Variant report

Variant	rs72994298
Chromosome Location	chr2:134337934-134337935
allele	C/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]
rs57893181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58043268	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59731226	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994270	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72994274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72996109	1.00[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:37 , 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	chr2:134332000-134339000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:134332200-134339800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:134332600-134338800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:134332600-134338800	Weak transcription	Right Atrium	heart
8	chr2:134333800-134338800	Weak transcription	Pancreas	Pancrea
9	chr2:134334600-134338800	Weak transcription	Right Ventricle	heart
10	chr2:134335000-134343800	Weak transcription	Esophagus	oesophagus
11	chr2:134335600-134340000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:134335600-134340000	Enhancers	HUVEC	blood vessel
13	chr2:134336000-134338400	Enhancers	Brain Anterior Caudate	brain
14	chr2:134336000-134340200	Enhancers	Fetal Heart	heart
15	chr2:134336000-134343800	Weak transcription	Gastric	stomach
16	chr2:134336200-134339000	Weak transcription	Lung	lung
17	chr2:134336200-134339400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:134336200-134339400	Enhancers	Osteobl	bone
19	chr2:134336400-134339600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:134336400-134340000	Enhancers	HMEC	breast
21	chr2:134336600-134340000	Enhancers	NH-A	brain
22	chr2:134336600-134340000	Enhancers	NHLF	lung
23	chr2:134336600-134340200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:134336800-134339200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:134337000-134338400	Enhancers	Brain Hippocampus Middle	brain
26	chr2:134337000-134338400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:134337000-134339400	Enhancers	Fetal Muscle Leg	muscle
28	chr2:134337000-134340000	Enhancers	Left Ventricle	heart
29	chr2:134337200-134340000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:134337200-134340400	Enhancers	NHEK	skin
31	chr2:134337200-134344800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:134337400-134338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:134337600-134338800	Weak transcription	Hela-S3	cervix
34	chr2:134337600-134339200	Weak transcription	Brain Substantia Nigra	brain
35	chr2:134337800-134338000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:134337800-134338200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:134337800-134343400	Weak transcription	Brain Angular Gyrus	brain

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