Variant report

Variant	rs7124238
Chromosome Location	chr11:9641847-9641848
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10770043	0.83[JPT][hapmap]
rs10770047	0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840269	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10840270	0.83[JPT][hapmap]
rs10840271	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840274	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12273601	1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12420438	0.84[JPT][hapmap]
rs2060477	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289074	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs57701122	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7105378	0.85[EUR][1000 genomes]
rs7109545	0.95[ASN][1000 genomes]
rs7109585	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118466	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118581	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715333	0.81[EUR][1000 genomes]

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	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7124238	SWAP70	cis	multi-tissue	Pritchard
rs7124238	SWAP70	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9635400-9646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:9636400-9647400	Weak transcription	Right Atrium	heart
3	chr11:9636600-9642200	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:9637000-9646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:9637200-9644600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9638000-9642200	Enhancers	Primary B cells from cord blood	blood
7	chr11:9638200-9642400	Enhancers	Placenta	Placenta
8	chr11:9638200-9646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:9638600-9646600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:9639800-9648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:9640000-9642000	Enhancers	GM12878-XiMat	blood
12	chr11:9640000-9646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:9641600-9647800	Weak transcription	HSMMtube	muscle
14	chr11:9641800-9645600	Weak transcription	Spleen	Spleen
15	chr11:9641800-9645800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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