Variant report

Variant	rs12136395
Chromosome Location	chr1:113707886-113707887
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	chr1:113706258..113709003-chr1:113710528..113712528,2	MCF-7	breast:
2	chr1:113707235..113708802-chr1:113711063..113713536,2	K562	blood:

Variant related genes	Relation type
ENSG00000233839	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11102584	1.00[AMR][1000 genomes]
rs11102586	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11102588	1.00[AMR][1000 genomes]
rs1141522	1.00[AFR][1000 genomes]
rs12117273	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12118061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118532	0.83[EUR][1000 genomes]
rs12118642	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12119387	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120401	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120738	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12123072	0.83[EUR][1000 genomes]
rs12123519	0.83[EUR][1000 genomes]
rs12123601	0.83[EUR][1000 genomes]
rs12124148	1.00[ASN][1000 genomes]
rs12125675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125708	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126316	1.00[AMR][1000 genomes]
rs12127415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128658	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12129858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133057	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12137299	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12138968	1.00[AMR][1000 genomes]
rs12139726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140651	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12140676	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12140810	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141018	1.00[AMR][1000 genomes]
rs12141415	0.83[EUR][1000 genomes]
rs12141540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141541	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142449	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143171	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12143341	0.83[EUR][1000 genomes]
rs12143430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145738	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216767	0.83[EUR][1000 genomes]
rs1216808	0.83[EUR][1000 genomes]
rs12184272	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12184320	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12744661	0.83[EUR][1000 genomes]
rs1310142	0.83[EUR][1000 genomes]
rs1618794	0.83[EUR][1000 genomes]
rs17031006	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1728229	0.83[EUR][1000 genomes]
rs1766864	0.83[EUR][1000 genomes]
rs41296184	1.00[AMR][1000 genomes]
rs41306207	1.00[AMR][1000 genomes]
rs6695183	0.83[EUR][1000 genomes]
rs72685641	1.00[ASN][1000 genomes]
rs7518115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541246	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541703	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113707200-113711600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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