Variant report

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16997055	1.00[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16997065	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16997069	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16997079	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16997085	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16997093	1.00[EUR][1000 genomes]
rs16997100	1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs17465348	1.00[EUR][1000 genomes]
rs17465355	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16997048	ABCB9	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40310800-40329600	Weak transcription	Thymus	Thymus
2	chr21:40317800-40324000	Enhancers	NHDF-Ad	bronchial
3	chr21:40318000-40331200	Weak transcription	Aorta	Aorta
4	chr21:40318400-40322600	Weak transcription	Fetal Lung	lung
5	chr21:40318800-40326400	Weak transcription	Left Ventricle	heart
6	chr21:40318800-40326600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:40319400-40323400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:40319800-40323200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr21:40319800-40326400	Weak transcription	Spleen	Spleen
10	chr21:40320400-40322600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:40321000-40322800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:40321000-40327400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:40321600-40323600	Enhancers	NHLF	lung
14	chr21:40322000-40323600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr21:40322000-40325000	Enhancers	Fetal Intestine Large	intestine
16	chr21:40322000-40325200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr21:40322400-40323000	Weak transcription	Fetal Intestine Small	intestine
18	chr21:40322400-40323200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:40322400-40323600	Enhancers	Osteobl	bone
20	chr21:40322400-40326000	Weak transcription	Stomach Mucosa	stomach

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