Variant report

Variant	rs6470739
Chromosome Location	chr8:130570669-130570670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130517323..130520300-chr8:130570281..130571923,2	K562	blood:
2	chr8:128746601..128750747-chr8:130569755..130572341,3	K562	blood:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10956482	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548063	0.85[EUR][1000 genomes]
rs12677963	0.82[CHD][hapmap]
rs1594774	0.85[EUR][1000 genomes]
rs16904119	0.85[EUR][1000 genomes]
rs2043404	0.85[EUR][1000 genomes]
rs4319050	0.85[EUR][1000 genomes]
rs61453473	0.85[EUR][1000 genomes]
rs6470742	0.82[CEU][hapmap];0.82[CHD][hapmap];0.87[MEX][hapmap];0.84[EUR][1000 genomes]
rs6982371	0.81[EUR][1000 genomes]
rs6982553	0.85[EUR][1000 genomes]
rs7000289	0.81[CHD][hapmap]
rs7000320	0.85[EUR][1000 genomes]
rs7000372	0.87[MEX][hapmap];0.84[EUR][1000 genomes]
rs7006214	0.85[EUR][1000 genomes]
rs7011870	0.84[EUR][1000 genomes]
rs7014560	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72609887	0.87[EUR][1000 genomes]
rs7829245	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7831493	0.83[EUR][1000 genomes]
rs7840067	0.85[EUR][1000 genomes]
rs7846327	0.82[CHD][hapmap];0.96[MEX][hapmap];0.85[EUR][1000 genomes]
rs892350	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs892351	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9642890	0.85[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6470739	KCNQ3	cis	parietal	SCAN
rs6470739	PHF20L1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130565200-130571000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:130567200-130572000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:130567200-130572000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:130568600-130572600	Transcr. at gene 5' and 3'	K562	blood
5	chr8:130568800-130587000	Weak transcription	Thymus	Thymus
6	chr8:130569200-130570800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:130569600-130571200	Enhancers	Dnd41	blood
8	chr8:130569600-130572200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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