Variant report

Variant	rs6807945
Chromosome Location	chr3:138052754-138052755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1002766	0.81[JPT][hapmap]
rs1092338	0.88[ASN][1000 genomes]
rs1199329	0.84[CHB][hapmap]
rs1199330	0.89[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs1199332	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs1199337	0.93[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1199338	0.93[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12695685	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs13083299	0.84[EUR][1000 genomes]
rs13096934	0.84[EUR][1000 genomes]
rs13324341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678440	0.89[ASN][1000 genomes]
rs1678443	0.86[CHB][hapmap]
rs1720819	0.89[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs1720828	0.89[CHB][hapmap];0.87[CHD][hapmap];0.86[LWK][hapmap]
rs185244	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2054468	0.93[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs2061936	0.85[JPT][hapmap]
rs2169973	0.81[JPT][hapmap]
rs2279241	0.83[EUR][1000 genomes]
rs2291127	0.83[EUR][1000 genomes]
rs2293251	0.93[CEU][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs2306374	0.93[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs2347252	0.93[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs253661	0.89[CHB][hapmap]
rs253663	0.89[CHB][hapmap]
rs253665	0.89[CHB][hapmap];0.87[CHD][hapmap];0.80[LWK][hapmap]
rs34905952	0.84[EUR][1000 genomes]
rs35219044	0.84[ASN][1000 genomes]
rs3732837	0.93[CEU][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs3773752	0.81[CHD][hapmap]
rs40593	0.84[CHD][hapmap]
rs4678260	0.84[CHD][hapmap]
rs4678407	0.84[ASN][1000 genomes]
rs4678408	0.81[JPT][hapmap]
rs4678409	0.93[CHD][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4678415	0.84[CHD][hapmap]
rs6439804	0.84[ASN][1000 genomes]
rs6439805	0.84[ASN][1000 genomes]
rs6439806	0.81[JPT][hapmap]
rs6782181	0.87[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6789235	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs6802211	0.81[JPT][hapmap]
rs730158	0.84[CHD][hapmap]
rs731632	0.84[CHD][hapmap]
rs751357	0.84[CHD][hapmap]
rs774009	0.89[CHB][hapmap]
rs9289559	0.84[CHD][hapmap]
rs9818870	0.93[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs9845672	0.93[CHD][hapmap];0.81[JPT][hapmap]
rs9846198	0.81[JPT][hapmap]
rs9848655	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs9851766	0.83[EUR][1000 genomes]
rs9864898	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs9872754	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1821595	chr3:138043128-138055402	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6807945	MRAS	cis	Artery Tibial	GTEx
rs6807945	TRIM42	cis	cerebellum	SCAN
rs6807945	RBP1	cis	parietal	SCAN
rs6807945	PRR23B	cis	cerebellum	SCAN
rs6807945	MRAS	cis	Artery Aorta	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138048600-138057800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:138049000-138053400	Weak transcription	Pancreas	Pancrea
3	chr3:138049000-138053600	Weak transcription	Ovary	ovary
4	chr3:138049000-138055000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:138049000-138056600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:138049200-138053600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:138049200-138054400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:138049200-138054400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:138049200-138054600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:138049200-138055000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:138049200-138055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:138049200-138055200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:138049200-138055400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:138050600-138056200	Weak transcription	HSMM	muscle
15	chr3:138051800-138054800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:138051800-138055400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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