood:
16	chr14:105862539..105866268-chr14:105946890..105950237,5	MCF-7	breast:
17	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
18	chr14:105905481..105908435-chr14:105945567..105949931,4	MCF-7	breast:
19	chr14:105870531..105872193-chr14:105947372..105949251,2	MCF-7	breast:
20	chr14:105947026..105949255-chr6:30576466..30577973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257341	TF binding region
CRIP1	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000184986	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000242085	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10135326	0.85[AMR][1000 genomes]
rs10138891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10782498	0.82[AFR][1000 genomes]
rs11160845	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12323571	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13707	0.93[AMR][1000 genomes]
rs4983412	0.93[AMR][1000 genomes]
rs4983414	0.93[AMR][1000 genomes]
rs4983418	0.93[AMR][1000 genomes]
rs4983419	0.93[AMR][1000 genomes]
rs4983423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59732071	0.82[AFR][1000 genomes]
rs7140395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7160858	0.82[AMR][1000 genomes]
rs73362069	1.00[AMR][1000 genomes]
rs7492892	0.93[AMR][1000 genomes]
rs7493450	0.93[AMR][1000 genomes]
rs8005552	0.86[AMR][1000 genomes]
rs8012089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105943200-105949400	Enhancers	Fetal Brain Male	brain
2	chr14:105946600-105949000	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr14:105946600-105951200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:105947000-105949000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr14:105947000-105949000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:105947000-105949200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:105947000-105949400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:105947000-105951200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:105947000-105952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:105947200-105949000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr14:105947200-105953400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:105947400-105949000	Flanking Active TSS	Osteobl	bone
15	chr14:105947400-105953600	Enhancers	Lung	lung
16	chr14:105947600-105950600	Enhancers	Small Intestine	intestine
17	chr14:105947800-105949200	Enhancers	HUVEC	blood vessel
18	chr14:105948000-105949000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:105948000-105949000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:105948000-105949000	Enhancers	Liver	Liver
21	chr14:105948000-105949200	Enhancers	NHDF-Ad	bronchial
22	chr14:105948000-105949400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr14:105948000-105949600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:105948000-105950400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:105948000-105951000	Enhancers	HMEC	breast
26	chr14:105948000-105951200	Enhancers	Fetal Lung	lung
27	chr14:105948000-105951400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr14:105948000-105951600	Enhancers	HSMM	muscle
29	chr14:105948000-105952400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:105948000-105952600	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:105948000-105952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:105948000-105953000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr14:105948000-105953000	Bivalent Enhancer	Fetal Thymus	thymus
34	chr14:105948000-105953200	Enhancers	Left Ventricle	heart
35	chr14:105948000-105953200	Enhancers	Right Ventricle	heart
36	chr14:105948000-105953400	Enhancers	Esophagus	oesophagus
37	chr14:105948000-105954200	Enhancers	Fetal Heart	heart
38	chr14:105948000-105954400	Enhancers	Spleen	Spleen
39	chr14:105948200-105949000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:105948200-105949000	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr14:105948200-105949000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr14:105948200-105949000	Flanking Active TSS	Colonic Mucosa	Colon
43	chr14:105948200-105949000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr14:105948200-105949000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr14:105948200-105949000	Flanking Active TSS	Dnd41	blood
46	chr14:105948200-105949000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr14:105948200-105949000	Flanking Active TSS	NHLF	lung
48	chr14:105948200-105949200	Enhancers	Psoas Muscle	Psoas
49	chr14:105948200-105949200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr14:105948200-105949600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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