Variant report

Variant	rs7965997
Chromosome Location	chr12:74685228-74685229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74683740..74685933-chr12:74788608..74790315,2	K562	blood:
2	chr12:74683373..74686280-chr12:74686483..74688021,2	K562	blood:

Variant related genes	Relation type
ENSG00000251138	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11179992	0.93[ASN][1000 genomes]
rs11179997	0.93[ASN][1000 genomes]
rs11180001	0.93[ASN][1000 genomes]
rs12302817	0.93[ASN][1000 genomes]
rs12305113	0.93[ASN][1000 genomes]
rs12306390	0.93[ASN][1000 genomes]
rs12578377	0.93[ASN][1000 genomes]
rs1608077	0.93[ASN][1000 genomes]
rs1608078	0.93[ASN][1000 genomes]
rs17113216	0.80[EUR][1000 genomes]
rs17113229	0.82[EUR][1000 genomes]
rs17113259	0.82[EUR][1000 genomes]
rs35750153	0.89[ASN][1000 genomes]
rs4267148	0.93[ASN][1000 genomes]
rs57932700	0.80[EUR][1000 genomes]
rs60261359	0.93[ASN][1000 genomes]
rs60385205	0.93[ASN][1000 genomes]
rs6582211	0.93[ASN][1000 genomes]
rs7294453	0.82[EUR][1000 genomes]
rs7302983	0.93[ASN][1000 genomes]
rs73350051	0.82[EUR][1000 genomes]
rs73350054	0.82[EUR][1000 genomes]
rs73350056	0.82[EUR][1000 genomes]
rs73350831	0.93[ASN][1000 genomes]
rs73350843	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73351743	0.82[EUR][1000 genomes]
rs73351769	0.84[EUR][1000 genomes]
rs7964864	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	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
11	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74681400-74690800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:74683000-74685600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:74684800-74686800	Active TSS	K562	blood

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