Variant report

Variant	rs12424603
Chromosome Location	chr12:74728764-74728765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74728722..74730831-chr12:74734863..74737720,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1019690	0.84[AFR][1000 genomes]
rs1019692	0.81[AFR][1000 genomes]
rs1019693	0.86[AFR][1000 genomes]
rs1019694	0.86[AFR][1000 genomes]
rs10879749	0.86[AFR][1000 genomes]
rs11180015	0.84[AFR][1000 genomes]
rs11180023	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180027	0.86[AFR][1000 genomes]
rs11833117	0.89[ASN][1000 genomes]
rs11834990	0.86[ASN][1000 genomes]
rs1346248	0.86[AFR][1000 genomes]
rs1365534	0.86[AFR][1000 genomes]
rs2012003	0.86[AFR][1000 genomes]
rs2012005	0.86[AFR][1000 genomes]
rs2162395	0.86[AFR][1000 genomes]
rs4883486	0.84[ASN][1000 genomes]
rs67697209	0.84[ASN][1000 genomes]
rs68026423	0.86[AFR][1000 genomes]
rs72652866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7398187	0.94[AFR][1000 genomes]
rs980784	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:74726200-74731400	Weak transcription	HMEC	breast
2	chr12:74728200-74729000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:74728400-74728800	Enhancers	A549	lung
4	chr12:74728400-74729000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:74728400-74729000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:74728400-74729200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:74728600-74728800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:74728600-74729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:74728600-74729000	Enhancers	HUVEC	blood vessel

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