Variant report

Variant	rs2619830
Chromosome Location	chr5:5523403-5523404
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11746392	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13174713	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17479	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2246106	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2246112	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2264076	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2438486	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2438487	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2438489	0.95[EUR][1000 genomes]
rs2441069	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2441070	0.91[EUR][1000 genomes]
rs2448438	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs252928	0.85[ASN][1000 genomes]
rs252929	0.89[ASN][1000 genomes]
rs252930	0.89[ASN][1000 genomes]
rs252934	0.82[ASN][1000 genomes]
rs252935	0.86[ASN][1000 genomes]
rs2578517	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2578518	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578520	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2578521	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578522	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578523	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2578524	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2578525	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2578526	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2578528	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2578529	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2578531	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2578532	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2578533	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2578534	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2578535	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2578560	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2578561	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2591697	0.91[ASN][1000 genomes]
rs2591699	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2591700	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2591701	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2591702	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2591703	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2591704	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2591705	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2591706	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2591707	0.82[ASN][1000 genomes]
rs2591708	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619829	0.91[ASN][1000 genomes]
rs2619831	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619832	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619833	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619834	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2619835	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2619836	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2619837	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2619838	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2619839	0.81[EUR][1000 genomes]
rs2619840	0.89[EUR][1000 genomes]
rs2619842	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2619845	0.81[EUR][1000 genomes]
rs2619855	0.82[ASN][1000 genomes]
rs2652702	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652703	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652704	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652706	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2652708	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2652709	0.89[EUR][1000 genomes]
rs2652710	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2652715	0.90[ASN][1000 genomes]
rs2652716	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2652718	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2652722	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2652724	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2652725	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2652726	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652727	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2918251	0.90[ASN][1000 genomes]
rs2921570	0.81[EUR][1000 genomes]
rs2921571	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2928223	0.87[ASN][1000 genomes]
rs2928225	0.82[ASN][1000 genomes]
rs2928237	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2928238	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2928239	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2928240	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2937807	0.80[EUR][1000 genomes]
rs2937808	0.82[EUR][1000 genomes]
rs2937810	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2937811	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2937813	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2937814	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3098376	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs719080	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv596941	chr5:5511990-5636458	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv596942	chr5:5511990-5722063	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5521000-5524000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr5:5521200-5523600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:5521400-5523800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:5521400-5539200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:5521600-5524000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:5522400-5524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:5523200-5523600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:5523200-5523600	Enhancers	Dnd41	blood
9	chr5:5523200-5524400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:5523400-5523600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:5523400-5523600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr5:5523400-5523600	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr5:5523400-5523600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:5523400-5523600	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:5523400-5523600	Enhancers	Liver	Liver
16	chr5:5523400-5523800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:5523400-5523800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:5523400-5523800	Active TSS	Duodenum Mucosa	Duodenum
19	chr5:5523400-5523800	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:5523400-5524000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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