Variant report

Variant	rs17677603
Chromosome Location	chr5:127857493-127857494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10035972	1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs10040225	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1004965	0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs10066170	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10068001	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10073062	0.94[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs10078570	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10463844	0.90[JPT][hapmap]
rs11241957	0.89[JPT][hapmap]
rs11241959	0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs13354986	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13361732	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1435514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1529866	0.96[ASN][1000 genomes]
rs1561007	0.96[ASN][1000 genomes]
rs17164089	0.96[ASN][1000 genomes]
rs17615552	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17677453	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1858079	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1897999	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043536	0.92[CEU][hapmap]
rs2263510	0.90[JPT][hapmap]
rs2409539	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs331067	0.90[YRI][hapmap]
rs331078	0.89[JPT][hapmap]
rs331083	0.89[JPT][hapmap]
rs331087	0.89[JPT][hapmap]
rs34171917	0.89[ASN][1000 genomes]
rs34790038	0.95[ASN][1000 genomes]
rs3805647	0.83[JPT][hapmap]
rs4100587	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4145849	0.90[JPT][hapmap]
rs4385259	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4835947	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835948	0.84[CEU][hapmap];0.89[JPT][hapmap]
rs4836373	0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs4836377	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4836378	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs62390666	0.95[ASN][1000 genomes]
rs62390667	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595827	0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs6595828	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6595829	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs6595833	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6595835	0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs6595838	0.93[ASN][1000 genomes]
rs6859216	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6860114	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6864831	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs6873438	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6882394	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs6892983	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898280	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6898449	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs764368	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713256	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs7719223	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7721622	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7725788	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7726680	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7726795	0.95[ASN][1000 genomes]
rs7734008	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs892863	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1019560	chr5:127814656-127873680	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv537895	chr5:127814656-127873680	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17677603	FBN2	cis	lung	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127826200-127859800	Weak transcription	NH-A	brain
2	chr5:127827200-127870400	Weak transcription	Fetal Kidney	kidney
3	chr5:127840200-127859600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:127840200-127870400	Weak transcription	Left Ventricle	heart
5	chr5:127840200-127872000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:127840400-127864200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:127840400-127867600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:127841000-127859600	Weak transcription	NHEK	skin
9	chr5:127841000-127870200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:127842600-127863600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:127843400-127857800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:127844200-127860000	Weak transcription	Fetal Lung	lung
13	chr5:127845600-127867800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:127845600-127870400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:127846000-127867800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:127847400-127862200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:127847400-127869000	Weak transcription	NHDF-Ad	bronchial
18	chr5:127852400-127860000	Weak transcription	A549	lung
19	chr5:127852800-127867800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:127853200-127861000	Strong transcription	Placenta	Placenta
21	chr5:127853200-127872400	Weak transcription	Osteobl	bone
22	chr5:127853400-127864800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:127853400-127867600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:127853600-127858200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:127853600-127867800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:127853800-127859800	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:127853800-127862800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:127854000-127857800	Weak transcription	HMEC	breast
29	chr5:127854000-127872000	Weak transcription	Ovary	ovary
30	chr5:127854600-127858200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:127854600-127860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:127854800-127857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:127854800-127858600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:127854800-127859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:127855000-127862000	Weak transcription	HUVEC	blood vessel
36	chr5:127855000-127863600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:127855000-127867600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:127855000-127871200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:127855400-127867800	Weak transcription	Fetal Stomach	stomach
40	chr5:127856000-127862400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:127856200-127859400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr5:127856400-127859600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:127856600-127859400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:127856600-127860000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:127856600-127860000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:127857000-127858000	Enhancers	Fetal Heart	heart
47	chr5:127857000-127859800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:127857200-127857800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr5:127857400-127858400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:127857400-127859000	Enhancers	Primary hematopoietic stem cells	blood

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