Variant report

Variant	rs7767007
Chromosome Location	chr6:133861522-133861523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:133861468-133861918	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr6:133861481-133861896	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000272428	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11964505	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11964979	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11968532	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11969376	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11969485	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11969724	0.89[CHB][hapmap]
rs11970169	0.94[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12110683	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17053540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17053541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17053542	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17641157	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs17643040	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs3777867	1.00[CHB][hapmap]
rs3777876	1.00[CHB][hapmap]
rs3777881	0.90[CHB][hapmap]
rs3777886	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3777887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3822937	0.89[CEU][hapmap]
rs3822938	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4053065	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41286206	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41286212	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55865377	0.99[EUR][1000 genomes]
rs55903152	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59080198	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60337650	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60797218	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67351386	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67720873	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6911415	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6911552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6912858	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6921393	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6929938	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6934616	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73003668	0.90[EUR][1000 genomes]
rs7453259	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7743115	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7749529	0.94[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7771096	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7771144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886681	chr6:133833284-133869617	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7767007	RP1-283K11.3	cis	lung	GTEx
rs7767007	SAMD3	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133823200-133869600	Weak transcription	Psoas Muscle	Psoas
2	chr6:133824400-133861600	Weak transcription	Ovary	ovary
3	chr6:133826600-133862400	Weak transcription	Fetal Lung	lung
4	chr6:133837400-133863600	Weak transcription	A549	lung
5	chr6:133854800-133866200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:133855000-133862800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:133855000-133863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:133860400-133862400	Enhancers	HSMMtube	muscle
9	chr6:133860800-133861600	Enhancers	HSMM	muscle
10	chr6:133861200-133862600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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