Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17514979..17516767-chr11:17519938..17522718,2	K562	blood:
2	chr11:17513527..17517514-chr11:17518816..17522718,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCC8-2	chr11:17515447-17516640	NONHSAT018237

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12278908	0.89[ASN][1000 genomes]
rs12278956	0.89[ASN][1000 genomes]
rs12576915	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072224	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2072231	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2072232	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2072233	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2355018	0.89[ASN][1000 genomes]
rs2355020	0.87[AMR][1000 genomes]
rs4756894	0.85[AMR][1000 genomes]
rs4756896	0.87[AMR][1000 genomes]
rs4756897	0.87[AMR][1000 genomes]
rs4757533	0.85[AMR][1000 genomes]
rs4757536	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57527755	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58158338	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6486372	0.90[ASN][1000 genomes]
rs6486374	0.85[AMR][1000 genomes]
rs6486375	0.85[AMR][1000 genomes]
rs6486376	0.85[AMR][1000 genomes]
rs6486377	0.85[AMR][1000 genomes]
rs886294	0.89[ASN][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467714	chr11:17513147-17521825	Weak transcription Bivalent Enhancer Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv553585	chr11:17513147-17521825	Bivalent Enhancer Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17511200-17526000	Weak transcription	Brain Substantia Nigra	brain
2	chr11:17512600-17530000	Weak transcription	Right Atrium	heart
3	chr11:17513600-17530600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:17514800-17522800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:17515000-17516200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr11:17515000-17523600	Weak transcription	Dnd41	blood
7	chr11:17515400-17517800	Weak transcription	Colonic Mucosa	Colon
8	chr11:17515600-17524600	Strong transcription	Fetal Intestine Large	intestine
9	chr11:17515800-17518600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr11:17516000-17518000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:17516000-17519600	Weak transcription	Gastric	stomach
12	chr11:17516000-17523000	Strong transcription	Duodenum Mucosa	Duodenum

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