Variant report

Variant	rs928016
Chromosome Location	chr1:179517366-179517367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1060775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10753193	1.00[JPT][hapmap]
rs10798682	1.00[JPT][hapmap]
rs10798689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10913776	0.85[GIH][hapmap];1.00[JPT][hapmap]
rs10913804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10913807	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs12119649	1.00[CEU][hapmap]
rs12122753	1.00[JPT][hapmap]
rs12125146	0.82[CEU][hapmap]
rs12131398	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12131400	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12134954	1.00[CEU][hapmap]
rs12136100	1.00[JPT][hapmap]
rs1328596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1410590	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1831180	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap]
rs1928004	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs2026014	1.00[JPT][hapmap]
rs4255343	1.00[JPT][hapmap]
rs4360482	0.87[ASW][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs4606280	0.84[GIH][hapmap];1.00[JPT][hapmap]
rs4625242	1.00[JPT][hapmap]
rs4652404	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4652417	1.00[CHD][hapmap]
rs6425558	0.80[GIH][hapmap]
rs6425575	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659294	0.87[ASW][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs6662859	0.87[ASW][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs6683623	0.80[GIH][hapmap]
rs6696896	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs6697280	1.00[JPT][hapmap]
rs6697373	1.00[JPT][hapmap]
rs6698201	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs749960	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7512551	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap]
rs7514278	0.85[GIH][hapmap];1.00[JPT][hapmap]
rs7517766	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs7518557	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7522064	1.00[JPT][hapmap]
rs7542099	1.00[JPT][hapmap]
rs963062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964982	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.83[TSI][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	nsv522746	chr1:179501365-179518459	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv523253	chr1:179516072-179518459	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs928016	SAMSN1	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179510600-179520600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:179514000-179518200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:179515400-179517800	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:179515600-179521800	Enhancers	Placenta	Placenta
5	chr1:179516000-179517800	Weak transcription	Pancreas	Pancrea
6	chr1:179516800-179519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:179516800-179520200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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