Variant report

Variant	rs73055427
Chromosome Location	chr7:12741675-12741676
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr7:12740399-12741825	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12741433..12743635-chr7:12747314..12748891,2	MCF-7	breast:
2	chr7:12740786..12742705-chr7:12744684..12746213,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199470	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13224178	1.00[AFR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616248	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616514	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28877021	1.00[ASN][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35908302	1.00[AFR][1000 genomes]
rs55659055	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246037	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66620565	1.00[AFR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes]
rs71536895	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73053466	1.00[AFR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055421	1.00[ASN][1000 genomes]
rs73055444	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055447	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055457	1.00[ASN][1000 genomes]
rs73055460	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055475	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055491	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061007	1.00[ASN][1000 genomes]
rs73061023	1.00[ASN][1000 genomes]
rs73061030	1.00[ASN][1000 genomes]
rs892714	1.00[AFR][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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2762652	chr7:12733802-12749636	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
9	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12730800-12746600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:12736000-12743400	Weak transcription	Stomach Mucosa	stomach
3	chr7:12740400-12742200	ZNF genes & repeats	A549	lung
4	chr7:12740600-12741800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:12741000-12746400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:12741000-12746400	Weak transcription	HSMM	muscle
7	chr7:12741000-12746600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:12741200-12742600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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