Variant report

Variant	rs73812413
Chromosome Location	chr4:44918920-44918921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56101804	1.00[AFR][1000 genomes]
rs59723251	1.00[AFR][1000 genomes]
rs59791280	1.00[AFR][1000 genomes]
rs73812415	1.00[AFR][1000 genomes]
rs73812416	1.00[AFR][1000 genomes]
rs73812423	1.00[AFR][1000 genomes]
rs73812427	1.00[AFR][1000 genomes]
rs73812433	1.00[AFR][1000 genomes]
rs73812434	1.00[AFR][1000 genomes]
rs73812440	1.00[AFR][1000 genomes]
rs73812450	1.00[AFR][1000 genomes]
rs73812455	1.00[AFR][1000 genomes]
rs73814592	1.00[AFR][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	nsv531944	chr4:44299343-45200700	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1013488	chr4:44543808-44976123	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv915992	chr4:44705614-44972966	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1014327	chr4:44735209-45218149	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv878979	chr4:44871931-45102488	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44918200-44919200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:44918400-44919000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:44918400-44919000	Active TSS	Brain Hippocampus Middle	brain
4	chr4:44918400-44919000	Active TSS	Brain Substantia Nigra	brain
5	chr4:44918400-44919000	Active TSS	Psoas Muscle	Psoas
6	chr4:44918400-44919000	Active TSS	Right Atrium	heart
7	chr4:44918400-44919000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr4:44918400-44919000	Active TSS	HMEC	breast
9	chr4:44918400-44919000	Active TSS	NHDF-Ad	bronchial
10	chr4:44918400-44919200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr4:44918400-44919200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:44918400-44919200	Active TSS	Aorta	Aorta
13	chr4:44918400-44919200	Active TSS	Brain Angular Gyrus	brain
14	chr4:44918400-44919200	Active TSS	Brain Anterior Caudate	brain
15	chr4:44918400-44919200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr4:44918400-44919200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:44918400-44919200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr4:44918400-44919400	Active TSS	Stomach Smooth Muscle	stomach
19	chr4:44918600-44919000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:44918600-44919000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:44918600-44919000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:44918600-44919000	Active TSS	Colon Smooth Muscle	Colon
23	chr4:44918600-44919000	Active TSS	Hela-S3	cervix
24	chr4:44918600-44919000	Active TSS	HSMMtube	muscle
25	chr4:44918600-44919200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:44918600-44919200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:44918600-44919200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:44918600-44919200	Active TSS	Brain Cingulate Gyrus	brain
29	chr4:44918600-44919200	Active TSS	Ovary	ovary
30	chr4:44918600-44919200	Active TSS	Rectal Smooth Muscle	rectum
31	chr4:44918600-44919200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr4:44918800-44919000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:44918800-44919000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:44918800-44919000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:44918800-44919200	Enhancers	Primary hematopoietic stem cells	blood

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