Variant report

Variant	rs55722058
Chromosome Location	chr3:139742889-139742890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139741182..139743256-chr3:139752088..139754164,2	K562	blood:
2	chr3:139713121..139716043-chr3:139741929..139744858,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10513095	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10935365	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11715115	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11721080	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11915310	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1895857	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4271881	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683466	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55682807	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55840308	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55982759	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56132049	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6793464	0.93[EUR][1000 genomes]
rs73226905	0.90[ASN][1000 genomes]
rs7625731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv829738	chr3:139670836-139851945	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv877545	chr3:139738645-139821310	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139738600-139743600	Enhancers	Brain Hippocampus Middle	brain
2	chr3:139738800-139743200	Enhancers	Brain Substantia Nigra	brain
3	chr3:139739200-139743600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:139739600-139754400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:139739800-139743600	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:139739800-139743600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:139740000-139743400	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:139740200-139743600	Enhancers	Brain Angular Gyrus	brain
9	chr3:139740400-139743400	Enhancers	Brain Anterior Caudate	brain
10	chr3:139740600-139743600	Enhancers	Colon Smooth Muscle	Colon
11	chr3:139740800-139743000	Enhancers	Fetal Brain Male	brain
12	chr3:139740800-139743600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:139740800-139744800	Enhancers	Ovary	ovary
14	chr3:139741000-139743200	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:139741000-139743200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:139741000-139743400	Enhancers	Adipose Nuclei	Adipose
17	chr3:139741200-139743200	Enhancers	Brain Germinal Matrix	brain
18	chr3:139741200-139743200	Enhancers	Fetal Brain Female	brain
19	chr3:139741200-139743400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:139741200-139743400	Enhancers	Fetal Muscle Leg	muscle
21	chr3:139741800-139747000	Weak transcription	Right Atrium	heart
22	chr3:139742400-139743200	Enhancers	Fetal Stomach	stomach
23	chr3:139742400-139743200	Enhancers	Pancreas	Pancrea
24	chr3:139742600-139743000	Enhancers	Stomach Mucosa	stomach
25	chr3:139742600-139743000	Enhancers	HSMMtube	muscle
26	chr3:139742600-139743200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:139742600-139743400	Enhancers	Fetal Muscle Trunk	muscle
28	chr3:139742800-139747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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