Variant report

Variant	rs12451290
Chromosome Location	chr17:44965645-44965646
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:44965024..44966573-chr17:44998761..45000835,2	K562	blood:
2	chr17:44965073..44966803-chr17:44998160..45000261,2	K562	blood:

Variant related genes	Relation type
ENSG00000210709	Chromatin interaction
ENSG00000108433	Chromatin interaction
ENSG00000262633	Chromatin interaction
ENSG00000261886	Chromatin interaction

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

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

rs_ID	r²[population]
rs123028	0.84[ASN][1000 genomes]
rs16941177	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941180	1.00[ASN][1000 genomes]
rs16941186	1.00[ASN][1000 genomes]
rs16941211	1.00[ASN][1000 genomes]
rs187883	0.89[ASN][1000 genomes]
rs197909	0.89[ASN][1000 genomes]
rs197927	1.00[ASN][1000 genomes]
rs197928	1.00[ASN][1000 genomes]
rs197930	1.00[ASN][1000 genomes]
rs197938	1.00[ASN][1000 genomes]
rs197943	0.89[ASN][1000 genomes]
rs2277614	1.00[ASN][1000 genomes]
rs34072914	0.90[ASN][1000 genomes]
rs62071992	0.90[ASN][1000 genomes]
rs7210762	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224871	1.00[YRI][hapmap]
rs73988203	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73988204	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73988205	1.00[ASN][1000 genomes]
rs73988207	1.00[ASN][1000 genomes]

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	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr17:44957200-44965800	Weak transcription	Spleen	Spleen
2	chr17:44961400-44966800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:44961600-44971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr17:44962000-44967400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:44963600-44966600	Weak transcription	Fetal Lung	lung
6	chr17:44963600-44966600	Weak transcription	Lung	lung
7	chr17:44964400-44968000	Enhancers	K562	blood
8	chr17:44965400-44966600	Bivalent Enhancer	HepG2	liver

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