Variant report

Variant	rs61939221
Chromosome Location	chr12:104566651-104566652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104560247..104562977-chr12:104565263..104567117,2	K562	blood:
2	chr12:104229056..104231950-chr12:104565852..104568001,2	K562	blood:
3	chr12:104565973..104567600-chr12:104571102..104573461,2	MCF-7	breast:
4	chr12:104564791..104567133-chr12:104568799..104572664,3	K562	blood:
5	chr12:104564345..104567467-chr12:104679276..104682233,3	K562	blood:
6	chr12:104526354..104529452-chr12:104565610..104568678,3	MCF-7	breast:
7	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
8	chr12:104566313..104569865-chr12:104572688..104576807,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12582033	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17035324	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4614534	0.86[ASN][1000 genomes]
rs4964226	0.96[ASN][1000 genomes]
rs4964627	0.92[ASN][1000 genomes]
rs4964632	0.92[ASN][1000 genomes]
rs61939222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132418	0.86[ASN][1000 genomes]
rs7299866	0.87[ASN][1000 genomes]
rs73177991	0.87[ASN][1000 genomes]
rs7957723	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104565800-104567400	Weak transcription	Placenta	Placenta
2	chr12:104566400-104567000	Enhancers	K562	blood
3	chr12:104566400-104569800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:104566400-104573400	Weak transcription	Spleen	Spleen
5	chr12:104566600-104568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:104566600-104570600	Weak transcription	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
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