Variant report

Variant	rs2063248
Chromosome Location	chr5:127750402-127750403
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10040416	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10041869	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044959	0.83[ASN][1000 genomes]
rs10046007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10055617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10057231	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057405	1.00[ASN][1000 genomes]
rs10057855	1.00[ASN][1000 genomes]
rs10059301	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10062686	1.00[ASN][1000 genomes]
rs10063393	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067405	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070076	0.93[AFR][1000 genomes];0.93[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	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074198	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076728	1.00[ASN][1000 genomes]
rs10477683	1.00[ASN][1000 genomes]
rs10477684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10478811	1.00[ASN][1000 genomes]
rs10519994	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950890	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951921	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955447	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13360784	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396477	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561006	1.00[ASN][1000 genomes]
rs17164115	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17608692	1.00[ASN][1000 genomes]
rs17676426	0.83[ASN][1000 genomes]
rs1848501	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858080	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1978439	1.00[ASN][1000 genomes]
rs28579194	1.00[ASN][1000 genomes]
rs28800517	1.00[ASN][1000 genomes]
rs3792871	1.00[ASN][1000 genomes]
rs3792873	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816905	1.00[ASN][1000 genomes]
rs3909897	1.00[ASN][1000 genomes]
rs4492151	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55733883	1.00[ASN][1000 genomes]
rs56228613	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59535791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59820839	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867183	1.00[ASN][1000 genomes]
rs6873360	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6881856	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6883276	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356632	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700287	0.83[ASN][1000 genomes]
rs7719113	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731176	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327476	1.00[ASN][1000 genomes]
rs989548	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989549	0.91[AFR][1000 genomes];1.00[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2063248	FBN2	cis	Artery Aorta	GTEx
rs2063248	FBN2	cis	Whole Blood	GTEx
rs2063248	FBN2	cis	lung	GTEx
rs2063248	FBN2	cis	Artery Tibial	GTEx
rs2063248	FBN2	cis	Nerve Tibial	GTEx

Chromatin state (count:30 , 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	chr5:127741000-127751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:127743000-127760400	Weak transcription	A549	lung
7	chr5:127743400-127771800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:127744400-127762200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:127745200-127773800	Weak transcription	Right Ventricle	heart
10	chr5:127745400-127756600	Weak transcription	Fetal Kidney	kidney
11	chr5:127746000-127754600	Weak transcription	Hela-S3	cervix
12	chr5:127746000-127777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:127747400-127751600	Weak transcription	Fetal Stomach	stomach
14	chr5:127747400-127756600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr5:127747400-127758600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:127747400-127759200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:127747400-127759200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:127747400-127772400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:127747600-127756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:127747600-127784400	Weak transcription	Placenta	Placenta
21	chr5:127748800-127772400	Weak transcription	NH-A	brain
22	chr5:127749600-127750600	ZNF genes & repeats	NHEK	skin
23	chr5:127749800-127750600	Strong transcription	Fetal Heart	heart
24	chr5:127749800-127751000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr5:127749800-127755000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:127749800-127763400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:127749800-127772400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:127750000-127750600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:127750200-127750600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:127750200-127751200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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