Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:211772283..211774202-chr1:211774309..211776934,2	MCF-7	breast:
2	chr1:211773176..211775431-chr1:211786390..211787967,2	K562	blood:
3	chr1:211770870..211774910-chr1:211776208..211782840,10	K562	blood:
4	chr1:211772625..211775526-chr1:211823895..211826461,2	K562	blood:
5	chr1:211769129..211771317-chr1:211772525..211775535,3	K562	blood:

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

rs_ID	r²[population]
rs11583462	0.81[ASN][1000 genomes]
rs1867376	1.00[CHB][hapmap]
rs35258060	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61849053	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6540690	0.93[YRI][hapmap];0.95[AFR][1000 genomes]
rs6540691	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6661565	1.00[JPT][hapmap]
rs6684175	1.00[CHB][hapmap]
rs676520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs726986	1.00[CHB][hapmap]
rs7518338	0.89[AFR][1000 genomes]
rs7520829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536267	1.00[CHB][hapmap]
rs7550089	1.00[CHB][hapmap]
rs894856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429875	1.00[CHB][hapmap]
rs9430073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430074	1.00[CHB][hapmap]
rs9430075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6702177	LGTN	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211757400-211775200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:211770200-211775200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:211770600-211775400	Weak transcription	Liver	Liver
4	chr1:211771600-211775400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:211771800-211775200	Weak transcription	NHDF-Ad	bronchial
7	chr1:211771800-211775400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:211771800-211775400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:211771800-211775600	Weak transcription	NHLF	lung
10	chr1:211771800-211776000	Weak transcription	Osteobl	bone
11	chr1:211772200-211778000	Enhancers	Placenta	Placenta
12	chr1:211772400-211775400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:211772600-211780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:211773200-211774600	Weak transcription	HepG2	liver
15	chr1:211773200-211775600	Weak transcription	K562	blood
16	chr1:211773200-211776000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search: