Variant report

Variant	rs55931381
Chromosome Location	chr1:227122922-227122923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227063887..227066680-chr1:227122260..227124831,2	K562	blood:
2	chr1:227120550..227125056-chr1:227125526..227130196,9	MCF-7	breast:
3	chr1:227117447..227123696-chr1:227124121..227129990,13	K562	blood:
4	chr1:227121600..227125241-chr1:227125612..227130283,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163050	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11549708	1.00[ASN][1000 genomes]
rs11805012	1.00[ASN][1000 genomes]
rs11806633	1.00[ASN][1000 genomes]
rs12402400	1.00[ASN][1000 genomes]
rs12403978	1.00[ASN][1000 genomes]
rs12404219	1.00[ASN][1000 genomes]
rs1317490	1.00[ASN][1000 genomes]
rs17528049	1.00[ASN][1000 genomes]
rs17528077	1.00[ASN][1000 genomes]
rs1801783	1.00[ASN][1000 genomes]
rs2077734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41303131	1.00[ASN][1000 genomes]
rs45553032	1.00[ASN][1000 genomes]
rs55811522	1.00[ASN][1000 genomes]
rs56100227	1.00[ASN][1000 genomes]
rs61515455	1.00[ASN][1000 genomes]
rs61833991	1.00[ASN][1000 genomes]
rs61833993	1.00[ASN][1000 genomes]
rs61833999	1.00[ASN][1000 genomes]
rs61834000	1.00[ASN][1000 genomes]
rs61834003	1.00[ASN][1000 genomes]
rs61834008	1.00[ASN][1000 genomes]
rs61834038	1.00[ASN][1000 genomes]
rs66602251	1.00[ASN][1000 genomes]
rs6680937	1.00[ASN][1000 genomes]
rs6704087	1.00[ASN][1000 genomes]
rs7535648	1.00[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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227083200-227126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:227102800-227125800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:227109600-227126600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:227112200-227125600	Weak transcription	Left Ventricle	heart
5	chr1:227112200-227125800	Weak transcription	Right Atrium	heart
6	chr1:227122000-227125800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:227122800-227123000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr1:227122800-227123000	ZNF genes & repeats	Osteobl	bone
9	chr1:227122800-227126800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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