Variant report

Variant	rs272527
Chromosome Location	chr1:45059829-45059830
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	chr1:45058729..45060647-chr1:45106488..45109456,2	K562	blood:

Variant related genes	Relation type
ENSG00000187147	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs156650	0.81[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs270705	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs275075	0.84[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.89[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs272527	SNORD55	cis	parietal	SCAN
rs272527	CYP4Z2P	cis	parietal	SCAN
rs272527	GPBP1L1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
2	chr1:45047800-45060000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:45049000-45062800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:45053200-45063600	Enhancers	Brain Hippocampus Middle	brain
5	chr1:45055400-45061600	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:45057600-45060600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:45057600-45068800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:45058200-45063200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:45058200-45063800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:45058600-45060000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:45058800-45060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:45058800-45060000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:45058800-45060000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:45058800-45060000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:45058800-45060000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:45059000-45060000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:45059000-45060000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:45059000-45060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:45059000-45060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:45059000-45060000	Weak transcription	Brain Substantia Nigra	brain
21	chr1:45059000-45060200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:45059000-45060600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:45059000-45062400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:45059600-45061000	Enhancers	Brain Angular Gyrus	brain
25	chr1:45059600-45061200	Enhancers	Brain Anterior Caudate	brain

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