Variant report

Variant	rs331086
Chromosome Location	chr5:127759778-127759779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127759519..127761302-chr5:127762913..127765694,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10053025	0.81[JPT][hapmap]
rs17164127	0.91[JPT][hapmap]
rs191347	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572968	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs331084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805652	0.91[JPT][hapmap]
rs6862508	0.91[JPT][hapmap]
rs6868664	0.91[JPT][hapmap]
rs6881855	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv599698	chr5:127744825-127850855	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv1015650	chr5:127745955-127866566	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs331086	PHAX	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
3	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
4	chr5:127743000-127760400	Weak transcription	A549	lung
5	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
8	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:127747400-127772400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
11	chr5:127748800-127772400	Weak transcription	NH-A	brain
12	chr5:127749800-127763400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:127749800-127772400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:127750600-127760600	Weak transcription	Fetal Heart	heart
15	chr5:127751200-127772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:127752200-127764000	Weak transcription	Fetal Stomach	stomach
17	chr5:127754400-127762000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:127754400-127772200	Weak transcription	NHEK	skin
19	chr5:127754800-127760800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:127756600-127760200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:127756600-127760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:127756800-127772400	Weak transcription	HMEC	breast
23	chr5:127757000-127759800	Weak transcription	Fetal Kidney	kidney
24	chr5:127757400-127760000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:127758200-127760600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:127758400-127781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:127758600-127760000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:127759200-127759800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:127759200-127760000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:127759200-127760200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:127759400-127760000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:127759400-127760000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr5:127759600-127760000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:127759600-127760600	Enhancers	Brain Germinal Matrix	brain

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