Variant report

Variant	rs3018060
Chromosome Location	chr4:107286147-107286148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11938792	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2691805	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2949626	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2949645	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2949646	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2949647	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3018059	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3018061	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018062	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3018063	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3018064	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3018065	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3109959	1.00[CEU][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs727618	0.88[CEU][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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1008963	chr4:107282656-107384924	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3018060	OSTC	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107270600-107286200	Weak transcription	HepG2	liver
2	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:107271200-107286400	Weak transcription	Fetal Intestine Large	intestine
4	chr4:107273000-107286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:107273000-107286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:107280400-107286400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:107280800-107286200	Weak transcription	NH-A	brain
8	chr4:107281000-107286200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:107283800-107286600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:107285200-107288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:107285400-107286600	Enhancers	NHDF-Ad	bronchial
12	chr4:107285400-107287800	Enhancers	NHLF	lung
13	chr4:107285400-107287800	Enhancers	Osteobl	bone
14	chr4:107285400-107288400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:107285400-107288400	Enhancers	HSMM	muscle
16	chr4:107285600-107287600	Enhancers	HSMMtube	muscle
17	chr4:107285600-107287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:107285800-107286600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:107285800-107286800	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:107285800-107287000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:107285800-107287000	Weak transcription	Psoas Muscle	Psoas
22	chr4:107285800-107288200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:107286000-107287000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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