Variant report

Variant	rs58561548
Chromosome Location	chr4:79971612-79971613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs57602269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57941709	0.83[AFR][1000 genomes]
rs72864101	1.00[ASN][1000 genomes]
rs73828203	1.00[AFR][1000 genomes]
rs73828204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73828229	1.00[AMR][1000 genomes]
rs73830208	1.00[AMR][1000 genomes]
rs73830226	1.00[AMR][1000 genomes]
rs73830239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830262	1.00[AMR][1000 genomes]
rs73830269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830280	1.00[AFR][1000 genomes]
rs73830281	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	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
2	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3448470	chr4:79898340-80026510	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv432614	chr4:79910989-79993822	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79965600-79973200	Weak transcription	K562	blood
2	chr4:79967800-79979600	Weak transcription	Aorta	Aorta
3	chr4:79968000-79973800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:79969800-79973400	Enhancers	Fetal Brain Male	brain
5	chr4:79970000-79972400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:79970000-79975000	Weak transcription	Fetal Heart	heart
7	chr4:79970400-79971800	Weak transcription	Fetal Lung	lung
8	chr4:79970400-79978200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:79970400-79978600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:79971000-79971800	Active TSS	Duodenum Mucosa	Duodenum
11	chr4:79971000-79972000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:79971000-79972000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:79971200-79972000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr4:79971200-79972000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr4:79971400-79971800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr4:79971400-79971800	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr4:79971400-79971800	Active TSS	Colonic Mucosa	Colon
18	chr4:79971400-79971800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:79971400-79971800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr4:79971400-79972000	Bivalent Enhancer	Fetal Stomach	stomach
21	chr4:79971400-79972000	Enhancers	Pancreas	Pancrea
22	chr4:79971400-79972000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:79971400-79972200	Enhancers	Brain Germinal Matrix	brain
24	chr4:79971600-79971800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:79971600-79971800	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr4:79971600-79971800	Bivalent/Poised TSS	NHDF-Ad	bronchial
27	chr4:79971600-79972000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:79971600-79972000	Enhancers	Brain Substantia Nigra	brain
29	chr4:79971600-79972000	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:79971600-79972000	Enhancers	Fetal Brain Female	brain
31	chr4:79971600-79972000	Enhancers	Fetal Muscle Leg	muscle
32	chr4:79971600-79972000	Enhancers	Rectal Mucosa Donor 29	rectum

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