Variant report

Variant	rs12077259
Chromosome Location	chr1:45026717-45026718
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	chr1:45026219..45030279-chr1:45030555..45033451,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12071789	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12075767	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12077531	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079043	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12079222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1889759	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs272569	0.83[ASN][1000 genomes]
rs41390645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59776111	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7525212	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
3	chr1:45021800-45028200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:45023000-45036200	Enhancers	Brain Substantia Nigra	brain
5	chr1:45023400-45028400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:45023600-45028600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:45023600-45031000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:45023800-45027000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:45023800-45030800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:45023800-45047600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:45024400-45033200	Weak transcription	HMEC	breast
12	chr1:45025400-45028200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:45025600-45030600	Weak transcription	Brain Anterior Caudate	brain
14	chr1:45025800-45027600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:45026000-45027400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:45026000-45027400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:45026000-45027400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:45026000-45027600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:45026400-45026800	Enhancers	NHEK	skin
20	chr1:45026600-45026800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:45026600-45026800	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:45026600-45026800	Bivalent Enhancer	K562	blood
23	chr1:45026600-45027000	Enhancers	Monocytes-CD14+_RO01746	blood

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