Variant report

Variant	rs17608692
Chromosome Location	chr5:127682131-127682132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10038028	0.83[AMR][1000 genomes]
rs10040416	1.00[ASN][1000 genomes]
rs10041869	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10044959	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10046007	1.00[ASN][1000 genomes]
rs10055617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10057231	1.00[ASN][1000 genomes]
rs10057405	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059301	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10062686	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063393	1.00[CHB][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]
rs10070942	1.00[AFR][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];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077809	1.00[AFR][1000 genomes]
rs10477683	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10477684	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478806	1.00[AFR][1000 genomes]
rs10478811	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519994	1.00[CHB][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]
rs12189448	1.00[CHB][hapmap]
rs13360784	1.00[ASN][1000 genomes]
rs1396477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17164115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17676236	1.00[AFR][1000 genomes]
rs17676260	1.00[AFR][1000 genomes]
rs17676426	0.82[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];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063248	1.00[ASN][1000 genomes]
rs28579194	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28800517	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374748	1.00[JPT][hapmap]
rs3792871	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3816905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3909897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4492151	1.00[ASN][1000 genomes]
rs55733883	0.92[EUR][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	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];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[JPT][hapmap];1.00[ASN][1000 genomes]
rs6893195	0.81[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
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	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs989549	1.00[CHB][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17608692	FBN2	cis	Whole Blood	GTEx
rs17608692	FBN2	cis	lung	GTEx
rs17608692	FBN2	cis	Artery Tibial	GTEx
rs17608692	FBN2	cis	Nerve Tibial	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127660600-127683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
8	chr5:127661200-127683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:127661200-127693000	Weak transcription	NHLF	lung
10	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
11	chr5:127661800-127683600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
13	chr5:127673200-127683800	Strong transcription	Fetal Stomach	stomach
14	chr5:127673800-127706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:127674800-127684600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
17	chr5:127676600-127686800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:127676800-127683800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:127677600-127694800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:127677800-127711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:127678200-127686200	Weak transcription	NH-A	brain
22	chr5:127678600-127701000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr5:127679200-127684600	Weak transcription	A549	lung
24	chr5:127679200-127704200	Weak transcription	Fetal Intestine Large	intestine
25	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
26	chr5:127679800-127704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:127680000-127683400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:127680800-127683400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:127681000-127682800	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:127681200-127682200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr5:127681200-127682600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:127681200-127682800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:127681200-127685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:127681200-127689800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:127681400-127682400	Weak transcription	Left Ventricle	heart
36	chr5:127681400-127682600	Weak transcription	Psoas Muscle	Psoas
37	chr5:127681400-127684600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:127681400-127684600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:127681400-127684600	Weak transcription	HMEC	breast
40	chr5:127681400-127684600	Weak transcription	NHEK	skin
41	chr5:127681400-127684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:127681400-127685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:127681400-127685600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:127681400-127694200	Weak transcription	Fetal Lung	lung
45	chr5:127681400-127704400	Weak transcription	Ovary	ovary
46	chr5:127681400-127706600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr5:127681600-127682400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:127681600-127684400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:127681600-127684600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:127681600-127684600	Weak transcription	Muscle Satellite Cultured Cells	--

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