Variant report

Variant	rs494189
Chromosome Location	chr1:168707757-168707758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168701933..168707836-chr1:169074418..169079028,9	MCF-7	breast:
2	chr1:168701343..168703439-chr1:168705910..168708236,3	K562	blood:
3	chr1:168706095..168708640-chr1:168848539..168850688,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489362	0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10800378	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10918972	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12739280	0.81[ASN][1000 genomes]
rs2744666	0.86[ASW][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2786758	0.80[ASN][1000 genomes]
rs2786759	0.84[CEU][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2786763	0.87[AFR][1000 genomes]
rs2786764	0.80[ASN][1000 genomes]
rs35723976	0.80[ASN][1000 genomes]
rs485187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs536014	1.00[LWK][hapmap]
rs552859	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs567067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs628718	0.86[ASW][hapmap];0.94[CEU][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes]
rs6427147	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6427150	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6675239	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6690929	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs761519	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168701000-168710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:168701800-168720400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:168703200-168708200	Enhancers	Colon Smooth Muscle	Colon
4	chr1:168704000-168708000	Enhancers	Fetal Lung	lung
5	chr1:168705600-168708200	Enhancers	Stomach Smooth Muscle	stomach
6	chr1:168705800-168708200	Enhancers	Fetal Heart	heart
7	chr1:168706000-168708000	Enhancers	Brain Angular Gyrus	brain
8	chr1:168706400-168707800	Bivalent Enhancer	Fetal Stomach	stomach
9	chr1:168706600-168707800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:168706600-168707800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:168706600-168707800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:168706600-168708000	Enhancers	Brain Germinal Matrix	brain
13	chr1:168706600-168708000	Enhancers	Right Ventricle	heart
14	chr1:168706800-168708200	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:168707400-168708000	Enhancers	Aorta	Aorta
16	chr1:168707600-168708800	Weak transcription	HepG2	liver
17	chr1:168707600-168712400	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links