Variant report

Variant	rs506265
Chromosome Location	chr1:175836771-175836772
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	chr1:175830385..175834328-chr1:175834992..175839373,5	K562	blood:
2	chr1:175836721..175839174-chr1:175839948..175842188,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16849335	1.00[EUR][1000 genomes]
rs4652136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474868	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs516855	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551529	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs555060	1.00[ASN][1000 genomes]
rs556946	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175831600-175837000	Enhancers	Brain Substantia Nigra	brain
2	chr1:175831600-175837200	Enhancers	Brain Angular Gyrus	brain
3	chr1:175831600-175840000	Enhancers	Brain Hippocampus Middle	brain
4	chr1:175831600-175842000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr1:175834200-175837000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:175834600-175839000	Enhancers	Brain Germinal Matrix	brain
7	chr1:175835000-175841600	Weak transcription	Fetal Lung	lung
8	chr1:175835600-175840200	Weak transcription	Fetal Heart	heart
9	chr1:175835600-175848200	Weak transcription	Aorta	Aorta
10	chr1:175835800-175836800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr1:175836000-175837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:175836000-175839600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:175836000-175841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:175836000-175845400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:175836200-175837800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:175836200-175837800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:175836200-175838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:175836200-175838000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:175836200-175838400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:175836200-175838600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:175836400-175837400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:175836400-175838000	Weak transcription	Brain Cingulate Gyrus	brain

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