Variant report

Variant	rs6050257
Chromosome Location	chr20:25010326-25010327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12480685	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41308619	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45509096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050262	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050266	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr20:24986200-25012400	Strong transcription	Dnd41	blood
2	chr20:24986400-25012400	Weak transcription	Fetal Brain Male	brain
3	chr20:24988200-25016400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr20:24993800-25013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:24994000-25013000	Weak transcription	Small Intestine	intestine
6	chr20:24994800-25013200	Weak transcription	Fetal Brain Female	brain
7	chr20:24995800-25016400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr20:24997200-25016000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr20:24997400-25016400	Weak transcription	GM12878-XiMat	blood
10	chr20:24998600-25011400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:24998600-25016600	Weak transcription	Liver	Liver
12	chr20:24999800-25016400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr20:25002000-25011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:25002000-25013800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr20:25002200-25011000	Weak transcription	Brain Germinal Matrix	brain
16	chr20:25002400-25010600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr20:25003800-25010800	Weak transcription	Aorta	Aorta
18	chr20:25003800-25012600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:25004000-25010600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr20:25004000-25012200	Weak transcription	Fetal Heart	heart
21	chr20:25004000-25012600	Weak transcription	Colonic Mucosa	Colon
22	chr20:25004600-25013000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:25004600-25013000	Weak transcription	Fetal Thymus	thymus
24	chr20:25004800-25010800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr20:25004800-25011000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr20:25004800-25016600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr20:25005000-25010800	Weak transcription	Esophagus	oesophagus
28	chr20:25005000-25011200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:25005000-25012400	Weak transcription	Stomach Mucosa	stomach
30	chr20:25005000-25012600	Weak transcription	Adipose Nuclei	Adipose
31	chr20:25005200-25010400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:25005200-25011600	Strong transcription	Fetal Intestine Large	intestine
33	chr20:25005600-25010600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr20:25006200-25010400	Enhancers	Brain Substantia Nigra	brain
35	chr20:25006400-25012400	Weak transcription	Ovary	ovary
36	chr20:25006800-25011400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr20:25007200-25010600	Weak transcription	Gastric	stomach
38	chr20:25007200-25010800	Weak transcription	Lung	lung
39	chr20:25007200-25010800	Weak transcription	Spleen	Spleen
40	chr20:25007200-25012200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr20:25007600-25010600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr20:25007600-25010800	Weak transcription	Thymus	Thymus
43	chr20:25007600-25011000	Weak transcription	Psoas Muscle	Psoas
44	chr20:25007600-25012600	Weak transcription	Right Atrium	heart
45	chr20:25007600-25014000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr20:25007800-25010400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr20:25007800-25010600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr20:25007800-25010600	Weak transcription	Fetal Muscle Leg	muscle
49	chr20:25007800-25010600	Weak transcription	Fetal Stomach	stomach
50	chr20:25007800-25010600	Weak transcription	Left Ventricle	heart

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