Variant report

Variant	rs2082472
Chromosome Location	chr19:23731649-23731650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10404666	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10404713	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10407300	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10414987	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10422879	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1111577	0.87[ASN][1000 genomes]
rs12459046	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12459435	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12460521	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12460990	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12461367	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12462115	0.85[ASN][1000 genomes]
rs12462246	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12462318	0.89[ASN][1000 genomes]
rs12462767	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12462785	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12462889	0.89[ASN][1000 genomes]
rs17000239	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1961091	0.86[ASN][1000 genomes]
rs2082471	0.89[ASN][1000 genomes]
rs2116910	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2116911	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2195960	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2195961	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2195962	0.89[ASN][1000 genomes]
rs2217662	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28561078	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28784951	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28801777	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2886003	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35329492	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4932863	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4932864	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4932865	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4932867	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4932868	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55979338	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59390831	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59885226	0.91[EUR][1000 genomes]
rs62123400	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123401	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123403	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62123405	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62123408	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62123411	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62123412	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62123413	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62123414	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62123415	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62123416	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511445	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7249863	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8100508	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8100711	0.94[EUR][1000 genomes]
rs8101304	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8106780	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8109004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758491	chr19:23071299-23940467	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
2	nsv1065157	chr19:23091826-23812323	Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv543959	chr19:23091826-23812323	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv3334120	chr19:23545829-23837686	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1064929	chr19:23559483-23827735	Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1057474	chr19:23563612-23812441	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv543962	chr19:23563612-23812441	ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3334156	chr19:23590778-23742435	Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1057958	chr19:23596756-24159379	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv543963	chr19:23596756-24159379	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv931052	chr19:23610462-24133074	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
12	nsv1063705	chr19:23611683-24144829	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv579047	chr19:23620632-24069443	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv1058624	chr19:23620762-24071522	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv543964	chr19:23620762-24071522	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1059279	chr19:23620873-24071154	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv949038	chr19:23621540-24059150	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
18	nsv1061876	chr19:23621540-24071154	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv529080	chr19:23624528-24311535	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
20	nsv1057985	chr19:23624727-24133075	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
21	nsv543965	chr19:23624727-24133075	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
22	nsv817490	chr19:23624728-24061026	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
23	nsv530395	chr19:23624728-24133074	ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
24	nsv917077	chr19:23624807-23868394	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv497922	chr19:23624807-24043127	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv1063538	chr19:23671507-24561180	Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
27	nsv579048	chr19:23671926-24060980	Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv579049	chr19:23671926-24061144	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv1056409	chr19:23677992-23971667	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	esv2757691	chr19:23683097-23743106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv1064718	chr19:23683950-23760511	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
32	nsv960945	chr19:23692705-23750497	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
33	nsv911465	chr19:23696257-23901285	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
34	nsv523603	chr19:23703702-23804041	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
35	nsv579050	chr19:23708666-24071154	Weak transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
36	nsv911466	chr19:23713466-23983297	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
37	nsv911467	chr19:23714441-23793270	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
38	nsv1062302	chr19:23721174-23743106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
39	nsv1066748	chr19:23721174-23746727	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
40	nsv1060003	chr19:23722908-23739826	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases
41	nsv911468	chr19:23723161-23819366	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
42	nsv911469	chr19:23723161-23821789	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region lncRNA	8 gene(s)	inside rSNPs	diseases
43	nsv1065058	chr19:23724151-24503722	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
44	nsv1060221	chr19:23726650-23746727	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23730400-23732000	Enhancers	NHEK	skin
2	chr19:23730600-23734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:23731000-23733800	Enhancers	HMEC	breast
4	chr19:23731200-23733000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:23731400-23733800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr19:23731600-23732600	Enhancers	Hela-S3	cervix
7	chr19:23731600-23733800	Enhancers	Placenta	Placenta
8	chr19:23731600-23734400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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