Variant report

Variant	rs4813558
Chromosome Location	chr20:25302372-25302373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12479688	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs16987764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.83[ASN][1000 genomes]
rs2387736	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4815377	1.00[CHB][hapmap]
rs4815384	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs4815390	1.00[CHB][hapmap]
rs6107022	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6107032	0.89[ASW][hapmap]
rs6115048	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs6115089	1.00[CHB][hapmap];0.92[GIH][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs6115147	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs61672495	1.00[ASN][1000 genomes]
rs6515592	1.00[CHB][hapmap]
rs721866	1.00[CHB][hapmap];0.84[YRI][hapmap]
rs7267149	1.00[CHB][hapmap]
rs8114930	1.00[CHB][hapmap];0.80[YRI][hapmap]
rs8115729	1.00[CHB][hapmap];0.85[YRI][hapmap]
rs9808606	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS 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	20 gene(s)	inside rSNPs	diseases
16	esv1798601	chr20:25250122-25305949	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25278800-25305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:25284600-25304000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:25289200-25304600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr20:25289400-25302400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
8	chr20:25292200-25303600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:25292200-25303800	Weak transcription	HUVEC	blood vessel
10	chr20:25292200-25305600	Weak transcription	Hela-S3	cervix
11	chr20:25292200-25309600	Weak transcription	Psoas Muscle	Psoas
12	chr20:25292200-25316600	Weak transcription	NHEK	skin
13	chr20:25292400-25302400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr20:25292400-25303600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr20:25292400-25308400	Weak transcription	HSMMtube	muscle
16	chr20:25292400-25308600	Weak transcription	HSMM	muscle
17	chr20:25292400-25311200	Weak transcription	K562	blood
18	chr20:25292400-25325200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr20:25292600-25309000	Weak transcription	Colon Smooth Muscle	Colon
20	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
21	chr20:25294000-25304200	Strong transcription	Fetal Intestine Large	intestine
22	chr20:25294400-25306400	Strong transcription	Dnd41	blood
23	chr20:25295600-25304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr20:25296400-25306000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr20:25296600-25310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr20:25296800-25302400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:25296800-25303800	Weak transcription	Osteobl	bone
28	chr20:25296800-25305400	Weak transcription	HMEC	breast
29	chr20:25296800-25308200	Weak transcription	NH-A	brain
30	chr20:25296800-25308800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr20:25296800-25316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr20:25297800-25302800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr20:25297800-25317800	Weak transcription	Fetal Brain Female	brain
34	chr20:25298000-25302400	Enhancers	Fetal Heart	heart
35	chr20:25298000-25304400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr20:25298000-25304400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr20:25298000-25306000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr20:25298200-25303800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr20:25298400-25302800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr20:25298400-25304200	Weak transcription	Colonic Mucosa	Colon
41	chr20:25299400-25304800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr20:25299600-25304000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr20:25299600-25304200	Strong transcription	HepG2	liver
44	chr20:25299600-25304400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr20:25299600-25304600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr20:25299600-25305000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr20:25299800-25302800	Enhancers	Brain Angular Gyrus	brain
48	chr20:25299800-25306400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:25300000-25303000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr20:25300000-25304800	Strong transcription	Stomach Smooth Muscle	stomach

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