Variant report

Variant	rs10063393
Chromosome Location	chr5:127745955-127745956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10040416	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041869	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044959	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10046007	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10057231	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057405	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10057855	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10059301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062686	1.00[ASN][1000 genomes]
rs10067405	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071920	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074194	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074198	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076728	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10477683	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10477684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10478811	1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10519994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950890	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952130	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360784	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561006	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17164083	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs17164115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608692	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17676426	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1848501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1978439	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2063248	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579194	1.00[ASN][1000 genomes]
rs28800517	1.00[ASN][1000 genomes]
rs374748	1.00[JPT][hapmap]
rs3792871	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3792873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816905	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3909897	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4492151	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733883	1.00[ASN][1000 genomes]
rs56228613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59535791	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820839	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867183	1.00[ASN][1000 genomes]
rs6873360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881856	1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6883276	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893195	1.00[JPT][hapmap]
rs7356632	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700287	0.83[ASN][1000 genomes]
rs7719113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731176	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327476	1.00[ASN][1000 genomes]
rs968008	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs989548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10063393	FBN2	cis	multi-tissue	Pritchard
rs10063393	FBN2	cis	Whole Blood	GTEx
rs10063393	FBN2	cis	lung	GTEx
rs10063393	FBN2	cis	Nerve Tibial	GTEx
rs10063393	FBN2	cis	Artery Aorta	GTEx
rs10063393	FBN2	cis	Artery Tibial	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
5	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
6	chr5:127740800-127759600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:127742600-127746000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:127743000-127749200	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:127743000-127760400	Weak transcription	A549	lung
11	chr5:127743200-127746800	Weak transcription	Fetal Stomach	stomach
12	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:127743800-127746000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:127744200-127746000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:127744200-127746000	Enhancers	NH-A	brain
16	chr5:127744200-127746400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:127744400-127746000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:127744400-127746000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:127744400-127746800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:127744400-127746800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:127744400-127746800	Enhancers	Fetal Heart	heart
22	chr5:127744400-127746800	Weak transcription	Placenta	Placenta
23	chr5:127744400-127747200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:127744600-127746200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:127744600-127746600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr5:127744600-127746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:127744600-127747000	Enhancers	NHEK	skin
29	chr5:127744800-127746000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:127744800-127746200	Enhancers	HUVEC	blood vessel
31	chr5:127745000-127746000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:127745000-127746000	Enhancers	Hela-S3	cervix
33	chr5:127745000-127746000	Enhancers	HMEC	breast
34	chr5:127745000-127746200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:127745200-127746400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
37	chr5:127745400-127756600	Weak transcription	Fetal Kidney	kidney
38	chr5:127745600-127746000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:127745600-127746200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:127745600-127746200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:127745600-127747400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:127745800-127746000	Enhancers	H9 Cell Line	embryonic stem cell

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