Variant report

Variant	rs72919573
Chromosome Location	chr1:59308029-59308030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59307170..59312089-chr1:59313768..59319436,8	K562	blood:
2	chr1:59243405..59252620-chr1:59299418..59311853,24	K562	blood:
3	chr1:59300670..59305165-chr1:59305203..59308556,4	K562	blood:
4	chr1:59307801..59310593-chr1:59351132..59353384,2	K562	blood:
5	chr1:59243279..59246894-chr1:59305976..59310212,4	K562	blood:
6	chr1:59307170..59309443-chr1:59313768..59316311,4	K562	blood:
7	chr1:59303665..59305451-chr1:59307056..59309541,2	K562	blood:
8	chr1:59247870..59251068-chr1:59306133..59308836,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231740	Chromatin interaction
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs3885883	1.00[EUR][1000 genomes]
rs56047424	1.00[EUR][1000 genomes]
rs57500803	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59164731	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59193866	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59558908	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60869213	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61294750	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61659376	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911516	0.86[AFR][1000 genomes]
rs72911521	1.00[EUR][1000 genomes]
rs72911524	1.00[EUR][1000 genomes]
rs72911526	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911528	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911533	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911535	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911538	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911540	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911542	0.93[AFR][1000 genomes]
rs72911543	1.00[EUR][1000 genomes]
rs72911546	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911550	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72911552	1.00[EUR][1000 genomes]
rs72911559	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913573	1.00[EUR][1000 genomes]
rs72913576	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913582	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913586	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913589	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913594	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913595	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72913598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913599	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913601	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915503	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915504	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915505	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915506	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915510	1.00[AFR][1000 genomes]
rs72915521	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915522	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915524	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919563	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919564	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919582	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919586	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519169	1.00[EUR][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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1014087	chr1:59286306-59334393	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59294000-59311000	Weak transcription	Gastric	stomach
2	chr1:59300600-59314800	Weak transcription	Aorta	Aorta
3	chr1:59303400-59308200	Enhancers	NHDF-Ad	bronchial
4	chr1:59304800-59308200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:59306200-59308200	Enhancers	Stomach Mucosa	stomach
6	chr1:59306600-59314000	Weak transcription	Osteobl	bone
7	chr1:59306800-59313200	Weak transcription	NHEK	skin
8	chr1:59306800-59314000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:59307000-59308200	Enhancers	K562	blood
10	chr1:59307000-59309800	Weak transcription	HMEC	breast
11	chr1:59307000-59312800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:59307200-59308200	Enhancers	A549	lung
13	chr1:59307200-59309600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:59307200-59311600	Weak transcription	Lung	lung
15	chr1:59307400-59308800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:59307400-59313200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:59307600-59308200	Enhancers	Small Intestine	intestine
18	chr1:59308000-59312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:59308000-59313400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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