Variant report

Variant	rs12065045
Chromosome Location	chr1:45007595-45007596
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	chr1:44999941..45002884-chr1:45004483..45007957,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11211012	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12403454	0.92[GIH][hapmap]
rs3896232	0.97[GIH][hapmap]
rs746733	0.92[GIH][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12065045	MKNK1	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45017800	Weak transcription	Right Atrium	heart
2	chr1:44998800-45022000	Weak transcription	HepG2	liver
3	chr1:45000200-45008200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:45003600-45007800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:45004800-45015200	Enhancers	Brain Substantia Nigra	brain
6	chr1:45005000-45008200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:45005000-45009600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:45005200-45008000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr1:45005200-45008200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:45005200-45008400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:45005400-45008400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:45005400-45009800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:45005600-45008200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:45005800-45008000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:45006000-45007600	Weak transcription	Brain Anterior Caudate	brain
16	chr1:45006000-45008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:45006200-45007800	Genic enhancers	Primary hematopoietic stem cells	blood
18	chr1:45006200-45007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:45006400-45008000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:45006600-45007600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:45006600-45007600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:45006600-45007600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:45007000-45007800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:45007200-45008000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr1:45007200-45008400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:45007200-45008800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:45007200-45015800	Enhancers	Brain Angular Gyrus	brain
28	chr1:45007400-45008000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:45007400-45008000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr1:45007400-45008200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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