Variant report

Variant	rs34867936
Chromosome Location	chr5:118590532-118590533
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	chr5:118583032..118585646-chr5:118590465..118591965,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10073801	0.85[ASN][1000 genomes]
rs2404396	0.93[ASN][1000 genomes]
rs2404398	0.93[ASN][1000 genomes]
rs61279074	0.89[AFR][1000 genomes]
rs6595178	0.81[AFR][1000 genomes]
rs6595179	0.82[EUR][1000 genomes]
rs6892204	0.81[ASN][1000 genomes]
rs7356611	0.89[ASN][1000 genomes]
rs9327093	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
2	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
3	chr5:118538200-118590600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:118539200-118591000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118544600-118591400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:118555200-118590800	Weak transcription	Hela-S3	cervix
7	chr5:118557400-118591400	Weak transcription	HepG2	liver
8	chr5:118570800-118590800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:118570800-118591000	Weak transcription	Thymus	Thymus
10	chr5:118571200-118591400	Weak transcription	Placenta	Placenta
11	chr5:118571800-118591000	Weak transcription	Fetal Heart	heart
12	chr5:118577200-118590800	Weak transcription	Fetal Stomach	stomach
13	chr5:118577400-118591600	Weak transcription	Gastric	stomach
14	chr5:118580400-118591400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:118580400-118591400	Weak transcription	K562	blood
16	chr5:118583000-118591400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:118583400-118594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:118583800-118591400	Weak transcription	Adipose Nuclei	Adipose
19	chr5:118585000-118591000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr5:118587400-118591200	Weak transcription	Primary T cells from cord blood	blood
21	chr5:118587800-118590600	Weak transcription	Liver	Liver
22	chr5:118588400-118590600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:118588800-118590600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:118589000-118591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:118590000-118591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:118590200-118592200	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr5:118590400-118590600	Enhancers	Left Ventricle	heart

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