Variant report

Variant	rs6706212
Chromosome Location	chr2:38865867-38865868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38826787..38828390-chr2:38864612..38866971,2	K562	blood:
2	chr2:38830024..38832660-chr2:38864551..38867364,2	K562	blood:
3	chr2:38829011..38830871-chr2:38864426..38867339,2	MCF-7	breast:
4	chr2:38861742..38863266-chr2:38865469..38867826,2	K562	blood:
5	chr2:38865694..38869051-chr2:38869356..38872589,6	K562	blood:
6	chr2:38826787..38832652-chr2:38859055..38867252,11	K562	blood:
7	chr2:38861742..38863889-chr2:38865469..38867826,3	K562	blood:

Variant related genes	Relation type
ENSG00000143889	Chromatin interaction
ENSG00000235586	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13427352	0.83[EUR][1000 genomes]
rs17022876	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17022893	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17022908	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17022951	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17022999	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278359	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs55992451	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56131922	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56768847	0.81[AMR][1000 genomes]
rs57481292	0.89[AFR][1000 genomes]
rs58563643	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58917023	0.85[ASN][1000 genomes]
rs59036182	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6751824	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72907944	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72909820	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73930139	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73931608	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7581419	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586285	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7594594	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active 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 target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2762495	chr2:38861095-38886391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38862800-38870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:38862800-38870200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:38863600-38869800	Weak transcription	K562	blood
4	chr2:38865200-38870200	Weak transcription	Spleen	Spleen
5	chr2:38865800-38867000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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