Variant report

Variant	rs59628512
Chromosome Location	chr3:139191392-139191393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139186237..139189203-chr3:139191374..139194272,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10513063	0.85[ASN][1000 genomes]
rs1602626	0.90[ASN][1000 genomes]
rs1602628	0.90[ASN][1000 genomes]
rs17316181	0.90[ASN][1000 genomes]
rs17335312	0.85[ASN][1000 genomes]
rs17394620	0.90[ASN][1000 genomes]
rs17395611	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17494356	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17494482	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17560106	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844977	0.85[ASN][1000 genomes]
rs2289348	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289350	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291555	0.85[ASN][1000 genomes]
rs2307031	0.90[ASN][1000 genomes]
rs2882080	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2882081	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3772871	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3772876	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41356949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41399544	0.85[ASN][1000 genomes]
rs55922868	0.80[ASN][1000 genomes]
rs56993164	0.90[ASN][1000 genomes]
rs57707457	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57995350	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58060926	0.85[ASN][1000 genomes]
rs59958973	0.85[ASN][1000 genomes]
rs59960641	0.90[ASN][1000 genomes]
rs61034702	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61613889	0.85[ASN][1000 genomes]
rs61680644	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7428398	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1000519	chr3:139159300-139206245	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139168600-139196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:139171200-139210200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:139179800-139196600	Weak transcription	Ovary	ovary
4	chr3:139189600-139195400	Weak transcription	Small Intestine	intestine
5	chr3:139189800-139191800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
6	chr3:139190600-139192600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
7	chr3:139190800-139192000	Enhancers	Psoas Muscle	Psoas
8	chr3:139190800-139192200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:139190800-139192800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr3:139191000-139192200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:139191200-139192000	Enhancers	Fetal Muscle Leg	muscle

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