Variant report

Variant	rs6720169
Chromosome Location	chr2:152473406-152473407
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152470745..152473720-chr2:152480140..152483557,3	K562	blood:
2	chr2:152470745..152473899-chr2:152481197..152482872,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10186482	0.93[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13383484	0.89[EUR][1000 genomes]
rs2288196	0.90[JPT][hapmap]
rs2288202	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs2288210	0.84[CEU][hapmap]
rs3732310	0.90[JPT][hapmap]
rs4575719	0.84[CEU][hapmap];0.90[JPT][hapmap]
rs4664056	0.81[GIH][hapmap];0.90[JPT][hapmap]
rs4664064	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4664065	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4664475	0.90[JPT][hapmap]
rs4664486	0.81[GIH][hapmap];0.90[JPT][hapmap]
rs4664493	0.88[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs6414089	0.90[JPT][hapmap]
rs6704618	0.89[JPT][hapmap]
rs6709886	0.89[EUR][1000 genomes]
rs6721666	0.90[JPT][hapmap]
rs6730454	0.90[JPT][hapmap]
rs6732307	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7419413	0.83[CEU][hapmap]
rs7422136	0.84[CEU][hapmap]
rs7568873	0.84[CEU][hapmap]
rs9287979	0.90[JPT][hapmap]
rs9287983	0.87[GIH][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv2974	chr2:152401495-152499455	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1800583	chr2:152433970-152480935	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1795796	chr2:152436051-152477968	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6720169	RIF1	cis	Skin Sun Exposed Lower leg	GTEx
rs6720169	RIF1	cis	parietal	SCAN
rs6720169	RND3	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152460600-152489200	Weak transcription	Psoas Muscle	Psoas
2	chr2:152465400-152478200	Strong transcription	Fetal Muscle Leg	muscle
3	chr2:152465400-152491400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:152467800-152491400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:152470400-152477600	Strong transcription	HSMMtube	muscle
6	chr2:152470600-152474000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:152472000-152475600	Weak transcription	K562	blood
8	chr2:152472000-152475800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:152472000-152475800	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:152472000-152476000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:152472000-152491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:152472800-152474600	Enhancers	HUVEC	blood vessel

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