Variant report

Variant	rs72943129
Chromosome Location	chr2:40545319-40545320
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6544320	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 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	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:40538000-40552000	Weak transcription	Left Ventricle	heart
3	chr2:40542200-40546400	Enhancers	Hela-S3	cervix
4	chr2:40542400-40545400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:40542400-40549600	Enhancers	Fetal Heart	heart
6	chr2:40542400-40559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:40542600-40545400	Enhancers	NHDF-Ad	bronchial
8	chr2:40542600-40545600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:40542600-40545800	Enhancers	Osteobl	bone
10	chr2:40542800-40545400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:40542800-40545400	Enhancers	Fetal Lung	lung
12	chr2:40542800-40556400	Weak transcription	Fetal Stomach	stomach
13	chr2:40543000-40545400	Enhancers	NHLF	lung
14	chr2:40543000-40545600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:40543200-40549400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:40543400-40551600	Weak transcription	Fetal Kidney	kidney
18	chr2:40544400-40545400	Enhancers	NH-A	brain
19	chr2:40545000-40545400	Enhancers	Ovary	ovary
20	chr2:40545000-40545400	Enhancers	Right Ventricle	heart
21	chr2:40545000-40545800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:40545000-40546200	Weak transcription	HSMMtube	muscle
23	chr2:40545000-40552000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:40545200-40545800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:40545200-40546400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:40545200-40549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:40545200-40549000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:40545200-40559200	Weak transcription	HSMM	muscle

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