Variant report

Variant	rs57893181
Chromosome Location	chr2:134339568-134339569
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58043268	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59731226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994270	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72994274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134325000-134342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:134326600-134344200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:134330200-134339800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:134332200-134339800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:134335000-134343800	Weak transcription	Esophagus	oesophagus
6	chr2:134335600-134340000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134335600-134340000	Enhancers	HUVEC	blood vessel
8	chr2:134336000-134340200	Enhancers	Fetal Heart	heart
9	chr2:134336000-134343800	Weak transcription	Gastric	stomach
10	chr2:134336400-134339600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:134336400-134340000	Enhancers	HMEC	breast
12	chr2:134336600-134340000	Enhancers	NH-A	brain
13	chr2:134336600-134340000	Enhancers	NHLF	lung
14	chr2:134336600-134340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:134337000-134340000	Enhancers	Left Ventricle	heart
16	chr2:134337200-134340000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:134337200-134340400	Enhancers	NHEK	skin
18	chr2:134337200-134344800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:134337800-134343400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:134338200-134339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:134338400-134340400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:134338400-134343800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:134338600-134340200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:134338800-134339600	Enhancers	Hela-S3	cervix
25	chr2:134338800-134340000	Enhancers	Pancreas	Pancrea
26	chr2:134339000-134340000	Enhancers	Lung	lung
27	chr2:134339200-134343800	Weak transcription	Aorta	Aorta
28	chr2:134339200-134348400	Weak transcription	Right Ventricle	heart
29	chr2:134339400-134344600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:134339400-134344800	Weak transcription	Fetal Muscle Leg	muscle

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