Variant report

Variant	rs57241318
Chromosome Location	chr12:49713839-49713840
allele	C/T
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

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

No.	Distal block	Cell Line	Cell type
1	chr12:49696884..49699864-chr12:49712241..49714234,3	K562	blood:
2	chr12:49663971..49666837-chr12:49712458..49715347,2	K562	blood:
3	chr12:49689378..49691969-chr12:49713640..49716013,3	K562	blood:
4	chr12:49657378..49660291-chr12:49711061..49714254,5	K562	blood:
5	chr12:49689988..49692308-chr12:49713640..49717456,5	K562	blood:
6	chr12:49657378..49660931-chr12:49711552..49714180,3	K562	blood:
7	chr12:49698201..49699864-chr12:49712717..49714234,2	K562	blood:
8	chr12:49686580..49692358-chr12:49712251..49718367,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135406	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10400435	0.92[ASN][1000 genomes]
rs10400567	0.92[ASN][1000 genomes]
rs11168973	0.96[ASN][1000 genomes]
rs11168974	1.00[ASN][1000 genomes]
rs11168975	1.00[ASN][1000 genomes]
rs11503617	0.96[ASN][1000 genomes]
rs11835303	0.96[ASN][1000 genomes]
rs12313488	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12580931	0.92[ASN][1000 genomes]
rs12822293	0.92[ASN][1000 genomes]
rs2070760	0.92[ASN][1000 genomes]
rs28493849	0.92[ASN][1000 genomes]
rs3088008	0.96[ASN][1000 genomes]
rs4243545	0.96[ASN][1000 genomes]
rs4898504	0.96[ASN][1000 genomes]
rs4898517	0.88[AFR][1000 genomes]
rs4898519	1.00[ASN][1000 genomes]
rs59575791	0.96[ASN][1000 genomes]
rs67236923	0.92[ASN][1000 genomes]
rs67309388	0.92[ASN][1000 genomes]
rs73112143	0.92[ASN][1000 genomes]
rs73309977	0.96[ASN][1000 genomes]
rs7488343	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49703800-49715600	Weak transcription	K562	blood
2	chr12:49709600-49715800	Weak transcription	NHEK	skin
3	chr12:49709600-49716000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:49709800-49716000	Weak transcription	HMEC	breast

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