Variant report

Variant	rs1901452
Chromosome Location	chr2:134391214-134391215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10174467	0.90[ASN][1000 genomes]
rs10200864	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10928457	0.86[EUR][1000 genomes]
rs12614645	0.86[EUR][1000 genomes]
rs13382906	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13402567	0.91[ASN][1000 genomes]
rs13418989	0.86[ASN][1000 genomes]
rs13419711	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1614797	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1622528	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1653790	0.90[ASN][1000 genomes]
rs1653791	0.88[ASN][1000 genomes]
rs1653792	0.90[ASN][1000 genomes]
rs1653794	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1669465	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1669469	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16827604	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1901431	0.86[ASN][1000 genomes]
rs1901451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2167530	0.90[ASN][1000 genomes]
rs4362615	0.85[ASN][1000 genomes]
rs61112423	0.91[ASN][1000 genomes]
rs6430435	0.90[ASN][1000 genomes]
rs6752312	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6758320	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73000199	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7569801	0.86[ASN][1000 genomes]
rs7586760	0.86[ASN][1000 genomes]
rs7593735	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7599633	0.86[ASN][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv2934	chr2:134368478-134412454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv998920	chr2:134382097-134424640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134386800-134392000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134388400-134391600	Weak transcription	Right Atrium	heart
3	chr2:134389400-134391600	Enhancers	Brain Substantia Nigra	brain
4	chr2:134389600-134391600	Enhancers	Brain Hippocampus Middle	brain
5	chr2:134389800-134394400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:134390000-134391400	Enhancers	Brain Anterior Caudate	brain
7	chr2:134390600-134391400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:134390600-134391600	Enhancers	Fetal Heart	heart
9	chr2:134390600-134392000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:134390600-134392200	Enhancers	HMEC	breast
11	chr2:134390800-134391400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:134390800-134391800	Enhancers	NH-A	brain
13	chr2:134390800-134392000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:134390800-134392000	Enhancers	Placenta	Placenta
15	chr2:134390800-134392000	Flanking Active TSS	NHEK	skin
16	chr2:134390800-134392400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:134391000-134391600	Enhancers	NHDF-Ad	bronchial
18	chr2:134391000-134392000	Active TSS	Brain Angular Gyrus	brain
19	chr2:134391000-134392200	Enhancers	Osteobl	bone
20	chr2:134391200-134391400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:134391200-134392000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:134391200-134392000	Active TSS	Brain Cingulate Gyrus	brain
23	chr2:134391200-134392200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:134391200-134392200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:134391200-134392400	Weak transcription	Left Ventricle	heart

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