Variant report

Variant	rs7985030
Chromosome Location	chr13:92468571-92468572
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:91998535..92001268-chr13:92468179..92469811,2	K562	blood:
2	chr13:92008413..92010506-chr13:92466310..92469194,2	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12050058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12430247	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431259	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap]
rs1330472	0.89[CHB][hapmap]
rs1394888	0.90[CHB][hapmap]
rs1411518	1.00[CEU][hapmap]
rs1412313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1505565	0.94[CHB][hapmap]
rs173141	0.94[CHB][hapmap]
rs17668312	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17668748	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1827755	0.90[CHB][hapmap]
rs1831564	0.90[CHB][hapmap]
rs1847717	0.88[CHB][hapmap]
rs1929922	0.82[ASN][1000 genomes]
rs193208	0.95[CHB][hapmap]
rs1988500	0.90[CHB][hapmap]
rs2352028	0.95[CHB][hapmap]
rs2352029	1.00[CHB][hapmap]
rs2352202	0.90[CHB][hapmap]
rs2938868	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2938869	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs2938874	0.95[CHB][hapmap]
rs2989991	0.81[ASN][1000 genomes]
rs2989995	1.00[CHB][hapmap]
rs2990004	0.95[CHB][hapmap]
rs2990007	0.95[CHB][hapmap]
rs342706	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs400118	0.94[CHB][hapmap]
rs464160	0.95[CHB][hapmap]
rs528366	0.95[CHB][hapmap]
rs535973	0.95[CHB][hapmap]
rs57676883	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58499122	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58505971	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58932811	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59464246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60993910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492566	1.00[CEU][hapmap]
rs72647267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320766	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs7336461	0.81[ASN][1000 genomes]
rs7981451	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7986027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7987852	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs7997428	0.89[CHB][hapmap]
rs9515975	0.90[CHB][hapmap]
rs9556115	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9556116	0.94[ASN][1000 genomes]
rs9556119	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9556120	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9556125	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs9560849	0.81[CHB][hapmap]
rs9560852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9560853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9560856	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9560860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9560861	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9560865	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9560868	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9560869	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap]
rs9560874	1.00[CEU][hapmap];0.94[CHB][hapmap]
rs9560875	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs9560880	0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs9560883	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs9589358	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv456065	chr13:92383193-92507887	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv562719	chr13:92383193-92507887	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv948820	chr13:92408505-92519053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv524271	chr13:92419769-92501664	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv562720	chr13:92419769-92501664	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1036226	chr13:92421721-92501284	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1053048	chr13:92421721-92501558	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1053597	chr13:92421721-92502205	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3378326	chr13:92445514-92816367	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92467600-92469600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:92467800-92469000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:92467800-92469200	Enhancers	HSMMtube	muscle
4	chr13:92467800-92469400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:92467800-92469600	Enhancers	Fetal Lung	lung
6	chr13:92468000-92469200	Enhancers	Primary hematopoietic stem cells	blood
7	chr13:92468200-92469600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr13:92468400-92469200	Enhancers	Fetal Stomach	stomach
9	chr13:92468400-92469800	Enhancers	Colon Smooth Muscle	Colon
10	chr13:92468400-92470600	Enhancers	Fetal Kidney	kidney

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