Variant report

Variant	rs1003218
Chromosome Location	chr5:59165074-59165075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1003219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10042020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10066777	0.95[ASN][1000 genomes]
rs10514880	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10514888	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13186506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1369286	1.00[CEU][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs154144	0.90[ASN][1000 genomes]
rs159608	0.84[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs159610	0.90[ASN][1000 genomes]
rs159622	0.84[CHB][hapmap];0.90[ASN][1000 genomes]
rs159624	0.86[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs159626	0.90[ASN][1000 genomes]
rs16890200	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs16890226	1.00[CHB][hapmap]
rs16890228	1.00[CHB][hapmap]
rs16890269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16890316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs173945	0.84[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs17742850	0.89[CEU][hapmap]
rs17799450	0.88[CEU][hapmap]
rs181924	0.90[ASN][1000 genomes]
rs256348	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs256350	0.84[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs256353	0.86[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs6859121	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6868846	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs6889984	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.92[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	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers 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
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59160800-59189000	Weak transcription	Aorta	Aorta
2	chr5:59163200-59168600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:59163600-59166000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:59164400-59165600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:59164400-59165600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:59164600-59165600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:59164800-59165600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:59164800-59165600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:59164800-59172000	Enhancers	HSMM	muscle
10	chr5:59165000-59165200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:59165000-59165200	Enhancers	Brain Germinal Matrix	brain
12	chr5:59165000-59165400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:59165000-59165600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:59165000-59166000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:59165000-59166000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:59165000-59171000	Enhancers	HSMMtube	muscle

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