Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8994783..8997467-chr18:9000144..9004591,4	K562	blood:
2	chr18:8994783..8997706-chr18:9000144..9004964,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFV2-1	chr18:8996488-8998420	XLOC_012622

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11663875	1.00[ASN][1000 genomes]
rs12605735	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12605754	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607230	1.00[ASN][1000 genomes]
rs1893146	0.91[ASN][1000 genomes]
rs2032165	0.91[ASN][1000 genomes]
rs28449557	0.97[ASN][1000 genomes]
rs28667793	1.00[ASN][1000 genomes]
rs4798746	0.91[ASN][1000 genomes]
rs60539038	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62087094	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66469248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66781209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67217398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67743220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236251	0.97[ASN][1000 genomes]
rs72942761	1.00[ASN][1000 genomes]
rs72942780	0.90[EUR][1000 genomes]
rs9954967	0.91[ASN][1000 genomes]
rs9956612	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9967281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8990600-8998800	Weak transcription	A549	lung
2	chr18:8991400-8998400	Weak transcription	Colon Smooth Muscle	Colon
3	chr18:8991400-8998600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr18:8991600-8998600	Weak transcription	NH-A	brain
5	chr18:8991800-8998600	Weak transcription	NHLF	lung
6	chr18:8994400-8996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:8995800-8997000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:8996000-8997000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:8996000-8997000	Enhancers	HUVEC	blood vessel
10	chr18:8996000-8997400	ZNF genes & repeats	K562	blood
11	chr18:8996000-8998000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr18:8996200-8996800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr18:8996200-8997200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr18:8996400-8996800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:8996400-8996800	Enhancers	NHEK	skin
16	chr18:8996400-8997000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:8996600-8997200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr18:8996600-8997200	ZNF genes & repeats	Liver	Liver
19	chr18:8996600-8997200	ZNF genes & repeats	HMEC	breast
20	chr18:8996600-8997400	ZNF genes & repeats	NHDF-Ad	bronchial
21	chr18:8996600-8998000	Enhancers	Primary neutrophils fromperipheralblood	blood

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