Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53700298..53702915-chr3:53705116..53707874,2	K562	blood:

Variant related genes	Relation type
ENSG00000157388	Chromatin interaction

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11130376	0.87[CEU][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11707976	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11709171	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11709565	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11712998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11713811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11719110	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11721212	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17237537	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17309406	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2232337	1.00[CHB][hapmap]
rs34500349	1.00[ASN][1000 genomes]
rs3774524	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6804675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9819463	0.82[AMR][1000 genomes];0.92[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53689600-53707400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:53692000-53707600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:53696800-53706600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:53698000-53714000	Weak transcription	Brain Substantia Nigra	brain
6	chr3:53698800-53711200	Weak transcription	Spleen	Spleen
7	chr3:53700400-53708600	Weak transcription	Pancreas	Pancrea
8	chr3:53700600-53709800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:53703800-53707000	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:53704600-53708600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:53705000-53710000	Enhancers	Fetal Lung	lung
12	chr3:53705200-53708600	Enhancers	Fetal Muscle Leg	muscle
13	chr3:53705400-53710600	Strong transcription	Fetal Intestine Small	intestine
14	chr3:53705600-53706600	Weak transcription	Fetal Brain Male	brain
15	chr3:53705600-53708600	Weak transcription	Lung	lung
16	chr3:53705800-53707000	Enhancers	Fetal Kidney	kidney
17	chr3:53705800-53707800	Enhancers	Fetal Stomach	stomach
18	chr3:53705800-53708400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:53706200-53707600	Enhancers	Adipose Nuclei	Adipose
20	chr3:53706200-53710800	Strong transcription	Fetal Intestine Large	intestine
21	chr3:53706400-53707600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:53706400-53708800	Weak transcription	Placenta	Placenta

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