Variant report

Variant	rs245167
Chromosome Location	chr5:127229195-127229196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127227515..127229818-chr5:127231970..127233966,2	K562	blood:
2	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: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10042555	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10058856	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs111941	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs111942	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs122730	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs122731	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs122734	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12332194	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12332385	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12332386	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12332552	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1421748	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421749	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421751	0.82[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151853	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151856	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151858	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151859	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs151882	0.91[CEU][hapmap];0.87[JPT][hapmap]
rs1520247	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs173444	0.96[ASN][1000 genomes]
rs187381	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs193495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006195	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108653	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2409033	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs245156	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245158	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs245160	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245172	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245173	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245174	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245175	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245181	0.92[CEU][hapmap];0.82[JPT][hapmap]
rs245186	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs245192	0.91[CEU][hapmap];0.86[JPT][hapmap]
rs245195	0.95[CEU][hapmap];0.86[JPT][hapmap]
rs245221	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245237	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2544779	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2544780	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2681512	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2764766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127226600-127229200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:127227200-127229200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:127227200-127229200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:127227200-127229400	Enhancers	Brain Substantia Nigra	brain
5	chr5:127227200-127229400	Enhancers	HMEC	breast
6	chr5:127227200-127229800	Enhancers	NHEK	skin
7	chr5:127227400-127229200	Enhancers	Fetal Heart	heart
8	chr5:127227400-127229400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:127227400-127231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:127227600-127229200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:127227600-127229200	Enhancers	Hela-S3	cervix
12	chr5:127227600-127229400	Enhancers	Brain Angular Gyrus	brain
13	chr5:127227800-127229200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:127227800-127229200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr5:127228000-127229200	Flanking Active TSS	A549	lung
16	chr5:127228200-127229200	Enhancers	Fetal Stomach	stomach
17	chr5:127228600-127229200	Enhancers	Right Ventricle	heart
18	chr5:127228800-127229200	Enhancers	Psoas Muscle	Psoas
19	chr5:127228800-127229200	Enhancers	HUVEC	blood vessel
20	chr5:127228800-127229400	Enhancers	Small Intestine	intestine
21	chr5:127228800-127234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:127229000-127229200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:127229000-127229200	Enhancers	Brain Anterior Caudate	brain
24	chr5:127229000-127229200	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr5:127229000-127229200	Enhancers	Brain Hippocampus Middle	brain
26	chr5:127229000-127229200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:127229000-127229400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr5:127229000-127234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:127229000-127234200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:127229000-127234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:127229000-127234400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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