Variant report

Variant	rs72763119
Chromosome Location	chr5:53191070-53191071
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:53188400..53191172-chr5:53198180..53200460,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10471385	1.00[ASN][1000 genomes]
rs11738715	1.00[ASN][1000 genomes]
rs11739045	1.00[ASN][1000 genomes]
rs11743937	1.00[ASN][1000 genomes]
rs11747933	1.00[ASN][1000 genomes]
rs1388112	1.00[ASN][1000 genomes]
rs1504213	1.00[ASN][1000 genomes]
rs17250294	1.00[ASN][1000 genomes]
rs17319376	1.00[ASN][1000 genomes]
rs2035769	1.00[ASN][1000 genomes]
rs4604144	1.00[ASN][1000 genomes]
rs55846014	1.00[ASN][1000 genomes]
rs56245000	1.00[ASN][1000 genomes]
rs62372372	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372373	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372374	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372375	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372376	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372391	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6898965	1.00[ASN][1000 genomes]
rs72750220	1.00[ASN][1000 genomes]
rs72759303	1.00[ASN][1000 genomes]
rs72759306	1.00[ASN][1000 genomes]
rs72759309	1.00[ASN][1000 genomes]
rs72759312	1.00[ASN][1000 genomes]
rs72759313	1.00[ASN][1000 genomes]
rs72759314	1.00[ASN][1000 genomes]
rs72759388	1.00[ASN][1000 genomes]
rs72759389	1.00[ASN][1000 genomes]
rs72759390	1.00[ASN][1000 genomes]
rs72759397	1.00[ASN][1000 genomes]
rs72759399	1.00[ASN][1000 genomes]
rs72761303	1.00[ASN][1000 genomes]
rs72761304	1.00[ASN][1000 genomes]
rs72761312	1.00[ASN][1000 genomes]
rs72761339	1.00[ASN][1000 genomes]
rs72763106	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763114	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763115	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763118	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763130	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763132	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763133	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763135	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763156	1.00[ASN][1000 genomes]
rs72763157	1.00[ASN][1000 genomes]
rs7737026	1.00[ASN][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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53173800-53227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:53174400-53211000	Weak transcription	K562	blood
3	chr5:53177000-53212800	Weak transcription	Fetal Intestine Small	intestine
4	chr5:53180000-53194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:53187600-53232800	Weak transcription	Primary T cells from cord blood	blood
6	chr5:53189800-53216600	Weak transcription	Left Ventricle	heart
7	chr5:53190800-53191400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:53190800-53192200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:53190800-53205200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:53191000-53191200	Enhancers	Fetal Kidney	kidney
11	chr5:53191000-53191400	Enhancers	Fetal Muscle Leg	muscle

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