Variant report

Variant	rs73905416
Chromosome Location	chr20:24631095-24631096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:24448836..24451309-chr20:24629831..24631551,2	MCF-7	breast:
2	chr20:24630307..24631279-chr20:24640279..24641332,14	MCF-7	breast:
3	chr20:24237902..24238701-chr20:24630250..24631153,4	MCF-7	breast:
4	chr20:24630261..24631279-chr20:24640264..24641332,21	MCF-7	breast:
5	chr20:24630442..24631150-chr20:24777044..24777861,2	MCF-7	breast:
6	chr20:24629904..24632760-chr20:24759535..24761078,2	MCF-7	breast:
7	chr20:24629731..24632578-chr20:24657556..24659618,3	MCF-7	breast:
8	chr20:24612466..24614630-chr20:24629800..24632618,2	MCF-7	breast:
9	chr20:24630253..24631426-chr20:24640312..24641216,7	MCF-7	breast:
10	chr20:24630371..24631127-chr20:24753147..24753931,3	MCF-7	breast:
11	chr20:24629448..24631960-chr20:24674530..24677062,2	MCF-7	breast:
12	chr20:24237874..24238722-chr20:24630391..24631249,3	MCF-7	breast:
13	chr20:24630391..24631212-chr20:24752974..24753906,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101463	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56273983	1.00[AMR][1000 genomes]
rs57269062	1.00[AMR][1000 genomes]
rs57684217	1.00[AMR][1000 genomes]
rs58113049	1.00[AMR][1000 genomes]
rs58257276	1.00[AMR][1000 genomes]
rs6036859	1.00[AMR][1000 genomes]
rs60918606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61313692	1.00[AMR][1000 genomes]
rs7354752	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73902580	1.00[AMR][1000 genomes]
rs73902785	1.00[AMR][1000 genomes]
rs73902786	1.00[AMR][1000 genomes]
rs73902787	1.00[AMR][1000 genomes]
rs73902788	1.00[AMR][1000 genomes]
rs73902790	1.00[AMR][1000 genomes]
rs73905125	1.00[AMR][1000 genomes]
rs73905414	1.00[AMR][1000 genomes]
rs8119455	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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv912824	chr20:24612808-24639916	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24615400-24633800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:24616200-24639600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:24620000-24641200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:24625600-24633800	Weak transcription	Spleen	Spleen
5	chr20:24628000-24633600	Enhancers	Fetal Brain Male	brain
6	chr20:24628600-24631600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:24628600-24631800	Weak transcription	HMEC	breast
8	chr20:24629000-24633600	Enhancers	NHLF	lung
9	chr20:24629200-24634600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:24629200-24642600	Weak transcription	Right Atrium	heart
11	chr20:24629400-24632600	Enhancers	Fetal Brain Female	brain
12	chr20:24629400-24641000	Weak transcription	Right Ventricle	heart
13	chr20:24630000-24631800	Enhancers	Fetal Stomach	stomach
14	chr20:24630200-24631400	Enhancers	Colon Smooth Muscle	Colon
15	chr20:24630200-24631600	Enhancers	Fetal Lung	lung
16	chr20:24630200-24631600	Enhancers	Ovary	ovary
17	chr20:24630200-24631600	Enhancers	HSMMtube	muscle
18	chr20:24630200-24634600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:24630200-24634800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:24630400-24631200	Enhancers	Brain Anterior Caudate	brain
21	chr20:24630400-24631600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:24630400-24633600	Enhancers	Placenta	Placenta
23	chr20:24630600-24631200	Enhancers	Brain Cingulate Gyrus	brain
24	chr20:24630600-24631400	Enhancers	Rectal Smooth Muscle	rectum
25	chr20:24630600-24631400	Flanking Active TSS	Osteobl	bone
26	chr20:24630600-24632000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:24630600-24632200	Enhancers	HSMM	muscle
28	chr20:24630600-24632200	Enhancers	NHDF-Ad	bronchial
29	chr20:24630600-24632800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr20:24630600-24633800	Enhancers	A549	lung
31	chr20:24630600-24634400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr20:24630600-24634600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr20:24630600-24634600	Enhancers	NH-A	brain
34	chr20:24630800-24631200	Enhancers	Fetal Muscle Leg	muscle
35	chr20:24630800-24632800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr20:24630800-24633000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr20:24630800-24638600	Weak transcription	Brain Substantia Nigra	brain
38	chr20:24631000-24631200	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr20:24631000-24631600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:24631000-24632200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr20:24631000-24632200	Weak transcription	Brain Hippocampus Middle	brain
42	chr20:24631000-24639600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr20:24631000-24639800	Weak transcription	Brain Angular Gyrus	brain

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