Variant report

Variant	rs991727
Chromosome Location	chr5:56995038-56995039
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10057570	0.93[AFR][1000 genomes]
rs10057880	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10063185	0.91[ASN][1000 genomes]
rs10069403	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10072292	1.00[YRI][hapmap]
rs10077005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10487613	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10487614	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10940575	0.91[ASN][1000 genomes]
rs12520986	1.00[AFR][1000 genomes]
rs13162397	0.91[ASN][1000 genomes]
rs13185580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347071	1.00[YRI][hapmap]
rs170740	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs170741	0.93[AFR][1000 genomes]
rs1821210	1.00[YRI][hapmap]
rs183477	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1861052	0.81[AFR][1000 genomes]
rs1861059	1.00[YRI][hapmap]
rs2017201	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041677	0.91[ASN][1000 genomes]
rs2041678	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2161500	0.81[AFR][1000 genomes]
rs2191444	0.88[EUR][1000 genomes]
rs2191445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2191446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2191448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215420	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs229960	1.00[AFR][1000 genomes]
rs229961	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs229963	1.00[AFR][1000 genomes]
rs229965	1.00[AFR][1000 genomes]
rs230846	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs230853	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs230860	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs230861	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2408846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408847	0.91[ASN][1000 genomes]
rs2408849	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2408850	0.86[AFR][1000 genomes]
rs2408854	1.00[YRI][hapmap]
rs2568537	1.00[YRI][hapmap]
rs2898028	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4141129	0.91[ASN][1000 genomes]
rs4235474	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4403130	1.00[YRI][hapmap]
rs4458541	1.00[YRI][hapmap]
rs4508990	0.86[AFR][1000 genomes]
rs4699910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699913	1.00[YRI][hapmap]
rs4700214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700217	0.91[ASN][1000 genomes]
rs4700233	1.00[YRI][hapmap]
rs6450430	0.90[EUR][1000 genomes]
rs6450431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6866242	0.86[AFR][1000 genomes]
rs6886241	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7726732	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7732108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737409	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs854036	1.00[YRI][hapmap]
rs917655	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9292141	0.91[ASN][1000 genomes]
rs986101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56988600-56995400	Enhancers	Adipose Nuclei	Adipose
2	chr5:56989400-56996000	Enhancers	Fetal Heart	heart
3	chr5:56989600-56996400	Weak transcription	Psoas Muscle	Psoas
4	chr5:56990000-56995200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:56990200-57005600	Weak transcription	NH-A	brain
6	chr5:56990400-56996200	Enhancers	HMEC	breast
7	chr5:56990600-56996600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:56991400-56996000	Enhancers	NHEK	skin
9	chr5:56992000-56995600	Enhancers	HUVEC	blood vessel
10	chr5:56992200-56996800	Enhancers	Fetal Lung	lung
11	chr5:56992400-56995400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:56992400-56995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:56992400-57004400	Weak transcription	Left Ventricle	heart
14	chr5:56993600-56995200	Enhancers	A549	lung
15	chr5:56993600-56995400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:56994200-56995400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:56994200-56995600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:56994200-56996000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:56994200-56996000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:56994600-56995200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:56994600-56995400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:56994800-56996400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:56995000-56995400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:56995000-56995400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr5:56995000-56996600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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