Variant report

Variant	rs732292
Chromosome Location	chr1:175832217-175832218
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	chr1:175830385..175834328-chr1:175834992..175839373,5	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10913088	0.81[EUR][1000 genomes]
rs4652132	0.83[EUR][1000 genomes]
rs732291	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs732292	RASAL2	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175827400-175832800	Weak transcription	Fetal Brain Female	brain
2	chr1:175829800-175835000	Enhancers	Fetal Intestine Large	intestine
3	chr1:175830400-175832600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:175830400-175834800	Enhancers	Fetal Intestine Small	intestine
5	chr1:175830600-175832600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr1:175830800-175833000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:175830800-175834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:175831200-175832800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:175831400-175836000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:175831400-175836400	Enhancers	Brain Anterior Caudate	brain
11	chr1:175831600-175833000	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:175831600-175833400	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:175831600-175834000	Enhancers	Brain Germinal Matrix	brain
14	chr1:175831600-175834200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr1:175831600-175834200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:175831600-175834200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:175831600-175834800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:175831600-175836200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:175831600-175837000	Enhancers	Brain Substantia Nigra	brain
20	chr1:175831600-175837200	Enhancers	Brain Angular Gyrus	brain
21	chr1:175831600-175840000	Enhancers	Brain Hippocampus Middle	brain
22	chr1:175831600-175842000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:175831800-175832600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:175831800-175833800	Enhancers	Fetal Muscle Leg	muscle
25	chr1:175831800-175834000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr1:175831800-175834600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:175831800-175836200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:175831800-175836200	Enhancers	Fetal Brain Male	brain
29	chr1:175832000-175832600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:175832000-175832600	Enhancers	Small Intestine	intestine
31	chr1:175832000-175832800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:175832000-175834200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:175832000-175836200	Enhancers	Cortex derived primary cultured neurospheres	brain

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