Variant report

Variant	rs12434923
Chromosome Location	chr14:68169768-68169769
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	FOS	chr14:68169640-68169916	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr14:68169751-68169925	HepG2	liver:	n/a	chr14:68169815-68169826

No.	Distal block	Cell Line	Cell type
1	chr14:68073926..68076120-chr14:68169505..68171234,2	MCF-7	breast:
2	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:
3	chr14:68065457..68068095-chr14:68169119..68171833,2	MCF-7	breast:
4	chr14:68161792..68164356-chr14:68169236..68171815,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL369P	TF binding region
ENSG00000072042	Chromatin interaction
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10136206	0.80[JPT][hapmap]
rs10483802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12100925	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12431676	0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12432546	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12435352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12435927	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12436474	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12437263	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587111	0.82[ASN][1000 genomes]
rs12587408	0.87[ASN][1000 genomes]
rs12590038	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590620	0.81[ASN][1000 genomes]
rs15493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17249444	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs17249563	0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17836863	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1804799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2009590	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246064	0.82[ASN][1000 genomes]
rs56981676	0.81[ASN][1000 genomes]
rs58668895	0.82[ASN][1000 genomes]
rs59421018	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60851053	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs718213	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs742868	0.81[YRI][hapmap]
rs8010798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8013234	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs910315	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
2	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:68162800-68171000	Weak transcription	A549	lung
4	chr14:68162800-68171200	Weak transcription	K562	blood
5	chr14:68166200-68170400	Weak transcription	Liver	Liver
6	chr14:68166200-68171200	Weak transcription	HepG2	liver
7	chr14:68168800-68169800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:68168800-68170200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr14:68168800-68171200	Weak transcription	Hela-S3	cervix
10	chr14:68168800-68171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:68169400-68170400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:68169600-68169800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:68169600-68169800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links