Variant report

Variant	rs9847322
Chromosome Location	chr3:88245858-88245859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1006895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1051413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs1051436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1063597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1063603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12493327	1.00[CEU][hapmap]
rs12631689	0.89[AFR][1000 genomes]
rs13060704	0.89[AFR][1000 genomes]
rs13063511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13067183	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13076170	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs13098157	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap]
rs2049817	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap]
rs2116149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3732776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3890707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4337654	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4368523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4384978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4414876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4429658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4432672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4438681	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4485742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4507280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4518156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4596173	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4611846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4858931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4858937	0.89[AFR][1000 genomes]
rs4858938	0.81[EUR][1000 genomes]
rs4858981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4858983	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4858985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4858994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4858998	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs4858999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4859002	0.89[AFR][1000 genomes]
rs4859004	0.81[EUR][1000 genomes]
rs4859005	0.81[EUR][1000 genomes]
rs6419866	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6551271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6551272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6551275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6551277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs6551278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6551289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6551292	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6551293	0.81[EUR][1000 genomes]
rs6551294	0.81[EUR][1000 genomes]
rs6762453	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6771031	0.81[EUR][1000 genomes]
rs6777019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs6778708	0.81[EUR][1000 genomes]
rs6781333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6787824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6792208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6801046	0.81[EUR][1000 genomes]
rs6805957	0.81[EUR][1000 genomes]
rs71616896	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7427047	0.81[EUR][1000 genomes]
rs7427296	0.92[AFR][1000 genomes]
rs7427335	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7428357	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7429120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7431074	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7432509	0.81[EUR][1000 genomes]
rs7432838	1.00[CEU][hapmap]
rs7615585	0.88[AFR][1000 genomes]
rs7617691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7618472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7620130	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7620830	0.89[CEU][hapmap]
rs7643699	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7651999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7652528	0.87[AFR][1000 genomes]
rs7653652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs9310066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9310067	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9310072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9310074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9310077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs959049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs959050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9809661	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9813894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9814057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9831230	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9834501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9841834	0.81[EUR][1000 genomes]
rs9843550	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9845776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9847355	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9848258	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9849248	0.81[EUR][1000 genomes]
rs9849353	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9861443	0.81[CHB][hapmap]
rs9865335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9865578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9865703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9865710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9866843	0.81[EUR][1000 genomes]
rs9868310	0.90[AFR][1000 genomes]
rs9868977	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9876807	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9881255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9847322	CGGBP1	cis	uninvolved skin	skin_eQTL
rs9847322	C3orf38	Cis_1M	lymphoblastoid	RTeQTL
rs9847322	CGGBP1///LOC728397	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88240400-88246000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:88241600-88246000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:88241800-88246200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:88242000-88246000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:88242800-88246200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:88245000-88247600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:88245400-88246000	Enhancers	K562	blood
8	chr3:88245800-88246600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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