Variant report

Variant	rs331087
Chromosome Location	chr5:127755378-127755379
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10040225	0.89[JPT][hapmap]
rs10463844	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs1092414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11241957	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs11241959	0.85[CEU][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.80[TSI][hapmap]
rs12656510	0.80[JPT][hapmap]
rs1435514	0.89[JPT][hapmap]
rs17677603	0.89[JPT][hapmap]
rs1858079	0.89[JPT][hapmap]
rs186685	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2263510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409539	0.89[JPT][hapmap]
rs331078	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs331083	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792872	0.91[ASN][1000 genomes]
rs3805647	0.95[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs4145849	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs4835948	0.80[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs4836373	0.85[CEU][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.86[MKK][hapmap];0.80[TSI][hapmap]
rs4836376	0.86[MEX][hapmap]
rs6595828	0.89[JPT][hapmap]
rs6595832	0.82[MEX][hapmap]
rs6859216	0.89[JPT][hapmap]
rs6892983	0.89[JPT][hapmap]
rs764368	0.89[JPT][hapmap]
rs7719223	0.89[JPT][hapmap]
rs7721622	0.83[JPT][hapmap]
rs7726680	0.89[JPT][hapmap]
rs7734008	0.89[JPT][hapmap]
rs813308	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

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
rs331087	FBN2	cis	multi-tissue	Pritchard

Chromatin state (count:31 , 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	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:127743000-127760400	Weak transcription	A549	lung
6	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
9	chr5:127745400-127756600	Weak transcription	Fetal Kidney	kidney
10	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:127747400-127756600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:127747400-127758600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:127747400-127759200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:127747400-127759200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:127747400-127772400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:127747600-127756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
18	chr5:127748800-127772400	Weak transcription	NH-A	brain
19	chr5:127749800-127763400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:127749800-127772400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:127750600-127756600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:127750600-127757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:127750600-127757600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:127750600-127760600	Weak transcription	Fetal Heart	heart
25	chr5:127751000-127757800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:127751200-127772400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:127752200-127764000	Weak transcription	Fetal Stomach	stomach
28	chr5:127754400-127762000	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:127754400-127772200	Weak transcription	NHEK	skin
30	chr5:127754800-127760800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:127755000-127756600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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