Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:160471934..160475202-chr3:160484365..160487464,3	MCF-7	breast:
2	chr3:160484548..160486962-chr3:160492143..160493785,2	K562	blood:
3	chr3:160485944..160487804-chr3:160779253..160781559,2	K562	blood:

Variant related genes	Relation type
ENSG00000163590	Chromatin interaction
ENSG00000260572	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10513559	1.00[YRI][hapmap]
rs11708813	1.00[YRI][hapmap]
rs11716265	1.00[YRI][hapmap]
rs12637922	0.89[ASW][hapmap]
rs13064176	1.00[YRI][hapmap]
rs13089559	1.00[YRI][hapmap]
rs13092102	1.00[YRI][hapmap]
rs1455873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17236746	1.00[YRI][hapmap]
rs17826438	1.00[YRI][hapmap]
rs2121718	1.00[YRI][hapmap]
rs2886905	0.89[ASW][hapmap]
rs2886909	0.89[ASW][hapmap]
rs4679922	1.00[YRI][hapmap]
rs6764019	1.00[YRI][hapmap]
rs6781371	0.89[ASW][hapmap]
rs6799160	1.00[YRI][hapmap]
rs9790132	1.00[YRI][hapmap]
rs9839885	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9883862	0.89[ASW][hapmap]

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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2367242	IFT80	cis	parietal	SCAN
rs2367242	PPM1L	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160475800-160497200	Weak transcription	Left Ventricle	heart
2	chr3:160476000-160496400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:160477400-160489600	Weak transcription	Fetal Heart	heart
4	chr3:160477600-160489800	Weak transcription	Brain Anterior Caudate	brain
5	chr3:160477600-160497000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:160477600-160498200	Weak transcription	Stomach Mucosa	stomach
7	chr3:160477800-160488200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:160477800-160497800	Weak transcription	Brain Angular Gyrus	brain
9	chr3:160482000-160486400	Weak transcription	Psoas Muscle	Psoas
10	chr3:160483400-160489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:160483800-160488400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:160483800-160489400	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:160484400-160496600	Weak transcription	Primary T cells from cord blood	blood
14	chr3:160485800-160486200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:160485800-160487200	Enhancers	Skeletal Muscle Female	skeletal muscle

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