Variant report

Variant	rs6748000
Chromosome Location	chr2:39157330-39157331
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	chr2:38977749..38979717-chr2:39155350..39158126,2	K562	blood:
2	chr2:38975490..38978022-chr2:39156663..39158422,2	K562	blood:

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1376461	1.00[JPT][hapmap]
rs17023214	1.00[JPT][hapmap]
rs1901290	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2373466	0.85[AMR][1000 genomes]
rs2373472	0.85[AMR][1000 genomes]
rs3099947	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3099953	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3099997	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3112138	1.00[JPT][hapmap]
rs3112155	0.92[AMR][1000 genomes]
rs3112158	1.00[JPT][hapmap];0.85[AMR][1000 genomes]
rs3112160	1.00[JPT][hapmap]
rs3112164	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3112174	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3112176	0.84[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3112177	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3213986	1.00[EUR][1000 genomes]
rs56322480	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57884089	0.92[ASN][1000 genomes]
rs58412684	1.00[ASN][1000 genomes]
rs58645810	1.00[ASN][1000 genomes]
rs59788371	1.00[ASN][1000 genomes]
rs60406386	1.00[ASN][1000 genomes]
rs61393528	1.00[ASN][1000 genomes]
rs6544182	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6712917	1.00[JPT][hapmap]
rs6722176	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6722478	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72911297	1.00[EUR][1000 genomes]
rs72911298	1.00[EUR][1000 genomes]
rs72911299	1.00[EUR][1000 genomes]
rs72913129	1.00[EUR][1000 genomes]
rs72916821	0.81[AFR][1000 genomes]
rs7368897	1.00[JPT][hapmap]
rs73930373	1.00[ASN][1000 genomes]
rs73930374	1.00[ASN][1000 genomes]
rs73930378	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7571935	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7605183	1.00[ASN][1000 genomes]
rs921433	1.00[JPT][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6748000	SOS1	cis	multi-tissue	Pritchard

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39143800-39164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:39145800-39172800	Weak transcription	Lung	lung
4	chr2:39147000-39166600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:39149000-39164800	Weak transcription	Ovary	ovary
6	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
8	chr2:39155800-39174800	Weak transcription	Fetal Lung	lung
9	chr2:39156800-39172800	Weak transcription	Adipose Nuclei	Adipose

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