Variant report

Variant	rs73101756
Chromosome Location	chr20:25239551-25239552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25232688..25236951-chr20:25237254..25241133,6	K562	blood:
2	chr20:25183731..25186136-chr20:25238166..25239977,2	MCF-7	breast:
3	chr20:25233973..25236951-chr20:25237621..25241133,4	K562	blood:
4	chr20:25175397..25177963-chr20:25237713..25239938,2	MCF-7	breast:
5	chr20:25237526..25240142-chr20:25247989..25249808,2	K562	blood:

Variant related genes	Relation type
ENSG00000197586	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56129418	0.81[AMR][1000 genomes]
rs73101777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73103606	0.85[AFR][1000 genomes];0.92[EUR][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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73101756	ENTPD6	cis	Thyroid	GTEx
rs73101756	NANP	cis	lung	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25229800-25250000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:25230200-25239600	Enhancers	Stomach Mucosa	stomach
3	chr20:25230200-25239800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr20:25230200-25240400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr20:25230200-25240400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr20:25230400-25239800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr20:25230400-25239800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:25230400-25291600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr20:25230600-25239800	Weak transcription	Fetal Lung	lung
10	chr20:25231000-25239800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr20:25231000-25240400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr20:25231200-25251800	Weak transcription	Hela-S3	cervix
13	chr20:25231200-25252200	Weak transcription	HUVEC	blood vessel
14	chr20:25231400-25240000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr20:25231400-25240800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr20:25231400-25249800	Weak transcription	Small Intestine	intestine
17	chr20:25232600-25240000	Weak transcription	Thymus	Thymus
18	chr20:25233200-25252200	Weak transcription	Fetal Brain Male	brain
19	chr20:25234000-25240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr20:25234000-25240200	Weak transcription	HSMM	muscle
21	chr20:25234600-25242400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr20:25235000-25239600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr20:25235000-25243000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:25235600-25239800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr20:25235600-25291200	Weak transcription	Fetal Kidney	kidney
26	chr20:25235800-25240000	Weak transcription	Fetal Brain Female	brain
27	chr20:25236000-25239800	Weak transcription	NH-A	brain
28	chr20:25236000-25242200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:25236200-25239600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr20:25236200-25239600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr20:25236200-25239600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr20:25236200-25239600	Enhancers	Colon Smooth Muscle	Colon
33	chr20:25236200-25240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr20:25236200-25241600	Genic enhancers	Rectal Mucosa Donor 31	rectum
35	chr20:25236200-25243000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr20:25236200-25251600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr20:25236400-25240200	Weak transcription	HSMMtube	muscle
38	chr20:25236400-25241000	Strong transcription	NHEK	skin
39	chr20:25236600-25253800	Weak transcription	Psoas Muscle	Psoas
40	chr20:25236800-25242000	Strong transcription	A549	lung
41	chr20:25237200-25239600	Enhancers	Left Ventricle	heart
42	chr20:25237200-25241200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr20:25237400-25239600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr20:25237400-25241400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr20:25237600-25240000	Weak transcription	Ovary	ovary
46	chr20:25237600-25242800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr20:25237600-25243000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr20:25237600-25243000	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr20:25237600-25249800	Weak transcription	NHDF-Ad	bronchial
50	chr20:25237600-25262800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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