Variant report

Variant	rs62249581
Chromosome Location	chr3:43043647-43043648
allele	C/T
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11710681	0.90[EUR][1000 genomes]
rs11711497	0.89[EUR][1000 genomes]
rs11711635	0.90[EUR][1000 genomes]
rs11711770	0.81[EUR][1000 genomes]
rs11718847	0.96[EUR][1000 genomes]
rs1533697	0.89[EUR][1000 genomes]
rs17075084	0.89[EUR][1000 genomes]
rs55989335	0.90[EUR][1000 genomes]
rs57079337	0.89[EUR][1000 genomes]
rs57641345	0.80[EUR][1000 genomes]
rs62247069	0.89[EUR][1000 genomes]
rs62247120	0.89[EUR][1000 genomes]
rs62247121	0.89[EUR][1000 genomes]
rs72869056	1.00[EUR][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:30 , 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	chr3:43040400-43044000	Enhancers	Fetal Lung	lung
7	chr3:43040800-43043800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr3:43040800-43044200	Enhancers	Ovary	ovary
9	chr3:43042000-43043800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:43042000-43044200	Enhancers	NHDF-Ad	bronchial
11	chr3:43042200-43043800	Enhancers	Fetal Kidney	kidney
12	chr3:43042200-43044200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:43042600-43043800	Enhancers	HepG2	liver
14	chr3:43043000-43043800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr3:43043000-43044000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:43043000-43044000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:43043000-43044000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:43043000-43044000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr3:43043200-43044000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:43043200-43047000	Weak transcription	Fetal Intestine Large	intestine
21	chr3:43043400-43044800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:43043400-43045400	Weak transcription	HSMMtube	muscle
23	chr3:43043400-43046800	Weak transcription	Brain Substantia Nigra	brain
24	chr3:43043400-43047000	Weak transcription	Brain Anterior Caudate	brain
25	chr3:43043600-43044200	Enhancers	Osteobl	bone
26	chr3:43043600-43044600	Enhancers	Stomach Smooth Muscle	stomach
27	chr3:43043600-43044800	Enhancers	Rectal Smooth Muscle	rectum
28	chr3:43043600-43045800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:43043600-43046200	Weak transcription	NHLF	lung
30	chr3:43043600-43054400	Weak transcription	Placenta	Placenta

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