Variant report

Variant	rs10041869
Chromosome Location	chr5:127739700-127739701
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
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]
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]
rs10063393	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]
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];0.88[YRI][hapmap];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	0.91[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];0.96[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];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:1 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10041869	FBN2	cis	Artery Aorta	GTEx
rs10041869	FBN2	cis	multi-tissue	Pritchard
rs10041869	FBN2	cis	Artery Tibial	GTEx
rs10041869	FBN2	cis	lung	GTEx
rs10041869	FBN2	cis	Whole Blood	GTEx
rs10041869	FBN2	cis	Nerve Tibial	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
3	chr5:127686000-127742000	Weak transcription	A549	lung
4	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:127714600-127743000	Weak transcription	HMEC	breast
6	chr5:127716600-127744800	Weak transcription	Fetal Kidney	kidney
7	chr5:127725400-127743000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:127725600-127743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:127725800-127743400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:127725800-127765600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:127726000-127745000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:127727800-127740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127728400-127741800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:127728400-127744200	Weak transcription	NH-A	brain
15	chr5:127729000-127742200	Weak transcription	Ovary	ovary
16	chr5:127729200-127740600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:127731400-127747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:127731800-127740000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:127731800-127740200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:127731800-127740600	Weak transcription	Fetal Stomach	stomach
21	chr5:127732200-127740000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:127732200-127740000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:127732200-127740000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:127733200-127744400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:127733800-127744200	Weak transcription	Right Ventricle	heart
26	chr5:127734400-127742600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:127734600-127740000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:127736400-127745000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:127737800-127739800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:127737800-127742200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:127738000-127739800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:127738600-127740800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:127738800-127739800	Enhancers	Brain Germinal Matrix	brain
34	chr5:127738800-127740600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:127739000-127740000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:127739200-127740000	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:127739200-127740200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:127739200-127742400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:127739200-127743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:127739200-127744800	Weak transcription	HUVEC	blood vessel
41	chr5:127739200-127789000	Weak transcription	Left Ventricle	heart
42	chr5:127739400-127740600	Strong transcription	Placenta	Placenta
43	chr5:127739400-127759800	Weak transcription	Fetal Lung	lung
44	chr5:127739600-127739800	Enhancers	Fetal Heart	heart
45	chr5:127739600-127740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:127739600-127740400	Weak transcription	NHEK	skin
47	chr5:127739600-127744200	Weak transcription	Fetal Brain Male	brain

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