Variant report

Variant	rs10956483
Chromosome Location	chr8:130572110-130572111
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:128746601..128750747-chr8:130569755..130572341,3	K562	blood:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10094039	0.95[JPT][hapmap]
rs10098310	0.81[JPT][hapmap]
rs10103048	0.91[JPT][hapmap]
rs10107630	0.86[JPT][hapmap]
rs10956485	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11785889	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12542190	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12548063	0.92[ASN][1000 genomes]
rs12677963	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13277237	0.85[JPT][hapmap]
rs1368700	0.81[CHB][hapmap]
rs1433577	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1433580	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1583333	0.81[CHB][hapmap]
rs1594774	0.91[ASN][1000 genomes]
rs16904119	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs16904121	0.81[CHB][hapmap]
rs16904123	0.81[CHB][hapmap]
rs1865223	0.85[JPT][hapmap]
rs2043404	0.92[ASN][1000 genomes]
rs2163952	0.91[JPT][hapmap]
rs2395906	0.91[JPT][hapmap]
rs4319050	0.91[ASN][1000 genomes]
rs57924547	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59292525	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61453473	0.91[ASN][1000 genomes]
rs6470742	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6470743	0.81[CHB][hapmap]
rs6982371	0.91[ASN][1000 genomes]
rs6982553	0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7000230	0.86[ASN][1000 genomes]
rs7000289	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7000320	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7000372	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7006214	0.91[ASN][1000 genomes]
rs7008811	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7011870	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs72609887	0.94[ASN][1000 genomes]
rs7831493	0.85[ASN][1000 genomes]
rs7840067	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7846327	0.90[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs9642890	0.92[ASN][1000 genomes]

Variant related diseases (count:1)

Disease	PMID	Source
White blood cell types	21738478	GWAS catalog

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130568600-130572600	Transcr. at gene 5' and 3'	K562	blood
2	chr8:130568800-130587000	Weak transcription	Thymus	Thymus
3	chr8:130569600-130572200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:130571200-130575600	Genic enhancers	Dnd41	blood
5	chr8:130572000-130572200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:130572000-130573600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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