Variant report

Variant	rs8000638
Chromosome Location	chr13:110376599-110376600
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110376117..110378721-chr13:110379998..110382162,2	K562	blood:
2	chr13:110374753..110377130-chr13:110377523..110379398,2	K562	blood:

Variant related genes	Relation type
ENSG00000234854	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1004409	0.81[AMR][1000 genomes]
rs1411552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1550041	0.81[AMR][1000 genomes]
rs1550044	0.95[ASN][1000 genomes]
rs1556225	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1928937	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4773073	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61962673	0.81[AMR][1000 genomes]
rs7336416	0.90[ASN][1000 genomes]
rs7990738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs892672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs913947	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs913952	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9301407	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9559633	0.81[AMR][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	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110368600-110377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:110369200-110376800	Weak transcription	Adipose Nuclei	Adipose
3	chr13:110372600-110377800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:110373000-110382000	Enhancers	Liver	Liver
5	chr13:110373200-110377200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:110373200-110381200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:110373400-110377600	Weak transcription	Brain Hippocampus Middle	brain
8	chr13:110373600-110377200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:110373600-110377200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:110373600-110377200	Weak transcription	Brain Anterior Caudate	brain
11	chr13:110373600-110377400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:110373600-110377800	Weak transcription	Brain Substantia Nigra	brain
13	chr13:110373600-110377800	Weak transcription	Stomach Mucosa	stomach
14	chr13:110373600-110381200	Weak transcription	Brain Angular Gyrus	brain
15	chr13:110373600-110381200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:110374200-110376800	Weak transcription	Brain Germinal Matrix	brain
17	chr13:110374200-110377400	Genic enhancers	Dnd41	blood
18	chr13:110374600-110377000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:110374800-110377000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:110375000-110381600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr13:110376400-110377000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:110376400-110381000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:110376400-110381000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr13:110376400-110381200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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