Variant report

Variant	rs12754891
Chromosome Location	chr1:44891656-44891657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:44884901..44887121-chr1:44891262..44893376,2	K562	blood:
2	chr1:44883788..44886401-chr1:44889805..44892762,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11210998	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211007	1.00[ASN][1000 genomes]
rs12086851	1.00[ASN][1000 genomes]
rs12091565	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3866645	0.84[EUR][1000 genomes]
rs4660276	1.00[ASN][1000 genomes]
rs4660277	1.00[ASN][1000 genomes]
rs6663541	0.84[EUR][1000 genomes]
rs6700921	0.84[EUR][1000 genomes]
rs67875295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950587	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv829715	chr1:44772309-44947790	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44886400-44891800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:44887200-44893200	Enhancers	Brain Angular Gyrus	brain
3	chr1:44888200-44895000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:44889800-44891800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr1:44889800-44895400	Enhancers	Brain Substantia Nigra	brain
6	chr1:44890000-44898800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:44890200-44895400	Enhancers	Brain Hippocampus Middle	brain
8	chr1:44890400-44892000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr1:44890400-44905400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:44890600-44894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:44890800-44891800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr1:44890800-44893800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:44890800-44894400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:44890800-44894400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:44890800-44896000	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:44891000-44893200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:44891200-44892200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:44891200-44893800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:44891200-44893800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:44891200-44894000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:44891200-44894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:44891400-44892600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:44891600-44892000	Enhancers	Fetal Heart	heart
24	chr1:44891600-44893400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:44891600-44893800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:44891600-44894400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:44891600-44901400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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