Variant report

Variant	rs1673073
Chromosome Location	chr5:76081745-76081746
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10067774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1030484	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12186639	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs13157422	0.89[EUR][1000 genomes]
rs13166450	0.82[EUR][1000 genomes]
rs13177258	0.91[EUR][1000 genomes]
rs13179405	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs153312	0.81[AMR][1000 genomes]
rs1963861	0.87[EUR][1000 genomes]
rs2434656	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs250754	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs250755	0.86[ASN][1000 genomes]
rs250756	0.90[ASN][1000 genomes]
rs250758	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs250760	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs250761	0.82[ASN][1000 genomes]
rs250763	0.94[ASN][1000 genomes]
rs250764	0.95[ASN][1000 genomes]
rs250765	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs253085	0.81[AMR][1000 genomes]
rs3925483	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55925929	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56238109	0.88[EUR][1000 genomes]
rs62365101	0.90[EUR][1000 genomes]
rs62365102	0.83[EUR][1000 genomes]
rs62365104	0.91[EUR][1000 genomes]
rs62365105	0.91[EUR][1000 genomes]
rs7712660	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1673073	F2R	cis	Muscle Skeletal	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76075600-76084200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:76076000-76083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:76076000-76084200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:76077200-76081800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:76077800-76085800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:76078200-76084200	Enhancers	HUVEC	blood vessel
7	chr5:76079000-76082800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:76079000-76083400	Weak transcription	Spleen	Spleen
9	chr5:76079000-76084200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr5:76079800-76083000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:76079800-76084000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:76080200-76084600	Enhancers	Fetal Intestine Large	intestine
13	chr5:76080400-76082800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:76080400-76086800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:76080600-76081800	Enhancers	HepG2	liver
16	chr5:76080600-76082000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:76080600-76082200	Enhancers	Fetal Intestine Small	intestine
18	chr5:76080600-76082800	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:76080600-76083000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:76080600-76086800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:76080800-76085800	Weak transcription	Small Intestine	intestine
22	chr5:76080800-76086600	Weak transcription	Colonic Mucosa	Colon
23	chr5:76081000-76082200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr5:76081000-76082200	Enhancers	NH-A	brain
25	chr5:76081000-76082400	Enhancers	Hela-S3	cervix
26	chr5:76081200-76081800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:76081200-76081800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:76081200-76081800	Enhancers	NHEK	skin
29	chr5:76081400-76081800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:76081400-76081800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:76081400-76081800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:76081400-76081800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:76081400-76081800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:76081400-76081800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:76081400-76081800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:76081400-76081800	Flanking Active TSS	A549	lung
37	chr5:76081400-76081800	Enhancers	HSMM	muscle
38	chr5:76081400-76081800	Enhancers	HSMMtube	muscle
39	chr5:76081400-76081800	Enhancers	NHDF-Ad	bronchial
40	chr5:76081400-76081800	Enhancers	NHLF	lung
41	chr5:76081400-76081800	Enhancers	Osteobl	bone
42	chr5:76081400-76082000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:76081400-76082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:76081600-76081800	Enhancers	HMEC	breast
45	chr5:76081600-76082000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:76081600-76082800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:76081600-76083000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:76081600-76088800	Enhancers	Stomach Mucosa	stomach

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