Variant report

Variant	rs17676260
Chromosome Location	chr5:127592925-127592926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127590444..127593312-chr5:127595170..127597999,2	K562	blood:
2	chr5:127592052..127594063-chr5:127598247..127600436,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10057855	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs10070365	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10070942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077809	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1478448	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17608692	1.00[AFR][1000 genomes]
rs17676236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17839651	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862294	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862295	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3909897	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs60245354	0.86[EUR][1000 genomes]
rs60594762	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595812	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6595814	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6863338	0.95[ASN][1000 genomes]
rs6872315	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6872517	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6876760	0.80[EUR][1000 genomes]
rs6891025	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6891306	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6891472	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6891479	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6891484	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6891984	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6893195	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73784555	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7707861	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs989548	1.00[ASW][hapmap]

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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17676260	FBN2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127588400-127593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:127588400-127595200	Weak transcription	Left Ventricle	heart
3	chr5:127588600-127593400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:127588600-127594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:127588800-127613400	Weak transcription	Ovary	ovary
6	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
7	chr5:127589200-127594000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:127589200-127595200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:127589200-127600000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:127589200-127612200	Weak transcription	Osteobl	bone
11	chr5:127589400-127593800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:127589800-127594200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:127590600-127594200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:127591000-127594200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:127591200-127594000	Weak transcription	Fetal Heart	heart
16	chr5:127591200-127600400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:127591200-127607400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:127591400-127594000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:127591400-127598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:127591800-127593400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:127591800-127593800	Weak transcription	HMEC	breast
22	chr5:127591800-127598400	Weak transcription	Right Ventricle	heart
23	chr5:127592200-127593800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:127592200-127594200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:127592200-127606600	Weak transcription	NH-A	brain
26	chr5:127592400-127593000	Enhancers	Fetal Stomach	stomach
27	chr5:127592400-127593200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:127592400-127593200	Enhancers	Fetal Lung	lung
29	chr5:127592400-127594000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:127592400-127594000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:127592400-127594000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:127592400-127594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:127592400-127596400	Weak transcription	NHEK	skin
34	chr5:127592400-127603800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:127592600-127594000	Weak transcription	Fetal Kidney	kidney
36	chr5:127592600-127594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:127592600-127597400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:127592600-127597400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:127592600-127598200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:127592600-127598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:127592600-127598800	Weak transcription	Fetal Brain Female	brain
42	chr5:127592600-127604600	Strong transcription	Placenta	Placenta
43	chr5:127592600-127614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:127592800-127597400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:127592800-127612200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:127592800-127624400	Weak transcription	A549	lung
47	chr5:127592800-127631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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