Variant report

Variant	rs28685737
Chromosome Location	chr2:47045166-47045167
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	chr2:47044554..47046907-chr2:47075215..47076971,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28447616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41324947	1.00[AMR][1000 genomes]
rs41359846	1.00[AMR][1000 genomes]
rs41482150	1.00[AMR][1000 genomes]
rs60101351	1.00[AMR][1000 genomes]
rs6757522	1.00[AMR][1000 genomes]
rs6759105	1.00[AMR][1000 genomes]
rs72884790	1.00[AMR][1000 genomes]
rs72884794	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	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	chr2:47040600-47045200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:47040600-47045200	Weak transcription	HSMMtube	muscle
9	chr2:47042400-47047000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:47042400-47048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:47042800-47053400	Weak transcription	Fetal Lung	lung
12	chr2:47043800-47046400	Enhancers	Fetal Heart	heart
13	chr2:47043800-47046400	Enhancers	Left Ventricle	heart
14	chr2:47044000-47046000	Enhancers	Colon Smooth Muscle	Colon
15	chr2:47044000-47046200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:47044000-47046200	Enhancers	Psoas Muscle	Psoas
17	chr2:47044200-47046200	Enhancers	Adipose Nuclei	Adipose
18	chr2:47044400-47045200	Enhancers	Spleen	Spleen
19	chr2:47044400-47045400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr2:47044400-47045800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:47044400-47045800	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:47044400-47046000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:47044400-47046200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:47044600-47046000	Enhancers	Aorta	Aorta
25	chr2:47044600-47046000	Enhancers	Brain Anterior Caudate	brain
26	chr2:47044600-47046000	Enhancers	Ovary	ovary
27	chr2:47044600-47046000	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:47044600-47046200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr2:47044600-47046200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:47044600-47046200	Enhancers	Brain Substantia Nigra	brain
31	chr2:47044800-47046200	Enhancers	Brain Hippocampus Middle	brain
32	chr2:47045000-47045200	Active TSS	Placenta	Placenta
33	chr2:47045000-47045200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:47045000-47045200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr2:47045000-47045400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:47045000-47045600	Enhancers	NHDF-Ad	bronchial
37	chr2:47045000-47045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:47045000-47045800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:47045000-47046000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:47045000-47046000	Weak transcription	Esophagus	oesophagus
41	chr2:47045000-47046000	Enhancers	Fetal Muscle Leg	muscle

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