Variant report

Variant	rs72869048
Chromosome Location	chr3:43042708-43042709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43034830..43037319-chr3:43041912..43044241,2	K562	blood:
2	chr3:43042013..43044443-chr3:43044465..43047233,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17074830	1.00[AMR][1000 genomes]
rs17074832	1.00[AMR][1000 genomes]
rs56734964	1.00[AMR][1000 genomes]
rs58771312	1.00[AMR][1000 genomes]
rs59266989	1.00[AMR][1000 genomes]
rs60549782	1.00[AMR][1000 genomes]
rs72867312	1.00[AMR][1000 genomes]
rs72867329	1.00[AMR][1000 genomes]
rs72869041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72869053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72869076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72870823	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv460523	chr3:43025986-43063406	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv590150	chr3:43025986-43063406	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43034200-43043400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:43037200-43044200	Enhancers	Fetal Muscle Leg	muscle
3	chr3:43037800-43044600	Enhancers	Liver	Liver
4	chr3:43038400-43043400	Enhancers	Brain Substantia Nigra	brain
5	chr3:43039600-43043200	Weak transcription	Fetal Intestine Small	intestine
6	chr3:43039800-43044200	Enhancers	Brain Hippocampus Middle	brain
7	chr3:43040000-43043600	Enhancers	Fetal Muscle Trunk	muscle
8	chr3:43040000-43044600	Enhancers	Fetal Stomach	stomach
9	chr3:43040200-43043400	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:43040200-43043400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:43040200-43044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:43040400-43043200	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:43040400-43044000	Enhancers	Fetal Lung	lung
14	chr3:43040600-43043000	Enhancers	Colon Smooth Muscle	Colon
15	chr3:43040600-43043400	Enhancers	Brain Angular Gyrus	brain
16	chr3:43040800-43042800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:43040800-43043000	Enhancers	Adipose Nuclei	Adipose
18	chr3:43040800-43043800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr3:43040800-43044200	Enhancers	Ovary	ovary
20	chr3:43041800-43043000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:43041800-43043600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:43042000-43043000	Weak transcription	Colonic Mucosa	Colon
23	chr3:43042000-43043800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:43042000-43044200	Enhancers	NHDF-Ad	bronchial
25	chr3:43042200-43043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:43042200-43043600	Enhancers	Psoas Muscle	Psoas
27	chr3:43042200-43043800	Enhancers	Fetal Kidney	kidney
28	chr3:43042200-43044200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:43042400-43042800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:43042400-43043000	Enhancers	Osteobl	bone
31	chr3:43042400-43043200	Enhancers	Fetal Intestine Large	intestine
32	chr3:43042400-43043200	Enhancers	Right Ventricle	heart
33	chr3:43042400-43043200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr3:43042400-43043400	Enhancers	Pancreas	Pancrea
35	chr3:43042400-43043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:43042400-43043600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr3:43042400-43043600	Enhancers	NHLF	lung
38	chr3:43042600-43042800	Enhancers	Gastric	stomach
39	chr3:43042600-43042800	Enhancers	Hela-S3	cervix
40	chr3:43042600-43043000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:43042600-43043200	Weak transcription	Placenta	Placenta
42	chr3:43042600-43043200	Weak transcription	Lung	lung
43	chr3:43042600-43043200	Enhancers	Stomach Mucosa	stomach
44	chr3:43042600-43043200	Flanking Active TSS	HSMMtube	muscle
45	chr3:43042600-43043400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:43042600-43043400	Enhancers	Brain Anterior Caudate	brain
47	chr3:43042600-43043400	Enhancers	Right Atrium	heart
48	chr3:43042600-43043400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr3:43042600-43043600	Enhancers	Left Ventricle	heart
50	chr3:43042600-43043600	Enhancers	Rectal Mucosa Donor 31	rectum

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