Variant report

Variant	rs7547655
Chromosome Location	chr1:215265676-215265677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10127521	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10127656	0.95[CEU][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs10746454	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10746455	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779639	0.80[CHB][hapmap]
rs10779640	0.95[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs10779642	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10779643	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10779645	0.83[CHB][hapmap]
rs10779646	0.86[CHB][hapmap]
rs10779649	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10779650	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs10779651	0.82[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.87[YRI][hapmap]
rs10864150	0.95[CEU][hapmap];0.80[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10864152	0.90[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10864154	0.95[AMR][1000 genomes]
rs11120495	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11120497	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11120499	0.80[CHD][hapmap]
rs11120500	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112101	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes]
rs12031308	0.84[CHB][hapmap]
rs12039875	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12120091	0.90[CEU][hapmap];0.80[AMR][1000 genomes]
rs12135076	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12141874	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12410041	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12411068	0.81[CHB][hapmap]
rs12567520	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap]
rs12742137	1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs1361340	0.84[CEU][hapmap];0.82[GIH][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1416647	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes]
rs1556906	0.83[YRI][hapmap]
rs1578137	0.89[AMR][1000 genomes]
rs2363552	0.81[YRI][hapmap]
rs2363554	0.94[CHB][hapmap]
rs2363556	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2363557	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2363558	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2363559	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2363560	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2363566	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2363567	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2885812	0.82[CHB][hapmap]
rs2885813	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2885815	0.95[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes]
rs3931585	0.81[AMR][1000 genomes]
rs4262516	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4269745	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4271184	0.80[CHB][hapmap];0.85[CHD][hapmap]
rs4300189	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4303048	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4375232	0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4411107	0.80[CHD][hapmap]
rs4497183	0.80[CHD][hapmap]
rs4509553	0.90[CEU][hapmap];0.85[AMR][1000 genomes]
rs4531266	0.94[CEU][hapmap];0.83[CHB][hapmap];0.95[YRI][hapmap];0.96[AMR][1000 genomes]
rs4548407	0.86[AMR][1000 genomes]
rs4556330	0.80[CHB][hapmap]
rs4571941	0.96[AMR][1000 genomes]
rs4607848	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4634877	0.90[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4655277	0.82[CEU][hapmap];0.86[CHB][hapmap];0.87[YRI][hapmap]
rs4655278	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4655392	0.80[CHB][hapmap]
rs4655393	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs4655394	0.86[CHB][hapmap];0.80[CHD][hapmap]
rs4655395	0.95[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61818297	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61818299	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61818320	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61818328	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6657313	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[YRI][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6662353	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6673739	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs6675926	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6678758	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6684084	0.82[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.87[YRI][hapmap]
rs6688713	0.91[ASW][hapmap];0.95[CEU][hapmap];0.80[CHB][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6695967	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6696333	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6699161	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs72735337	0.99[ASN][1000 genomes]
rs7410928	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7513709	0.95[CEU][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs7516689	1.00[ASW][hapmap];0.95[CEU][hapmap];0.80[CHB][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7535436	0.81[YRI][hapmap]
rs7540029	0.88[AMR][1000 genomes]
rs7541543	0.95[CEU][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs7547572	0.86[CHB][hapmap]
rs7551415	0.88[AMR][1000 genomes]
rs7551562	0.81[YRI][hapmap]
rs7555013	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7555727	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9793382	0.81[AMR][1000 genomes]
rs9793690	0.88[AMR][1000 genomes]

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	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7547655	SYT14	cis	parietal	SCAN
rs7547655	FDX1	trans	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215258200-215277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:215258400-215267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:215258400-215277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:215261600-215266000	Weak transcription	NHLF	lung
5	chr1:215261600-215266600	Strong transcription	Osteobl	bone
6	chr1:215262000-215266000	Strong transcription	NHDF-Ad	bronchial
7	chr1:215262000-215267800	Weak transcription	Fetal Brain Male	brain
8	chr1:215264800-215266200	Strong transcription	Fetal Brain Female	brain
9	chr1:215265000-215268600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:215265400-215265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:215265400-215280800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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