Variant report

Variant	rs73242656
Chromosome Location	chr4:57985829-57985830
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	chr4:57985346..57986006-chr5:32173244..32173861,2	Hela-S3	cervix:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11573048	0.87[EUR][1000 genomes]
rs35281174	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73242642	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73242644	0.83[AFR][1000 genomes]
rs73242645	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73242647	0.83[AFR][1000 genomes]
rs73242650	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73242651	0.83[AFR][1000 genomes]
rs73242657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242658	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242659	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242660	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242661	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57984000-57986000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:57984000-57986400	Enhancers	Fetal Stomach	stomach
3	chr4:57984200-57986000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:57984400-57986200	Enhancers	HUVEC	blood vessel
5	chr4:57984400-57986400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:57984600-57986200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:57984800-57986000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:57984800-57986000	Flanking Active TSS	HSMMtube	muscle
9	chr4:57985000-57986000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:57985000-57986000	Enhancers	Fetal Muscle Leg	muscle
11	chr4:57985000-57986000	Flanking Active TSS	Hela-S3	cervix
12	chr4:57985000-57986000	Flanking Active TSS	NHLF	lung
13	chr4:57985000-57986000	Flanking Active TSS	Osteobl	bone
14	chr4:57985000-57986200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:57985000-57986200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:57985000-57986200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:57985000-57986200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:57985000-57986200	Enhancers	Fetal Lung	lung
19	chr4:57985000-57986200	Flanking Active TSS	NH-A	brain
20	chr4:57985200-57986200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr4:57985400-57986000	Enhancers	Brain Cingulate Gyrus	brain
22	chr4:57985400-57986000	Weak transcription	Fetal Kidney	kidney
23	chr4:57985400-57986000	Enhancers	Fetal Muscle Trunk	muscle
24	chr4:57985400-57986000	Enhancers	Right Ventricle	heart
25	chr4:57985400-57986000	Active TSS	Stomach Smooth Muscle	stomach
26	chr4:57985400-57986200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:57985600-57986000	Enhancers	Brain Anterior Caudate	brain
28	chr4:57985600-57986200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:57985800-57986000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:57985800-57986000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:57985800-57986000	Enhancers	Brain Hippocampus Middle	brain
32	chr4:57985800-57986000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr4:57985800-57986000	Enhancers	Colon Smooth Muscle	Colon
34	chr4:57985800-57986000	Enhancers	Left Ventricle	heart
35	chr4:57985800-57986000	Enhancers	Lung	lung
36	chr4:57985800-57986000	Enhancers	NHDF-Ad	bronchial
37	chr4:57985800-57986200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:57985800-57986200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:57985800-57986200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:57985800-57986200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:57985800-57986200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:57985800-57986200	Enhancers	Adipose Nuclei	Adipose
43	chr4:57985800-57986200	Enhancers	Aorta	Aorta
44	chr4:57985800-57986200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr4:57985800-57986200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr4:57985800-57986200	Enhancers	Ovary	ovary
47	chr4:57985800-57986200	Enhancers	Rectal Smooth Muscle	rectum
48	chr4:57985800-57986200	Enhancers	Right Atrium	heart
49	chr4:57985800-57986200	Enhancers	Small Intestine	intestine
50	chr4:57985800-57986200	Enhancers	A549	lung

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