Variant report

Variant	rs609725
Chromosome Location	chr3:43044024-43044025
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	chr3:43034830..43037319-chr3:43041912..43044241,2	K562	blood:
2	chr3:43042013..43044443-chr3:43044465..43047233,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs483765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501852	0.82[AFR][1000 genomes]
rs513065	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs834187	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs834585	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv460523	chr3:43025986-43063406	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv590150	chr3:43025986-43063406	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43037200-43044200	Enhancers	Fetal Muscle Leg	muscle
2	chr3:43037800-43044600	Enhancers	Liver	Liver
3	chr3:43039800-43044200	Enhancers	Brain Hippocampus Middle	brain
4	chr3:43040000-43044600	Enhancers	Fetal Stomach	stomach
5	chr3:43040200-43044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:43040800-43044200	Enhancers	Ovary	ovary
7	chr3:43042000-43044200	Enhancers	NHDF-Ad	bronchial
8	chr3:43042200-43044200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:43043200-43047000	Weak transcription	Fetal Intestine Large	intestine
10	chr3:43043400-43044800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:43043400-43045400	Weak transcription	HSMMtube	muscle
12	chr3:43043400-43046800	Weak transcription	Brain Substantia Nigra	brain
13	chr3:43043400-43047000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:43043600-43044200	Enhancers	Osteobl	bone
15	chr3:43043600-43044600	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:43043600-43044800	Enhancers	Rectal Smooth Muscle	rectum
17	chr3:43043600-43045800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr3:43043600-43046200	Weak transcription	NHLF	lung
19	chr3:43043600-43054400	Weak transcription	Placenta	Placenta
20	chr3:43043800-43044800	Enhancers	Colon Smooth Muscle	Colon
21	chr3:43043800-43054600	Weak transcription	Fetal Kidney	kidney
22	chr3:43044000-43044400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:43044000-43044600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:43044000-43044800	Enhancers	Adipose Nuclei	Adipose
25	chr3:43044000-43047000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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