Variant report

Variant	rs6594571
Chromosome Location	chr5:111509561-111509562
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10037824	1.00[ASN][1000 genomes]
rs10040749	1.00[ASN][1000 genomes]
rs10043186	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10054560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054610	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10065740	1.00[ASN][1000 genomes]
rs10068493	1.00[ASN][1000 genomes]
rs10069011	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070995	1.00[ASN][1000 genomes]
rs1020951	1.00[ASN][1000 genomes]
rs10463433	1.00[ASN][1000 genomes]
rs10477478	1.00[ASN][1000 genomes]
rs10478073	1.00[ASN][1000 genomes]
rs1054724	1.00[ASN][1000 genomes]
rs1078128	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241153	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12186685	1.00[ASN][1000 genomes]
rs12187589	1.00[ASN][1000 genomes]
rs12188700	1.00[ASN][1000 genomes]
rs12189034	1.00[ASN][1000 genomes]
rs12655385	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13153601	1.00[ASN][1000 genomes]
rs13165611	0.83[EUR][1000 genomes]
rs1366144	1.00[ASN][1000 genomes]
rs1427978	1.00[ASN][1000 genomes]
rs1560052	1.00[ASN][1000 genomes]
rs1560053	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560054	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560057	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560058	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560061	1.00[ASN][1000 genomes]
rs17134319	1.00[ASN][1000 genomes]
rs17134348	1.00[ASN][1000 genomes]
rs17343994	1.00[ASN][1000 genomes]
rs1863960	0.83[EUR][1000 genomes]
rs1896620	1.00[ASN][1000 genomes]
rs1896621	1.00[ASN][1000 genomes]
rs1975015	1.00[ASN][1000 genomes]
rs1981954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2114991	1.00[ASN][1000 genomes]
rs2416277	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs27413	1.00[ASN][1000 genomes]
rs4602685	1.00[ASN][1000 genomes]
rs4957632	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957634	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957636	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958004	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958007	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4958008	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4958009	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958010	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958012	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958013	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958014	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958015	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4958020	1.00[ASN][1000 genomes]
rs4958025	1.00[ASN][1000 genomes]
rs55639430	1.00[ASN][1000 genomes]
rs55796748	1.00[ASN][1000 genomes]
rs55829200	1.00[ASN][1000 genomes]
rs55913426	1.00[ASN][1000 genomes]
rs56108405	1.00[ASN][1000 genomes]
rs56288086	1.00[ASN][1000 genomes]
rs56293447	1.00[ASN][1000 genomes]
rs56307310	1.00[ASN][1000 genomes]
rs56881711	1.00[ASN][1000 genomes]
rs57428532	1.00[ASN][1000 genomes]
rs59537089	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60636568	1.00[ASN][1000 genomes]
rs61061658	1.00[ASN][1000 genomes]
rs62367266	1.00[ASN][1000 genomes]
rs62372421	1.00[ASN][1000 genomes]
rs6594566	1.00[ASN][1000 genomes]
rs6594567	1.00[ASN][1000 genomes]
rs6594569	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594570	0.83[EUR][1000 genomes]
rs6594574	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594577	1.00[ASN][1000 genomes]
rs6594588	1.00[ASN][1000 genomes]
rs66521031	1.00[ASN][1000 genomes]
rs66892745	1.00[ASN][1000 genomes]
rs67033649	1.00[ASN][1000 genomes]
rs67586008	1.00[ASN][1000 genomes]
rs67631852	1.00[ASN][1000 genomes]
rs6863063	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872947	1.00[ASN][1000 genomes]
rs6876893	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878423	1.00[ASN][1000 genomes]
rs6884589	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893877	1.00[ASN][1000 genomes]
rs6894036	1.00[ASN][1000 genomes]
rs72781655	1.00[ASN][1000 genomes]
rs72781664	1.00[ASN][1000 genomes]
rs72781668	1.00[ASN][1000 genomes]
rs72781677	1.00[ASN][1000 genomes]
rs72781678	1.00[ASN][1000 genomes]
rs7703522	1.00[ASN][1000 genomes]
rs7704087	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706160	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709484	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710973	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711158	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716309	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717160	1.00[ASN][1000 genomes]
rs7717363	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719346	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7722291	1.00[ASN][1000 genomes]
rs821736	1.00[ASN][1000 genomes]
rs821749	1.00[ASN][1000 genomes]
rs890757	1.00[ASN][1000 genomes]
rs890758	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv519077	chr5:111506751-111519018	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111497600-111538600	Weak transcription	Small Intestine	intestine
2	chr5:111498200-111518800	Weak transcription	Right Atrium	heart
3	chr5:111499600-111510800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:111499800-111510600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:111500000-111510600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:111500200-111510600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:111500400-111510600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:111500800-111510600	Weak transcription	NHEK	skin
9	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
10	chr5:111502200-111510600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:111502200-111510600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:111502200-111510600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:111502200-111511000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:111502400-111510600	Weak transcription	Fetal Heart	heart
15	chr5:111502400-111510600	Weak transcription	K562	blood
16	chr5:111502400-111510600	Weak transcription	NH-A	brain
17	chr5:111502400-111518800	Weak transcription	Pancreas	Pancrea
18	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
19	chr5:111502600-111509600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:111502600-111510600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:111502600-111510600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:111502600-111510600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:111502600-111510600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:111502600-111510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:111502600-111510600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:111502800-111509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:111502800-111510600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:111502800-111546000	Weak transcription	Ovary	ovary
29	chr5:111503000-111510400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:111503000-111510600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:111503600-111510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:111503600-111510600	Weak transcription	Brain Angular Gyrus	brain
33	chr5:111503600-111510600	Weak transcription	Fetal Intestine Small	intestine
34	chr5:111503600-111510600	Weak transcription	Dnd41	blood
35	chr5:111503600-111519000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:111503600-111527800	Weak transcription	Psoas Muscle	Psoas
37	chr5:111503600-111537400	Weak transcription	Lung	lung
38	chr5:111503800-111510600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:111503800-111510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:111503800-111510600	Weak transcription	GM12878-XiMat	blood
41	chr5:111503800-111510600	Weak transcription	Osteobl	bone
42	chr5:111504000-111509800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:111504000-111510200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:111504000-111510600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:111504000-111510600	Weak transcription	NHDF-Ad	bronchial
46	chr5:111504000-111510800	Weak transcription	Fetal Stomach	stomach
47	chr5:111504000-111513400	Weak transcription	Hela-S3	cervix
48	chr5:111504200-111510200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:111504400-111510600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:111504400-111517800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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