Variant report

Variant	rs7444300
Chromosome Location	chr5:178214699-178214700
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178157437..178158143-chr5:178214195..178215016,4	MCF-7	breast:
2	chr5:178211735..178215494-chr5:178218190..178221753,4	MCF-7	breast:
3	chr5:177657932..177660784-chr5:178214332..178216670,2	MCF-7	breast:
4	chr5:177659037..177660828-chr5:178212887..178215227,2	MCF-7	breast:
5	chr5:178155431..178159106-chr5:178210602..178214832,4	MCF-7	breast:
6	chr5:178214124..178214763-chr5:178265905..178266637,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175309	Chromatin interaction
ENSG00000169131	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10038743	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs10039698	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041558	0.84[AFR][1000 genomes]
rs10041561	0.89[AFR][1000 genomes]
rs10043140	0.95[ASN][1000 genomes]
rs10044101	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs10070226	0.82[AFR][1000 genomes]
rs10073136	0.86[AFR][1000 genomes]
rs10077060	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs10455073	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10455074	0.84[AFR][1000 genomes]
rs10455075	0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs10455076	0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs12651867	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12654347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17078801	1.00[CEU][hapmap]
rs4073381	1.00[CHB][hapmap]
rs56394232	0.85[AFR][1000 genomes]
rs57871332	0.86[AFR][1000 genomes]
rs59612625	0.81[AFR][1000 genomes]
rs60286346	0.89[AFR][1000 genomes]
rs62392960	0.89[EUR][1000 genomes]
rs62392961	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62392964	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62392965	0.89[EUR][1000 genomes]
rs62393896	0.89[AFR][1000 genomes]
rs62393902	0.94[ASN][1000 genomes]
rs62393905	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62393906	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62393907	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62393909	0.85[ASN][1000 genomes]
rs62393910	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62393911	1.00[EUR][1000 genomes]
rs7443613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329054	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs9329055	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1031206	chr5:178149292-178283614	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537973	chr5:178149292-178283614	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv462573	chr5:178180299-178241495	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv600452	chr5:178180299-178241495	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178166600-178224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:178206400-178217600	Weak transcription	Gastric	stomach
3	chr5:178210600-178217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:178213000-178215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:178213200-178215000	Enhancers	K562	blood
6	chr5:178213200-178215800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr5:178213200-178215800	Enhancers	Stomach Mucosa	stomach
8	chr5:178213400-178215200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:178213400-178215200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:178213800-178214800	Weak transcription	Esophagus	oesophagus
11	chr5:178213800-178215200	Enhancers	Hela-S3	cervix
12	chr5:178213800-178216000	Enhancers	Placenta	Placenta
13	chr5:178214000-178214800	Enhancers	Fetal Kidney	kidney
14	chr5:178214000-178214800	Enhancers	HepG2	liver
15	chr5:178214400-178215800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:178214600-178215200	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links