Variant report

Variant	rs55708957
Chromosome Location	chr8:130129420-130129421
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	chr8:130128975..130131207-chr8:130134226..130136520,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11774875	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11777036	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11777951	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11990860	0.93[AMR][1000 genomes]
rs11996876	0.80[AMR][1000 genomes]
rs11997291	0.93[AMR][1000 genomes]
rs1372452	0.80[AMR][1000 genomes]
rs34709271	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4354273	0.93[AMR][1000 genomes]
rs4443626	0.86[AMR][1000 genomes]
rs4493879	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55801260	0.90[AMR][1000 genomes]
rs55802114	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55836025	0.90[AMR][1000 genomes]
rs55870212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55925307	0.80[AMR][1000 genomes]
rs56000240	0.93[AMR][1000 genomes]
rs56065964	0.90[AMR][1000 genomes]
rs56099035	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56100663	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56308035	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56853677	0.80[AMR][1000 genomes]
rs62525667	0.80[AMR][1000 genomes]
rs62525668	0.80[AMR][1000 genomes]
rs62525669	0.80[AMR][1000 genomes]
rs62525670	0.80[AMR][1000 genomes]
rs62525671	0.86[AMR][1000 genomes]
rs62525713	0.93[AMR][1000 genomes]
rs62525715	0.93[AMR][1000 genomes]
rs62525716	0.93[AMR][1000 genomes]
rs62525721	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62525724	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62525744	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62525745	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72728800	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72730206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730211	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72730212	0.80[EUR][1000 genomes]
rs72730213	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72730215	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7817443	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891442	chr8:130016499-130130604	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891443	chr8:130016499-130220746	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv891444	chr8:130024642-130130604	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv612228	chr8:130115644-130130604	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130120000-130129800	Weak transcription	Thymus	Thymus
2	chr8:130124200-130133200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:130125000-130131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:130126000-130131200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:130126400-130160600	Weak transcription	Fetal Thymus	thymus
6	chr8:130126800-130130200	Weak transcription	Fetal Lung	lung
7	chr8:130128400-130130000	Genic enhancers	Dnd41	blood
8	chr8:130128600-130135200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:130129000-130131000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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