Variant report

Variant	rs58496049
Chromosome Location	chr4:62422236-62422237
allele	A/T
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:8)

rs_ID	r²[population]
rs10517540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1497903	1.00[AMR][1000 genomes]
rs17081925	1.00[AMR][1000 genomes]
rs7655377	1.00[AMR][1000 genomes]
rs7693587	1.00[AMR][1000 genomes]
rs954164	1.00[AMR][1000 genomes]
rs9968259	1.00[AMR][1000 genomes]
rs9968477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2753138	chr4:62271444-62442507	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004815	chr4:62398737-62553769	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv537110	chr4:62398737-62553769	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1004432	chr4:62408333-62444506	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv537111	chr4:62408333-62444506	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv594329	chr4:62416593-62478230	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv879077	chr4:62419426-62545435	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62419200-62424600	Enhancers	Fetal Intestine Large	intestine
2	chr4:62419400-62423400	Enhancers	Stomach Mucosa	stomach
3	chr4:62419600-62425600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:62420800-62424400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:62421000-62423600	Enhancers	NH-A	brain
6	chr4:62421000-62423800	Enhancers	Fetal Heart	heart
7	chr4:62421200-62422400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:62421200-62422400	Enhancers	Ovary	ovary
9	chr4:62421200-62422400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr4:62421200-62422600	Enhancers	Small Intestine	intestine
11	chr4:62421200-62423600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:62421200-62423600	Enhancers	Fetal Intestine Small	intestine
13	chr4:62421400-62422400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:62421400-62423400	Enhancers	Duodenum Mucosa	Duodenum
15	chr4:62421600-62422400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:62421600-62422800	Enhancers	HepG2	liver
17	chr4:62421800-62422600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:62422000-62422400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:62422000-62422600	Enhancers	Fetal Muscle Leg	muscle
20	chr4:62422000-62425200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:62422000-62425400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:62422200-62425200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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