Variant report

Variant	rs1203739
Chromosome Location	chr7:40748650-40748651
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10250246	0.82[MEX][hapmap];0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs10486813	0.92[TSI][hapmap];0.80[EUR][1000 genomes]
rs10951638	0.82[EUR][1000 genomes]
rs1203727	0.81[EUR][1000 genomes]
rs1203728	0.81[EUR][1000 genomes]
rs1203731	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1203733	0.84[TSI][hapmap]
rs1203734	0.84[TSI][hapmap]
rs13235741	0.82[EUR][1000 genomes]
rs17171763	0.81[EUR][1000 genomes]
rs17171764	0.80[EUR][1000 genomes]
rs6462987	0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs6957725	0.96[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6965055	0.89[TSI][hapmap]
rs6978898	0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs7808606	0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1203739	STEAP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40740600-40750600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:40741200-40749000	Weak transcription	Aorta	Aorta
3	chr7:40746000-40749400	Enhancers	HMEC	breast
4	chr7:40746000-40749600	Enhancers	NHEK	skin
5	chr7:40747800-40749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:40748000-40749200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:40748000-40749200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:40748000-40751200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:40748200-40749000	Enhancers	Hela-S3	cervix
10	chr7:40748400-40748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:40748400-40749200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:40748400-40749200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:40748400-40749200	Enhancers	Osteobl	bone
14	chr7:40748400-40749400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:40748600-40749000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:40748600-40749400	Enhancers	NHDF-Ad	bronchial

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

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