Variant report

Variant	rs1561006
Chromosome Location	chr5:127712056-127712057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10040416	1.00[ASN][1000 genomes]
rs10041869	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10044959	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10046007	1.00[ASN][1000 genomes]
rs10055617	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10057231	1.00[ASN][1000 genomes]
rs10057405	0.90[CEU][hapmap];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[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062686	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063393	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10067405	1.00[ASN][1000 genomes]
rs10070076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10071920	1.00[ASN][1000 genomes]
rs10074194	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10074198	1.00[ASN][1000 genomes]
rs10076728	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10477683	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10477684	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478811	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10519994	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11950890	1.00[ASN][1000 genomes]
rs11951790	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11951921	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11952130	1.00[ASN][1000 genomes]
rs11955447	1.00[ASN][1000 genomes]
rs13360784	1.00[ASN][1000 genomes]
rs1396477	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17164083	0.83[GIH][hapmap]
rs17164115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17608692	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17676426	0.90[CEU][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1848501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1858080	1.00[CHB][hapmap]
rs1978439	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2063248	1.00[ASN][1000 genomes]
rs28579194	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28800517	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374748	1.00[JPT][hapmap]
rs3792871	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3816905	0.86[CEU][hapmap];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[ASN][1000 genomes]
rs55733883	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56228613	1.00[ASN][1000 genomes]
rs59535791	1.00[ASN][1000 genomes]
rs59820839	1.00[ASN][1000 genomes]
rs6867183	1.00[ASN][1000 genomes]
rs6873360	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6881856	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6883276	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6893195	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs7356632	1.00[ASN][1000 genomes]
rs7700287	0.83[ASN][1000 genomes]
rs7719113	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7731176	1.00[ASN][1000 genomes]
rs9327476	1.00[ASN][1000 genomes]
rs968008	0.83[GIH][hapmap]
rs989548	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs989549	1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	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
rs1561006	FBN2	cis	Whole Blood	GTEx
rs1561006	FBN2	cis	Nerve Tibial	GTEx
rs1561006	FBN2	cis	Thyroid	GTEx
rs1561006	FBN2	cis	multi-tissue	Pritchard
rs1561006	FBN2	cis	lung	GTEx
rs1561006	FBN2	cis	Artery Aorta	GTEx

Chromatin state (count:46 , 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	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
4	chr5:127681600-127714400	Weak transcription	HUVEC	blood vessel
5	chr5:127685400-127725000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127685800-127712400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:127686000-127742000	Weak transcription	A549	lung
9	chr5:127690200-127724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:127693400-127714600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:127695200-127737800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:127695800-127714000	Weak transcription	Fetal Kidney	kidney
13	chr5:127696000-127716000	Strong transcription	Placenta	Placenta
14	chr5:127696400-127715000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:127696800-127738200	Weak transcription	Fetal Lung	lung
16	chr5:127697000-127712200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:127700600-127719600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr5:127701800-127716000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:127702600-127714400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:127703800-127712800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:127704800-127741800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:127705000-127712200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:127705000-127715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:127705000-127715400	Weak transcription	Fetal Stomach	stomach
25	chr5:127705000-127724800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:127705000-127730200	Weak transcription	Fetal Intestine Large	intestine
27	chr5:127705200-127713800	Weak transcription	NH-A	brain
28	chr5:127705200-127718000	Weak transcription	Ovary	ovary
29	chr5:127705200-127724800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:127705600-127722000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:127705800-127713600	Weak transcription	NHEK	skin
32	chr5:127705800-127731200	Weak transcription	Left Ventricle	heart
33	chr5:127706400-127712400	Weak transcription	HMEC	breast
34	chr5:127707000-127713200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:127707200-127712400	Weak transcription	Fetal Heart	heart
36	chr5:127707600-127714200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:127708200-127713600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:127708400-127713600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:127709600-127712200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:127710200-127712200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:127710600-127712200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:127710600-127716000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:127710600-127724200	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:127711200-127713400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:127711200-127724800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:127711200-127724800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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