Variant report

Variant	rs58008430
Chromosome Location	chr5:108595048-108595049
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	chr5:108588035..108590864-chr5:108591937..108595459,4	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10038277	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10038365	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10039717	0.91[ASN][1000 genomes]
rs10052140	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10063202	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10067272	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1117583	0.84[ASN][1000 genomes]
rs1118709	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11241001	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11241002	0.84[ASN][1000 genomes]
rs11739970	0.84[ASN][1000 genomes]
rs11740036	0.81[ASN][1000 genomes]
rs11958988	0.95[ASN][1000 genomes]
rs12515066	0.81[ASN][1000 genomes]
rs12515227	0.87[ASN][1000 genomes]
rs12519126	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12520883	0.82[ASN][1000 genomes]
rs12651735	0.83[ASN][1000 genomes]
rs12652412	0.83[ASN][1000 genomes]
rs12655632	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363215	0.93[ASN][1000 genomes]
rs1477285	0.93[ASN][1000 genomes]
rs1592804	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1592805	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1592808	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17161649	0.94[ASN][1000 genomes]
rs1833565	0.96[ASN][1000 genomes]
rs1833566	1.00[ASN][1000 genomes]
rs1833570	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1968228	0.93[ASN][1000 genomes]
rs1988840	0.81[ASN][1000 genomes]
rs2016908	0.94[ASN][1000 genomes]
rs2080856	0.87[ASN][1000 genomes]
rs2080857	0.84[ASN][1000 genomes]
rs2161163	0.96[ASN][1000 genomes]
rs2193982	0.84[ASN][1000 genomes]
rs2416201	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2416203	0.84[ASN][1000 genomes]
rs60191921	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594364	0.94[ASN][1000 genomes]
rs6594368	0.82[ASN][1000 genomes]
rs6866681	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6882785	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6885647	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73217809	1.00[ASN][1000 genomes]
rs7700459	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7701445	0.82[ASN][1000 genomes]
rs7709622	0.93[ASN][1000 genomes]
rs7716940	0.82[ASN][1000 genomes]
rs7718436	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7718917	0.84[ASN][1000 genomes]
rs7727982	0.94[ASN][1000 genomes]
rs7731648	0.90[ASN][1000 genomes]
rs7735608	1.00[ASN][1000 genomes]
rs7736180	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7737548	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9326765	0.87[ASN][1000 genomes]
rs983099	0.94[ASN][1000 genomes]
rs9968607	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv599338	chr5:108528729-108675737	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv4955	chr5:108577946-108611852	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv508375	chr5:108587628-108624046	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3332538	chr5:108594303-108598101	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3517121	chr5:108594424-108601961	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv2602056	chr5:108594448-108601760	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv436457	chr5:108594528-108601175	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv513255	chr5:108594592-108601231	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
10	esv3439877	chr5:108594650-108601488	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv6506	chr5:108594801-108601334	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
12	esv2305572	chr5:108594898-108601324	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
13	esv3469702	chr5:108594955-108601229	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
14	esv3517124	chr5:108594972-108601221	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
15	esv3517119	chr5:108594981-108601235	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
16	esv3517117	chr5:108595005-108601161	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
17	esv3469703	chr5:108595011-108601195	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
18	esv3469705	chr5:108595017-108601200	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
19	esv3517120	chr5:108595018-108601173	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
20	esv3469706	chr5:108595025-108601149	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
21	esv3517122	chr5:108595033-108601174	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108586000-108606000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:108594200-108601600	Weak transcription	Pancreas	Pancrea

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