Variant report

Variant	rs55879612
Chromosome Location	chr20:25198587-25198588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr20:25198153-25198950	HEK293-T-REx	kidney:	n/a	chr20:25198626-25198647 chr20:25198603-25198624
2	POLR2A	chr20:25198194-25199031	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25176590..25179411-chr20:25196913..25199010,2	MCF-7	breast:
2	chr20:25196698..25199076-chr20:25201135..25203929,2	K562	blood:
3	chr20:25197398..25199185-chr20:25202429..25205309,3	K562	blood:

Variant related genes	Relation type
ENTPD6	TF binding region
ENSG00000197586	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs56063344	1.00[AMR][1000 genomes]
rs56343188	1.00[AMR][1000 genomes]
rs56374952	1.00[AMR][1000 genomes]
rs57359365	1.00[AMR][1000 genomes]
rs57509861	1.00[AMR][1000 genomes]
rs58134777	1.00[AMR][1000 genomes]
rs59731128	1.00[ASN][1000 genomes]
rs6037066	1.00[AMR][1000 genomes]
rs6050450	1.00[AMR][1000 genomes]
rs6050467	1.00[AMR][1000 genomes]
rs6050480	1.00[AMR][1000 genomes]
rs61245897	1.00[AMR][1000 genomes]
rs73904004	1.00[AMR][1000 genomes]
rs73904009	1.00[AMR][1000 genomes]
rs73904014	1.00[AMR][1000 genomes]
rs73904015	1.00[AMR][1000 genomes]
rs73904016	1.00[AMR][1000 genomes]
rs73904018	1.00[AMR][1000 genomes]
rs73904030	1.00[AMR][1000 genomes]
rs73904034	1.00[AMR][1000 genomes]
rs73904035	1.00[AMR][1000 genomes]
rs73904040	1.00[AMR][1000 genomes]
rs73904467	1.00[AMR][1000 genomes]
rs73904468	1.00[AMR][1000 genomes]
rs73906090	1.00[AMR][1000 genomes]
rs73907308	1.00[AMR][1000 genomes]
rs73907312	1.00[AMR][1000 genomes]
rs73907315	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	esv2020215	chr20:25198453-25198788	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25178400-25203800	Weak transcription	Small Intestine	intestine
2	chr20:25178400-25203800	Weak transcription	Hela-S3	cervix
3	chr20:25178600-25200400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr20:25178600-25212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr20:25180000-25207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:25181800-25202000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr20:25186400-25203200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr20:25189000-25203000	Weak transcription	K562	blood
9	chr20:25190200-25202800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:25190200-25202800	Strong transcription	Fetal Intestine Small	intestine
11	chr20:25190200-25206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr20:25190400-25199200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:25190400-25199400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr20:25190400-25200000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr20:25190400-25200000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:25190400-25200000	Strong transcription	Lung	lung
17	chr20:25190400-25200200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr20:25190400-25200200	Strong transcription	Fetal Muscle Leg	muscle
19	chr20:25190400-25200200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr20:25190400-25200400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:25190400-25200400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:25190400-25200400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr20:25190400-25200400	Strong transcription	A549	lung
24	chr20:25190400-25200400	Strong transcription	HepG2	liver
25	chr20:25190400-25200600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr20:25190400-25200600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr20:25190400-25200600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr20:25190400-25200800	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr20:25190400-25201000	Strong transcription	HMEC	breast
30	chr20:25190400-25201200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr20:25190400-25201600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:25190400-25201800	Strong transcription	Adipose Nuclei	Adipose
33	chr20:25190400-25202000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr20:25190400-25202200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:25190400-25202200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:25190400-25202200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr20:25190400-25202200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr20:25190400-25202400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr20:25190400-25202400	Strong transcription	Primary T cells from cord blood	blood
40	chr20:25190400-25202400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr20:25190400-25202600	Strong transcription	Spleen	Spleen
42	chr20:25190400-25202800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr20:25190400-25202800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr20:25190400-25202800	Strong transcription	Brain Cingulate Gyrus	brain
45	chr20:25190400-25202800	Strong transcription	Placenta	Placenta
46	chr20:25190400-25203000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr20:25190400-25203000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr20:25190400-25203000	Strong transcription	Fetal Intestine Large	intestine
49	chr20:25190400-25203000	Strong transcription	NHLF	lung
50	chr20:25190400-25203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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