Variant report

Variant	rs56252399
Chromosome Location	chr1:166903666-166903667
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166897470..166899365-chr1:166901895..166904377,3	K562	blood:
2	chr1:166897470..166899679-chr1:166901895..166904408,3	K562	blood:
3	chr1:166903011..166904959-chr1:166907854..166909717,2	K562	blood:
4	chr1:166902983..166904959-chr1:166908217..166910309,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489574	0.83[AFR][1000 genomes]
rs16858144	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16858259	0.95[EUR][1000 genomes]
rs33958744	0.83[AFR][1000 genomes]
rs36110323	0.83[AFR][1000 genomes]
rs36119409	0.83[AFR][1000 genomes]
rs41269700	1.00[EUR][1000 genomes]
rs55675362	0.85[AMR][1000 genomes]
rs55728917	0.84[EUR][1000 genomes]
rs55737217	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55778013	1.00[EUR][1000 genomes]
rs55866154	0.85[AMR][1000 genomes]
rs56114212	0.84[EUR][1000 genomes]
rs56190430	0.90[EUR][1000 genomes]
rs56290988	0.85[AMR][1000 genomes]
rs56383249	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57274627	1.00[EUR][1000 genomes]
rs59862115	0.90[EUR][1000 genomes]
rs73026741	1.00[EUR][1000 genomes]
rs73026777	0.84[EUR][1000 genomes]
rs73026798	0.84[EUR][1000 genomes]
rs73026802	0.84[EUR][1000 genomes]
rs73028838	0.84[EUR][1000 genomes]
rs74119526	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166880800-166909600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:166890400-166906600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:166890800-166904400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:166890800-166907400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:166890800-166907600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:166891000-166916400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:166892000-166913800	Weak transcription	Thymus	Thymus
8	chr1:166892800-166904600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:166895600-166903800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:166895800-166903800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:166895800-166906600	Weak transcription	Right Ventricle	heart
12	chr1:166896200-166904600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:166896400-166904200	Weak transcription	Dnd41	blood
14	chr1:166896400-166910400	Weak transcription	Left Ventricle	heart
15	chr1:166897000-166905600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:166897600-166906000	Weak transcription	Fetal Heart	heart
17	chr1:166899600-166913000	Weak transcription	Brain Germinal Matrix	brain
18	chr1:166900400-166908600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:166900800-166913600	Weak transcription	GM12878-XiMat	blood
20	chr1:166901600-166906000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:166902400-166904200	Enhancers	HSMMtube	muscle
22	chr1:166902400-166904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:166902600-166903800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:166902600-166904000	Enhancers	HSMM	muscle
25	chr1:166903200-166904000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:166903600-166906800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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