Variant report

Variant	rs58039373
Chromosome Location	chr2:127667254-127667255
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	chr2:127662850..127664564-chr2:127666506..127668375,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10084325	0.84[EUR][1000 genomes]
rs10180994	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10203501	0.84[EUR][1000 genomes]
rs10496658	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10928993	0.90[ASN][1000 genomes]
rs11690380	0.90[ASN][1000 genomes]
rs11696037	0.97[ASN][1000 genomes]
rs12329197	0.84[EUR][1000 genomes]
rs13008155	0.97[ASN][1000 genomes]
rs13009262	0.90[ASN][1000 genomes]
rs13385899	0.86[ASN][1000 genomes]
rs13393833	0.84[EUR][1000 genomes]
rs13401458	0.84[EUR][1000 genomes]
rs13401753	0.90[ASN][1000 genomes]
rs13411697	0.84[EUR][1000 genomes]
rs13411741	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418717	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397340	0.84[EUR][1000 genomes]
rs3795873	0.90[ASN][1000 genomes]
rs3795874	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4452092	0.84[EUR][1000 genomes]
rs4663053	0.88[EUR][1000 genomes]
rs4663054	0.88[EUR][1000 genomes]
rs4663058	0.90[ASN][1000 genomes]
rs4663059	0.90[ASN][1000 genomes]
rs57113328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725432	0.90[ASN][1000 genomes]
rs6733840	0.90[ASN][1000 genomes]
rs6737070	0.97[ASN][1000 genomes]
rs6737793	0.90[ASN][1000 genomes]
rs6748414	0.86[ASN][1000 genomes]
rs7419309	0.90[ASN][1000 genomes]
rs7425345	0.88[EUR][1000 genomes]
rs7572403	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594579	0.87[ASN][1000 genomes]
rs951816	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951817	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834366	chr2:127633714-127784692	Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1004166	chr2:127634679-127672143	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1797936	chr2:127653376-127717477	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1800233	chr2:127653376-127717477	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv1823816	chr2:127653376-127717477	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv1828473	chr2:127653376-127717477	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1830542	chr2:127653376-127717477	Enhancers Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv1837532	chr2:127653376-127717477	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv1838997	chr2:127653376-127717477	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv1843412	chr2:127653376-127717477	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv1846050	chr2:127653376-127717477	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv1837056	chr2:127665641-127704870	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv1839391	chr2:127665641-127704870	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	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	chr2:127665000-127669600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:127665400-127667600	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:127665600-127669800	Enhancers	Fetal Stomach	stomach
4	chr2:127666400-127667600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:127666800-127667600	Enhancers	Colon Smooth Muscle	Colon
6	chr2:127667000-127667600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
7	chr2:127667000-127671600	Weak transcription	Fetal Brain Male	brain
8	chr2:127667200-127672600	Weak transcription	Fetal Brain Female	brain

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