Variant report

Variant	rs12615720
Chromosome Location	chr2:178837811-178837812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178823421..178826085-chr2:178834912..178837926,3	K562	blood:
2	chr2:178681561..178684546-chr2:178836153..178838637,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11695211	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12469439	0.88[ASN][1000 genomes]
rs1369519	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1369520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1405645	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1405646	0.88[ASN][1000 genomes]
rs1821628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217839	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2573080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2573081	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2573085	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2573088	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2695103	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2695104	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2695111	0.80[ASN][1000 genomes]
rs2695112	0.80[ASN][1000 genomes]
rs2695729	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2695738	0.80[ASN][1000 genomes]
rs2695754	0.80[ASN][1000 genomes]
rs2695760	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433705	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6745288	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3409384	chr2:178837356-178844904	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3367225	chr2:178837494-178853153	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv17316	chr2:178837784-178847855	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178837600-178838000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:178837800-178838000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:178837800-178838000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:178837800-178838000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:178837800-178838000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:178837800-178838000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:178837800-178838000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:178837800-178838000	Active TSS	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links