Variant report

Variant	rs335308
Chromosome Location	chr4:62381917-62381918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11722703	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11725619	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11734047	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11734084	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs186750	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2100593	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28716290	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs335299	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs335300	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs335306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs335307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335310	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335311	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335312	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335313	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335314	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335315	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335316	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335317	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335318	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335319	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335321	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs335323	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4860095	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9992329	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9994628	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9994639	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1005770	chr4:62344379-62398798	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv537109	chr4:62344379-62398798	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62366800-62383000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:62373600-62385600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:62378000-62386400	Weak transcription	Stomach Mucosa	stomach
4	chr4:62380000-62382400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:62380000-62383000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:62380000-62383000	Weak transcription	Fetal Stomach	stomach
7	chr4:62380000-62385800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:62380800-62382400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:62380800-62384200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:62381000-62384200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:62381000-62386400	Weak transcription	Brain Anterior Caudate	brain
12	chr4:62381400-62386600	Weak transcription	HMEC	breast
13	chr4:62381800-62386200	Weak transcription	NHEK	skin

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