Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8997453..9000421-chr18:9008613..9011435,4	K562	blood:
2	chr18:8998101..9000276-chr18:9132895..9136120,3	K562	blood:

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

Variant related genes	Relation type
ENSG00000266053	Chromatin interaction

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

rs_ID	r²[population]
rs11663875	1.00[ASN][1000 genomes]
rs12605754	0.83[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	1.00[ASN][1000 genomes]
rs62087094	1.00[ASN][1000 genomes]
rs66469248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66781209	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67217398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67743220	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]
rs9947345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9954967	0.91[ASN][1000 genomes]
rs9956612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9967281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[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:20 , 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	chr18:8996800-8998600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:8997000-8998600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:8997000-8998600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:8997000-8998600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:8997200-8998600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:8997200-8998600	Weak transcription	Liver	Liver
12	chr18:8997200-8999000	Weak transcription	HMEC	breast
13	chr18:8997200-9001600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:8997400-8998400	Weak transcription	NHDF-Ad	bronchial
15	chr18:8997600-8998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:8997600-8998600	Enhancers	K562	blood
17	chr18:8997800-8998400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:8997800-8999200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr18:8997800-8999400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:8998000-8999200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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