Variant report

Variant	rs12531154
Chromosome Location	chr7:40802870-40802871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40486893..40487438-chr7:40802655..40803441,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1013575	1.00[EUR][1000 genomes]
rs1013576	1.00[EUR][1000 genomes]
rs10486815	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531482	1.00[EUR][1000 genomes]
rs12531846	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532716	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532916	1.00[EUR][1000 genomes]
rs12534713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538963	1.00[EUR][1000 genomes]
rs12539159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17714132	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714215	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714523	1.00[EUR][1000 genomes]
rs17770820	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921751	1.00[EUR][1000 genomes]
rs1990190	1.00[EUR][1000 genomes]
rs2302027	1.00[EUR][1000 genomes]
rs35105954	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720372	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720374	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4720375	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720376	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720382	1.00[EUR][1000 genomes]
rs4720383	1.00[EUR][1000 genomes]
rs4723975	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4723981	1.00[EUR][1000 genomes]
rs723837	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7781779	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7794957	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

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	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40798200-40809400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:40798800-40803400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:40799800-40804600	Enhancers	Fetal Lung	lung
4	chr7:40801000-40803200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:40801000-40803200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:40801000-40808200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:40801200-40805200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:40801400-40803000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:40801600-40803200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:40801800-40803200	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:40801800-40803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:40802000-40803000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:40802000-40803200	Weak transcription	Brain Angular Gyrus	brain
14	chr7:40802200-40803200	Weak transcription	Brain Anterior Caudate	brain
15	chr7:40802600-40803000	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:40802800-40803000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:40802800-40803000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:40802800-40803000	Enhancers	HSMMtube	muscle
19	chr7:40802800-40803000	Enhancers	NHLF	lung
20	chr7:40802800-40803000	Enhancers	Osteobl	bone
21	chr7:40802800-40803200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:40802800-40803200	Enhancers	Aorta	Aorta
23	chr7:40802800-40803600	Enhancers	Brain Substantia Nigra	brain
24	chr7:40802800-40803800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:40802800-40804400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:40802800-40804400	Enhancers	NHDF-Ad	bronchial
27	chr7:40802800-40804600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:40802800-40804600	Enhancers	HSMM	muscle

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