Variant report

Variant	rs73927439
Chromosome Location	chr2:40102599-40102600
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40081608..40083244-chr2:40101423..40104022,3	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10084468	0.86[EUR][1000 genomes]
rs12328526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432404	1.00[EUR][1000 genomes]
rs55705994	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55885648	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56357782	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093708	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59235036	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61129196	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6544265	0.87[EUR][1000 genomes]
rs6727511	1.00[EUR][1000 genomes]
rs6733262	0.85[AMR][1000 genomes]
rs72944447	1.00[EUR][1000 genomes]
rs73927417	1.00[EUR][1000 genomes]
rs73927419	1.00[EUR][1000 genomes]
rs73927420	1.00[EUR][1000 genomes]
rs73927421	1.00[EUR][1000 genomes]
rs73927435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927436	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927438	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927441	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927448	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73927449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7565203	1.00[AMR][1000 genomes]
rs7583312	1.00[EUR][1000 genomes]
rs7600823	1.00[AMR][1000 genomes]
rs7608457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7608671	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967698	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967701	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967778	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967782	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967853	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv873891	chr2:40046658-40173905	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916300	chr2:40079899-40339019	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv430947	chr2:40080723-40141649	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv581496	chr2:40082054-40123904	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1003896	chr2:40094081-40231585	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:40099200-40102600	Weak transcription	NHDF-Ad	bronchial
2	chr2:40099400-40102800	Weak transcription	HSMM	muscle
3	chr2:40101800-40102800	Weak transcription	NHLF	lung
4	chr2:40102000-40102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:40102000-40103400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:40102000-40103400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:40102200-40102600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:40102200-40102600	Enhancers	Stomach Smooth Muscle	stomach
9	chr2:40102200-40102800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:40102200-40102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:40102200-40103000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:40102400-40102600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:40102400-40102800	Enhancers	Aorta	Aorta
14	chr2:40102400-40102800	Enhancers	Fetal Stomach	stomach
15	chr2:40102400-40103000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:40102400-40103000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:40102400-40103000	Enhancers	Fetal Muscle Leg	muscle
18	chr2:40102400-40103000	Enhancers	NHEK	skin
19	chr2:40102400-40103200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:40102400-40103200	Enhancers	Brain Anterior Caudate	brain
21	chr2:40102400-40103200	Enhancers	NH-A	brain
22	chr2:40102400-40103400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:40102400-40103400	Enhancers	Ovary	ovary
24	chr2:40102400-40103400	Enhancers	A549	lung
25	chr2:40102400-40103400	Enhancers	HMEC	breast
26	chr2:40102400-40103400	Enhancers	Osteobl	bone
27	chr2:40102400-40103600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:40102400-40103600	Enhancers	Colon Smooth Muscle	Colon

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