Variant report

Variant	rs2289933
Chromosome Location	chr2:47045309-47045310
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	chr2:47044554..47046907-chr2:47075215..47076971,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11683874	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278715	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289929	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2289930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953426	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718957	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][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	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47038600-47046400	Enhancers	Lung	lung
3	chr2:47038600-47046400	Enhancers	Right Atrium	heart
4	chr2:47038800-47046200	Enhancers	Right Ventricle	heart
5	chr2:47039800-47053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:47040400-47045800	Weak transcription	HMEC	breast
7	chr2:47042400-47047000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:47042400-47048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:47042800-47053400	Weak transcription	Fetal Lung	lung
10	chr2:47043800-47046400	Enhancers	Fetal Heart	heart
11	chr2:47043800-47046400	Enhancers	Left Ventricle	heart
12	chr2:47044000-47046000	Enhancers	Colon Smooth Muscle	Colon
13	chr2:47044000-47046200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:47044000-47046200	Enhancers	Psoas Muscle	Psoas
15	chr2:47044200-47046200	Enhancers	Adipose Nuclei	Adipose
16	chr2:47044400-47045400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr2:47044400-47045800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:47044400-47045800	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:47044400-47046000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:47044400-47046200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:47044600-47046000	Enhancers	Aorta	Aorta
22	chr2:47044600-47046000	Enhancers	Brain Anterior Caudate	brain
23	chr2:47044600-47046000	Enhancers	Ovary	ovary
24	chr2:47044600-47046000	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:47044600-47046200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:47044600-47046200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:47044600-47046200	Enhancers	Brain Substantia Nigra	brain
28	chr2:47044800-47046200	Enhancers	Brain Hippocampus Middle	brain
29	chr2:47045000-47045400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:47045000-47045600	Enhancers	NHDF-Ad	bronchial
31	chr2:47045000-47045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:47045000-47045800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr2:47045000-47046000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:47045000-47046000	Weak transcription	Esophagus	oesophagus
35	chr2:47045000-47046000	Enhancers	Fetal Muscle Leg	muscle
36	chr2:47045200-47045600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:47045200-47045600	Enhancers	HSMMtube	muscle
38	chr2:47045200-47045800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:47045200-47045800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr2:47045200-47046400	Flanking Active TSS	Placenta	Placenta
41	chr2:47045200-47054800	Weak transcription	Spleen	Spleen

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