Variant report

Variant	rs7356632
Chromosome Location	chr5:127782033-127782034
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10040416	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041869	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044959	0.83[ASN][1000 genomes]
rs10046007	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055617	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10057231	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057405	1.00[ASN][1000 genomes]
rs10057855	1.00[ASN][1000 genomes]
rs10059301	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059368	1.00[AFR][1000 genomes]
rs10062686	1.00[ASN][1000 genomes]
rs10063393	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063914	1.00[AFR][1000 genomes]
rs10067405	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070076	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071920	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074194	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074198	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076728	1.00[ASN][1000 genomes]
rs10477683	1.00[ASN][1000 genomes]
rs10477684	0.89[EUR][1000 genomes]
rs10478811	1.00[ASN][1000 genomes]
rs10519994	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950890	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951790	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951921	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952130	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955447	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13355538	1.00[AFR][1000 genomes]
rs13360784	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396477	1.00[ASN][1000 genomes]
rs1561006	1.00[ASN][1000 genomes]
rs17164115	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608692	1.00[ASN][1000 genomes]
rs17615636	1.00[AFR][1000 genomes]
rs17676426	0.83[ASN][1000 genomes]
rs1848501	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858080	0.92[EUR][1000 genomes]
rs1978439	1.00[ASN][1000 genomes]
rs2063248	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617614	1.00[AFR][1000 genomes]
rs28579194	1.00[ASN][1000 genomes]
rs28800517	1.00[ASN][1000 genomes]
rs3792871	1.00[ASN][1000 genomes]
rs3792873	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816905	1.00[ASN][1000 genomes]
rs3909897	1.00[ASN][1000 genomes]
rs4492151	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733883	1.00[ASN][1000 genomes]
rs56228613	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59535791	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820839	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867183	1.00[ASN][1000 genomes]
rs6873360	0.92[EUR][1000 genomes]
rs6881856	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6883276	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700287	0.83[ASN][1000 genomes]
rs7719113	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731176	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327476	1.00[ASN][1000 genomes]
rs989548	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989549	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7356632	FBN2	cis	Artery Tibial	GTEx
rs7356632	FBN2	cis	Whole Blood	GTEx
rs7356632	FBN2	cis	Nerve Tibial	GTEx
rs7356632	FBN2	cis	Artery Aorta	GTEx
rs7356632	FBN2	cis	lung	GTEx
rs7356632	FBN2	cis	Thyroid	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
2	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
3	chr5:127760600-127783200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:127760600-127791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:127772800-127787200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:127773000-127783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:127773000-127783800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:127773000-127785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:127773000-127788600	Weak transcription	Fetal Heart	heart
12	chr5:127773000-127809400	Weak transcription	HMEC	breast
13	chr5:127773200-127783600	Weak transcription	NH-A	brain
14	chr5:127773200-127785600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:127773400-127830000	Weak transcription	NHEK	skin
16	chr5:127776000-127785600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:127776200-127783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:127777200-127793000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:127777400-127789000	Weak transcription	Fetal Stomach	stomach
20	chr5:127778200-127783000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:127778800-127782400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:127779400-127807400	Weak transcription	Fetal Kidney	kidney
23	chr5:127780200-127782800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr5:127780400-127787600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:127780400-127806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:127780800-127805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:127781800-127782400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:127781800-127784000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr5:127782000-127782200	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:127782000-127783000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:127782000-127784000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr5:127782000-127784200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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