Variant report

Variant	rs57655172
Chromosome Location	chr7:40750919-40750920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10250246	0.87[ASN][1000 genomes]
rs10486813	0.87[ASN][1000 genomes]
rs10951638	0.90[ASN][1000 genomes]
rs1146040	0.88[ASN][1000 genomes]
rs1203725	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203726	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203727	0.88[ASN][1000 genomes]
rs1203728	0.89[ASN][1000 genomes]
rs1203730	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1203733	0.88[ASN][1000 genomes]
rs1203734	0.88[ASN][1000 genomes]
rs13235741	0.89[ASN][1000 genomes]
rs17171762	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17171763	0.87[ASN][1000 genomes]
rs17171764	0.87[ASN][1000 genomes]
rs1921750	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35428147	0.90[ASN][1000 genomes]
rs4050983	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62451217	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62451219	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6462987	0.87[ASN][1000 genomes]
rs6959899	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6965055	0.87[ASN][1000 genomes]
rs6978898	0.90[ASN][1000 genomes]
rs73310278	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73310281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808606	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40748000-40751200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:40749000-40754000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:40749200-40753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:40749200-40753800	Weak transcription	Osteobl	bone
5	chr7:40749200-40754200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:40749200-40754800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:40749400-40751000	Weak transcription	HMEC	breast
8	chr7:40749400-40751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:40749400-40753400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:40749400-40754000	Weak transcription	NHDF-Ad	bronchial
11	chr7:40749600-40751000	Weak transcription	NHEK	skin
12	chr7:40750600-40751200	Strong transcription	Aorta	Aorta
13	chr7:40750600-40751800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:40750800-40751000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:40750800-40752200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:40750800-40752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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