Variant report

Variant	rs6050936
Chromosome Location	chr20:25834073-25834074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11696651	0.86[ASN][1000 genomes]
rs2096281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs2275800	0.86[ASN][1000 genomes]
rs2386786	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3949256	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6050930	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6138686	0.82[ASN][1000 genomes]
rs6138728	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7272868	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758517	chr20:25701992-26319569	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
2	esv2758790	chr20:25701992-26319569	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv470545	chr20:25715507-26309255	Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv979422	chr20:25732656-25867609	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv990797	chr20:25761510-25837259	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv10664	chr20:25767042-25849064	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv585749	chr20:25767347-25856929	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv585752	chr20:25786189-25864851	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv585753	chr20:25786189-25892571	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv585754	chr20:25786301-25864851	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv585755	chr20:25786301-25871801	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv585756	chr20:25786301-25948094	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv585757	chr20:25786301-25948327	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv585758	chr20:25786984-25951658	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv585759	chr20:25787096-25948327	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv3496004	chr20:25829408-25838116	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3496005	chr20:25829408-25838116	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1059041	chr20:25832105-26007269	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1060065	chr20:25832105-26305567	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
20	nsv9795	chr20:25832369-25851689	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6050936	PYGB	cis	Whole Blood	GTEx
rs6050936	FAM182B	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25829400-25834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:25829400-25836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:25832800-25834200	Enhancers	Fetal Brain Male	brain
4	chr20:25833200-25835400	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr20:25833400-25835000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr20:25833400-25835200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr20:25833600-25834200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr20:25833600-25834200	Enhancers	Fetal Heart	heart
9	chr20:25833600-25834200	Flanking Active TSS	Lung	lung
10	chr20:25833600-25834400	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr20:25833600-25835000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:25833600-25835200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:25833600-25835200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr20:25833600-25835200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr20:25833600-25835200	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr20:25833600-25835200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:25833600-25835200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:25833600-25835200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr20:25833600-25835200	Active TSS	Brain Angular Gyrus	brain
20	chr20:25833600-25835200	Active TSS	Brain Anterior Caudate	brain
21	chr20:25833600-25835200	Active TSS	Brain Cingulate Gyrus	brain
22	chr20:25833600-25835200	Active TSS	Brain Germinal Matrix	brain
23	chr20:25833600-25835200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr20:25833600-25835200	Active TSS	Colon Smooth Muscle	Colon
25	chr20:25833600-25835200	Active TSS	Fetal Kidney	kidney
26	chr20:25833600-25835200	Active TSS	Fetal Lung	lung
27	chr20:25833600-25835200	Active TSS	Ovary	ovary
28	chr20:25833600-25835200	Active TSS	Psoas Muscle	Psoas
29	chr20:25833600-25835200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr20:25833600-25835200	Active TSS	Right Atrium	heart
31	chr20:25833600-25835200	Active TSS	NHDF-Ad	bronchial
32	chr20:25833600-25835200	Active TSS	NHEK	skin
33	chr20:25833600-25835400	Active TSS	Fetal Brain Female	brain
34	chr20:25833600-25835400	Active TSS	Rectal Smooth Muscle	rectum
35	chr20:25833600-25835400	Active TSS	A549	lung
36	chr20:25833600-25835400	Active TSS	Osteobl	bone
37	chr20:25833600-25835600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr20:25833800-25834200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:25833800-25834200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr20:25833800-25834200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr20:25833800-25834200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr20:25833800-25834200	Enhancers	Liver	Liver
43	chr20:25833800-25834200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr20:25833800-25834400	Enhancers	Primary B cells from peripheral blood	blood
45	chr20:25833800-25834600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
46	chr20:25833800-25834600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr20:25833800-25834800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:25833800-25835000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr20:25833800-25835000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr20:25833800-25835000	Active TSS	Colonic Mucosa	Colon

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