Variant report

Variant	rs4983423
Chromosome Location	chr14:105949093-105949094
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	POLR2A	chr14:105946245-105949689	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr14:105947045-105949128	IMR90	lung:	n/a	chr14:105948389-105948404 chr14:105948391-105948406
3	POLR2A	chr14:105948187-105949158	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:105945628-105949140	MCF-7	breast:	n/a	n/a
5	POLR2A	chr14:105947064-105950063	HepG2	liver:	n/a	n/a
6	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
7	ELF1	chr14:105946015-105950277	MCF-7	breast:	n/a	n/a
8	POLR2A	chr14:105949036-105949110	ProgFib	skin:	n/a	n/a
9	ZBTB7A	chr14:105944229-105950591	ECC-1	luminal epithelium:	n/a	chr14:105944382-105944391
10	POLR2A	chr14:105947051-105950101	MCF10A-Er-Src	breast:	n/a	n/a
11	NFIC	chr14:105947013-105949120	ECC-1	luminal epithelium:	n/a	chr14:105947797-105947814 chr14:105947798-105947814
12	EP300	chr14:105945971-105950322	ECC-1	luminal epithelium:	n/a	chr14:105949647-105949663 chr14:105948049-105948058
13	TCF12	chr14:105946964-105949275	ECC-1	luminal epithelium:	n/a	chr14:105948788-105948798
14	ZBTB7A	chr14:105945602-105950346	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:105947055-105949159	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr14:105945578-105951699	ECC-1	luminal epithelium:	n/a	n/a
17	CHD1	chr14:105947068-105949161	IMR90	lung:	n/a	n/a
18	NR2F2	chr14:105945858-105949402	MCF-7	breast:	n/a	n/a
19	GATA3	chr14:105947005-105949202	MCF-7	breast:	n/a	chr14:105948332-105948342
20	POLR2A	chr14:105947042-105949831	IMR90	lung:	n/a	n/a
21	POLR2A	chr14:105945607-105950094	SK-N-MC	brain:	n/a	n/a
22	NFIC	chr14:105946853-105949144	ECC-1	luminal epithelium:	n/a	chr14:105947797-105947814 chr14:105947798-105947814
23	POLR2A	chr14:105946960-105949165	Hela-S3	cervix:	n/a	n/a
24	TCF12	chr14:105946922-105949141	ECC-1	luminal epithelium:	n/a	chr14:105948788-105948798

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	chr14:105922914..105924909-chr14:105948447..105949990,2	K562	blood:
4	chr14:105883580..105888149-chr14:105947638..105952467,6	MCF-7	breast:
5	chr14:105879192..105880978-chr14:105946583..105949410,2	MCF-7	breast:
6	chr14:105901633..105904237-chr14:105946344..105949150,3	MCF-7	breast:
7	chr14:105945980..105950779-chr14:105991667..105994836,5	K562	blood:
8	chr14:105944424..105949494-chr14:105991782..105997266,9	MCF-7	breast:
9	chr14:105932715..105935699-chr14:105947467..105949980,2	K562	blood:
10	chr14:105945919..105949902-chr14:105993265..105997331,11	MCF-7	breast:
11	chr14:105862874..105866826-chr14:105946373..105950090,5	K562	blood:
12	chr14:105932715..105935765-chr14:105945962..105949980,4	K562	blood:
13	chr14:105862539..105866268-chr14:105946890..105950237,5	MCF-7	breast:
14	chr14:105902283..105908432-chr14:105944817..105951373,9	MCF-7	breast:
15	chr14:105905481..105908435-chr14:105945567..105949931,4	MCF-7	breast:
16	chr14:105870531..105872193-chr14:105947372..105949251,2	MCF-7	breast:
17	chr14:105947026..105949255-chr6:30576466..30577973,2	MCF-7	breast:

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

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10135326	0.85[AMR][1000 genomes]
rs10138891	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143851	0.88[ASW][hapmap]
rs10782498	0.82[AFR][1000 genomes]
rs11160845	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100473	1.00[CHD][hapmap]
rs12323571	1.00[ASW][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13707	0.93[AMR][1000 genomes]
rs28725385	1.00[CHD][hapmap]
rs35590487	1.00[CHD][hapmap]
rs4074000	0.82[YRI][hapmap]
rs4983339	1.00[CHD][hapmap]
rs4983412	0.93[AMR][1000 genomes]
rs4983414	0.82[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983418	0.93[YRI][hapmap];0.93[AMR][1000 genomes]
rs4983419	0.93[AMR][1000 genomes]
rs4983422	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]
rs7493964	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs7494350	1.00[CHD][hapmap]
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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4983423	SYBU	trans	lymphoblastoid	seeQTL

Chromatin state (count:108 , 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	chr14:105946600-105951200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:105947000-105949200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:105947000-105949400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:105947000-105951200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:105947000-105952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:105947200-105953400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:105947400-105953600	Enhancers	Lung	lung
11	chr14:105947600-105950600	Enhancers	Small Intestine	intestine
12	chr14:105947800-105949200	Enhancers	HUVEC	blood vessel
13	chr14:105948000-105949200	Enhancers	NHDF-Ad	bronchial
14	chr14:105948000-105949400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr14:105948000-105949600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:105948000-105950400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:105948000-105951000	Enhancers	HMEC	breast
18	chr14:105948000-105951200	Enhancers	Fetal Lung	lung
19	chr14:105948000-105951400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:105948000-105951600	Enhancers	HSMM	muscle
21	chr14:105948000-105952400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:105948000-105952600	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:105948000-105952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:105948000-105953000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr14:105948000-105953000	Bivalent Enhancer	Fetal Thymus	thymus
26	chr14:105948000-105953200	Enhancers	Left Ventricle	heart
27	chr14:105948000-105953200	Enhancers	Right Ventricle	heart
28	chr14:105948000-105953400	Enhancers	Esophagus	oesophagus
29	chr14:105948000-105954200	Enhancers	Fetal Heart	heart
30	chr14:105948000-105954400	Enhancers	Spleen	Spleen
31	chr14:105948200-105949200	Enhancers	Psoas Muscle	Psoas
32	chr14:105948200-105949200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr14:105948200-105949600	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr14:105948200-105950000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr14:105948200-105952800	Enhancers	Right Atrium	heart
36	chr14:105948400-105949200	Flanking Active TSS	Hela-S3	cervix
37	chr14:105948400-105949400	Enhancers	Thymus	Thymus
38	chr14:105948400-105949600	Enhancers	Aorta	Aorta
39	chr14:105948400-105949800	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:105948400-105950200	Enhancers	Pancreas	Pancrea
41	chr14:105948400-105951400	Enhancers	Fetal Intestine Large	intestine
42	chr14:105948400-105952400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:105948400-105952400	Enhancers	Fetal Intestine Small	intestine
44	chr14:105948400-105953000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:105948400-105953200	Bivalent Enhancer	Fetal Stomach	stomach
46	chr14:105948400-105953600	Enhancers	Primary B cells from cord blood	blood
47	chr14:105948600-105949200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:105948600-105949200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:105948600-105949200	Flanking Active TSS	A549	lung
50	chr14:105948600-105949400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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