Variant report

Variant	rs270764
Chromosome Location	chr1:45024342-45024343
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	chr1:45020474..45024637-chr1:45033502..45037799,4	K562	blood:
2	chr1:45018991..45021425-chr1:45022454..45025232,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs156654	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs270765	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs270766	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs272574	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs275075	0.82[GIH][hapmap]
rs4660811	0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs270764	GUCA2B	cis	parietal	SCAN

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	chr1:45021800-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:45021800-45028200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:45022400-45024600	Enhancers	NHEK	skin
6	chr1:45023000-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:45023000-45024400	Enhancers	HMEC	breast
8	chr1:45023000-45036200	Enhancers	Brain Substantia Nigra	brain
9	chr1:45023200-45026000	Enhancers	Brain Cingulate Gyrus	brain
10	chr1:45023400-45026000	Enhancers	Brain Angular Gyrus	brain
11	chr1:45023400-45028400	Enhancers	Brain Hippocampus Middle	brain
12	chr1:45023600-45025800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:45023600-45026600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:45023600-45028600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:45023600-45031000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:45023800-45024400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:45023800-45027000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:45023800-45030800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:45023800-45047600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:45024000-45024800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:45024000-45025000	Enhancers	Brain Anterior Caudate	brain
22	chr1:45024000-45025600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:45024200-45024800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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