Variant report

Variant	rs199609
Chromosome Location	chr5:53174943-53174944
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	chr5:53172880..53175597-chr5:53176731..53179099,2	K562	blood:
2	chr5:53174420..53176011-chr5:53181247..53183921,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272416	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs271250	0.82[ASN][1000 genomes]
rs271257	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs271259	0.91[ASN][1000 genomes]
rs271261	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs37539	0.97[ASN][1000 genomes]
rs37540	0.97[ASN][1000 genomes]
rs40211	0.94[ASN][1000 genomes]
rs40212	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv830298	chr5:52973912-53193398	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1019194	chr5:53104869-53178957	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53166400-53175400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:53166800-53176800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:53169600-53178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:53170200-53177600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:53170200-53181800	Weak transcription	Spleen	Spleen
6	chr5:53170800-53175400	Weak transcription	HepG2	liver
7	chr5:53171000-53175400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:53173600-53178000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:53173600-53178000	Weak transcription	NHLF	lung
10	chr5:53173600-53178400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:53173800-53178400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:53173800-53178400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:53173800-53178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:53173800-53227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:53174000-53177400	Weak transcription	NHDF-Ad	bronchial
16	chr5:53174000-53178200	Weak transcription	Osteobl	bone
17	chr5:53174200-53177600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:53174200-53178600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:53174200-53186400	Weak transcription	Left Ventricle	heart
20	chr5:53174400-53211000	Weak transcription	K562	blood
21	chr5:53174800-53175400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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