Variant report

Variant	rs73255675
Chromosome Location	chr8:67386125-67386126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67385468..67387907-chr8:67392199..67395140,2	K562	blood:
2	chr8:67385031..67386596-chr8:67579677..67581320,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADHFE1-1	chr8:67385661-67386173	XLOC_006828
2	lnc-ADHFE1-1	chr8:67386021-67386173	XLOC_006828

Variant related genes	Relation type
ENSG00000253623	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000213865	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10095792	0.89[ASN][1000 genomes]
rs10283103	0.89[ASN][1000 genomes]
rs2718997	1.00[ASN][1000 genomes]
rs4386964	0.89[ASN][1000 genomes]
rs56001676	0.89[ASN][1000 genomes]
rs56044023	0.89[ASN][1000 genomes]
rs57394870	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59292708	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59352083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60423755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61141626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61484440	0.93[EUR][1000 genomes]
rs73255676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73257637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257644	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257648	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257650	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73257661	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
3	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
4	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain
5	chr8:67380800-67405200	Weak transcription	Aorta	Aorta
6	chr8:67381000-67388200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:67381600-67386200	Weak transcription	Ovary	ovary
8	chr8:67381800-67389400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:67382600-67386200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:67384400-67395800	Weak transcription	Osteobl	bone
11	chr8:67384600-67389600	Weak transcription	Placenta	Placenta
12	chr8:67384600-67392200	Weak transcription	NHDF-Ad	bronchial
13	chr8:67384800-67387000	Enhancers	A549	lung
14	chr8:67384800-67387400	Enhancers	Liver	Liver
15	chr8:67384800-67389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:67384800-67389400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:67384800-67389400	Weak transcription	NHLF	lung
18	chr8:67384800-67389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:67384800-67389600	Weak transcription	Psoas Muscle	Psoas
20	chr8:67384800-67389800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:67384800-67389800	Weak transcription	HUVEC	blood vessel
22	chr8:67384800-67389800	Weak transcription	NH-A	brain
23	chr8:67384800-67392200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:67384800-67392200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:67384800-67392200	Weak transcription	HSMMtube	muscle
26	chr8:67384800-67395800	Weak transcription	Left Ventricle	heart
27	chr8:67385000-67386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:67385000-67389400	Weak transcription	HSMM	muscle
29	chr8:67385600-67386400	Enhancers	HMEC	breast
30	chr8:67385600-67387000	Enhancers	HepG2	liver
31	chr8:67385800-67386200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:67385800-67386200	Enhancers	Fetal Intestine Small	intestine
33	chr8:67386000-67386800	Enhancers	Fetal Intestine Large	intestine
34	chr8:67386000-67388600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:67386000-67389600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:67386000-67389800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:67386000-67389800	Weak transcription	Hela-S3	cervix
38	chr8:67386000-67390000	Weak transcription	NHEK	skin

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