Variant report

Variant	rs433617
Chromosome Location	chr3:191191560-191191561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191142943..191145489-chr3:191191004..191192799,2	MCF-7	breast:
2	chr3:191187730..191193827-chr3:191193854..191197117,6	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1195742	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1398714	0.81[AFR][1000 genomes]
rs1398715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1656125	0.95[EUR][1000 genomes]
rs293823	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs293824	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs293825	0.85[ASW][hapmap]
rs293826	0.85[ASW][hapmap]
rs293827	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs293828	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs293831	0.86[ASW][hapmap];0.94[YRI][hapmap]
rs366765	0.97[ASN][1000 genomes]
rs380948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383815	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs388737	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs391382	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs393745	0.81[AFR][1000 genomes]
rs396381	0.81[AFR][1000 genomes]
rs398498	0.81[AFR][1000 genomes]
rs409461	0.81[AFR][1000 genomes]
rs410829	0.83[AFR][1000 genomes]
rs411571	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs412525	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422820	0.81[AFR][1000 genomes]
rs422889	1.00[ASW][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs425783	0.81[AFR][1000 genomes]
rs430388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430975	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs431446	0.83[AFR][1000 genomes]
rs431601	0.81[AFR][1000 genomes]
rs438356	0.81[AFR][1000 genomes]
rs441207	0.81[AFR][1000 genomes]
rs445237	0.81[AFR][1000 genomes]
rs446434	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447463	0.81[AFR][1000 genomes]
rs475354	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs501704	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs534424	0.81[AFR][1000 genomes]
rs542562	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544881	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs545100	0.81[AFR][1000 genomes]
rs549832	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs550120	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550947	0.97[ASN][1000 genomes]
rs566578	0.81[AFR][1000 genomes]
rs572324	0.81[AFR][1000 genomes]
rs574421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781914	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv878108	chr3:191175215-191223664	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv878109	chr3:191178925-191227296	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1009878	chr3:191188488-191226583	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv525219	chr3:191189132-191223664	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs433617	SOCS1	trans	lymphoblastoid	seeQTL
rs433617	GALNT14	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191188800-191193400	Weak transcription	Fetal Lung	lung
2	chr3:191191200-191192000	Enhancers	Hela-S3	cervix
3	chr3:191191400-191191600	Flanking Active TSS	K562	blood

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