Variant report

Variant	rs2331703
Chromosome Location	chr14:68906766-68906767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68905969..68908035-chr14:68908553..68911248,2	MCF-7	breast:
2	chr14:68905083..68907037-chr14:69260254..69261776,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10438157	0.82[EUR][1000 genomes]
rs10454686	0.84[CEU][hapmap]
rs10747299	0.85[ASN][1000 genomes]
rs11158737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12435006	0.85[ASN][1000 genomes]
rs12588330	1.00[CHD][hapmap];0.97[GIH][hapmap];0.85[ASN][1000 genomes]
rs12889206	1.00[MEX][hapmap]
rs12897307	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897678	0.86[EUR][1000 genomes]
rs17755674	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1956538	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2064910	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs2331704	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2525507	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2753403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842320	1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784118	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs3966077	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs4899241	0.85[CHD][hapmap];0.88[GIH][hapmap]
rs4899243	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs4902571	0.89[CEU][hapmap];1.00[MEX][hapmap]
rs4902578	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902580	1.00[CHD][hapmap];0.97[GIH][hapmap];0.85[ASN][1000 genomes]
rs4902582	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573834	1.00[MEX][hapmap]
rs7145422	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7150454	1.00[MEX][hapmap]
rs7152152	0.97[GIH][hapmap]
rs8003606	1.00[CHB][hapmap]
rs8009876	1.00[MEX][hapmap]
rs8013026	0.84[CEU][hapmap]
rs8015516	0.89[CEU][hapmap];0.86[MEX][hapmap]
rs8019592	0.85[CHD][hapmap];0.85[GIH][hapmap]
rs9323510	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323511	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9743896	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975422	0.89[CEU][hapmap];1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2331703	C14orf50	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68895200-68914400	Weak transcription	A549	lung
2	chr14:68901400-68908600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr14:68901800-68907400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:68903000-68911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:68903600-68907200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:68904000-68910000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68905200-68906800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:68905600-68906800	Enhancers	Fetal Muscle Leg	muscle
9	chr14:68906000-68907000	Enhancers	Fetal Heart	heart
10	chr14:68906200-68907000	Enhancers	Adipose Nuclei	Adipose
11	chr14:68906200-68907000	Enhancers	Stomach Smooth Muscle	stomach
12	chr14:68906200-68911200	Weak transcription	Spleen	Spleen
13	chr14:68906200-68911400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:68906200-68912200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:68906400-68906800	Enhancers	Right Atrium	heart
16	chr14:68906400-68907000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:68906400-68907200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:68906400-68907200	Enhancers	Colon Smooth Muscle	Colon
19	chr14:68906400-68911400	Weak transcription	Fetal Lung	lung
20	chr14:68906400-68912000	Enhancers	NHDF-Ad	bronchial
21	chr14:68906600-68908600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:68906600-68909600	Weak transcription	Psoas Muscle	Psoas

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