Variant report

Variant	rs151852
Chromosome Location	chr5:127227576-127227577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127220419..127223982-chr5:127224683..127227982,4	MCF-7	breast:
2	chr5:127227515..127229818-chr5:127231970..127233966,2	K562	blood:
3	chr5:127227228..127230654-chr5:127416663..127421842,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10491255	0.96[ASN][1000 genomes]
rs13155003	0.97[ASN][1000 genomes]
rs13166824	0.97[ASN][1000 genomes]
rs13187008	0.97[ASN][1000 genomes]
rs151848	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151850	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151851	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164526	0.94[ASN][1000 genomes]
rs17164533	0.96[ASN][1000 genomes]
rs17164534	0.96[ASN][1000 genomes]
rs17839667	0.96[ASN][1000 genomes]
rs245161	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245162	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245164	0.96[EUR][1000 genomes]
rs245166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245168	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245169	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245170	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836339	0.97[ASN][1000 genomes]
rs58316019	0.95[ASN][1000 genomes]
rs62375865	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734642	0.93[ASN][1000 genomes]
rs7708799	0.97[ASN][1000 genomes]
rs7723029	0.94[ASN][1000 genomes]
rs9327454	0.92[ASN][1000 genomes]
rs9327455	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127221200-127228200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:127221200-127228200	Weak transcription	Fetal Stomach	stomach
3	chr5:127222000-127228600	Weak transcription	Left Ventricle	heart
4	chr5:127222200-127227600	Weak transcription	HSMMtube	muscle
5	chr5:127222600-127228600	Weak transcription	Fetal Intestine Small	intestine
6	chr5:127226400-127228000	Enhancers	A549	lung
7	chr5:127226600-127229200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:127227200-127228200	Enhancers	HUVEC	blood vessel
9	chr5:127227200-127229000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:127227200-127229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:127227200-127229000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:127227200-127229200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127227200-127229200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:127227200-127229400	Enhancers	Brain Substantia Nigra	brain
15	chr5:127227200-127229400	Enhancers	HMEC	breast
16	chr5:127227200-127229800	Enhancers	NHEK	skin
17	chr5:127227400-127227800	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:127227400-127228400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:127227400-127228400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:127227400-127228400	Enhancers	Brain Hippocampus Middle	brain
21	chr5:127227400-127228600	Enhancers	Brain Anterior Caudate	brain
22	chr5:127227400-127229000	Enhancers	Stomach Mucosa	stomach
23	chr5:127227400-127229000	Enhancers	HSMM	muscle
24	chr5:127227400-127229200	Enhancers	Fetal Heart	heart
25	chr5:127227400-127229400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:127227400-127231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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