Variant report

Variant	rs4652135
Chromosome Location	chr1:175837673-175837674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175830385..175834328-chr1:175834992..175839373,5	K562	blood:
2	chr1:175836721..175839174-chr1:175839948..175842188,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10798418	0.88[ASN][1000 genomes]
rs12034224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12071278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570926	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41266106	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4652137	0.90[CHB][hapmap];0.93[CHD][hapmap];0.84[MEX][hapmap];0.88[ASN][1000 genomes]
rs532799	0.84[EUR][1000 genomes]
rs565960	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522255	chr1:175827683-175849898	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4652135	C1orf105	cis	cerebellum	SCAN
rs4652135	SNORD78	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175831600-175840000	Enhancers	Brain Hippocampus Middle	brain
2	chr1:175831600-175842000	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr1:175834600-175839000	Enhancers	Brain Germinal Matrix	brain
4	chr1:175835000-175841600	Weak transcription	Fetal Lung	lung
5	chr1:175835600-175840200	Weak transcription	Fetal Heart	heart
6	chr1:175835600-175848200	Weak transcription	Aorta	Aorta
7	chr1:175836000-175837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:175836000-175839600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:175836000-175841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:175836000-175845400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:175836200-175837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:175836200-175837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:175836200-175838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:175836200-175838000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:175836200-175838400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:175836200-175838600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:175836400-175838000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:175837200-175838000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:175837400-175839800	Enhancers	Brain Anterior Caudate	brain
20	chr1:175837400-175843200	Enhancers	Brain Substantia Nigra	brain

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