Variant report

Variant	rs6050945
Chromosome Location	chr20:25842456-25842457
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:25842272-25842468	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr20:25842005-25842807	SK-N-SH	brain:	n/a	n/a
3	ELF1	chr20:25842286-25842481	K562	blood:	n/a	n/a
4	MAX	chr20:25842227-25842908	A549	lung:	n/a	n/a
5	RUNX3	chr20:25842144-25842483	GM12878	blood:	n/a	n/a
6	RAD21	chr20:25842277-25842508	IMR90	lung:	n/a	n/a
7	CTCF	chr20:25842207-25842507	K562	blood:	n/a	n/a
8	CTCF	chr20:25842278-25842456	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr20:25842281-25842478	GM10266	blood:	n/a	n/a
10	SP1	chr20:25841979-25842546	GM12878	blood:	n/a	n/a
11	CTCF	chr20:25842258-25842501	LNCaP	prostate:	n/a	n/a
12	CTCF	chr20:25842281-25842466	GM12891	blood:	n/a	n/a
13	FOSL2	chr20:25841795-25844457	HepG2	liver:	n/a	n/a
14	CTCF	chr20:25842290-25842469	GM19240	blood:	n/a	n/a
15	SIN3AK20	chr20:25842138-25842463	HepG2	liver:	n/a	n/a
16	CTCF	chr20:25842266-25842494	LNCaP	prostate:	n/a	n/a
17	PAX5	chr20:25842211-25842469	GM12892	blood:	n/a	n/a
18	RAD21	chr20:25842325-25842484	K562	blood:	n/a	n/a
19	MYC	chr20:25842286-25842486	K562	blood:	n/a	n/a
20	CTCF	chr20:25842284-25842470	T-47D	breast:	n/a	n/a
21	JUND	chr20:25841919-25842566	HepG2	liver:	n/a	n/a
22	RAD21	chr20:25842278-25842484	HepG2	liver:	n/a	n/a
23	HEY1	chr20:25841951-25842596	K562	blood:	n/a	n/a
24	NRF1	chr20:25842146-25842476	H1-hESC	embryonic stem cell:	n/a	chr20:25842307-25842318
25	MAX	chr20:25842126-25842707	K562	blood:	n/a	n/a
26	E2F6	chr20:25842241-25842501	K562	blood:	n/a	n/a
27	RAD21	chr20:25842252-25842469	Hela-S3	cervix:	n/a	n/a
28	MAX	chr20:25842173-25842527	K562	blood:	n/a	n/a
29	POLR2A	chr20:25842071-25842508	ECC-1	luminal epithelium:	n/a	n/a
30	CTCF	chr20:25842266-25842508	A549	lung:	n/a	n/a
31	CTCF	chr20:25842272-25842488	GM12892	blood:	n/a	n/a
32	CTCF	chr20:25842269-25842477	K562	blood:	n/a	n/a
33	HEY1	chr20:25842143-25842496	K562	blood:	n/a	n/a
34	CTCF	chr20:25842295-25842465	Gliobla	brain:	n/a	n/a
35	TCF12	chr20:25842154-25842852	A549	lung:	n/a	n/a
36	E2F4	chr20:25842210-25842487	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr20:25842327-25842523	GM12878	blood:	n/a	n/a
38	POLR2A	chr20:25842227-25842557	PANC-1	pancreas:	n/a	n/a
39	NRF1	chr20:25841916-25842649	SK-N-SH	brain:	n/a	chr20:25842307-25842318
40	CTCF	chr20:25842294-25842478	Lung_OC	lung:	n/a	n/a
41	CTCF	chr20:25842205-25842506	HepG2	liver:	n/a	n/a
42	PAX5	chr20:25841904-25842540	GM12878	blood:	n/a	n/a
43	RCOR1	chr20:25841962-25842474	K562	blood:	n/a	n/a
44	HA-E2F1	chr20:25842124-25842680	MCF-7	breast:	n/a	n/a
45	NRF1	chr20:25842119-25842480	GM12878	blood:	n/a	chr20:25842307-25842318
46	CTCF	chr20:25842289-25842470	Medullo	brain:	n/a	n/a
47	CTCF	chr20:25842177-25842551	K562	blood:	n/a	n/a
48	MYC	chr20:25842265-25842574	MCF10A-Er-Src	breast:	n/a	n/a
49	SP1	chr20:25842064-25842567	A549	lung:	n/a	n/a
50	POLR2A	chr20:25842269-25842508	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1936189	0.82[EUR][1000 genomes]
rs2096281	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34122971	0.86[ASN][1000 genomes]
rs34249314	0.94[ASN][1000 genomes]
rs35822564	0.86[ASN][1000 genomes]
rs3949256	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6050940	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050943	0.88[ASN][1000 genomes]
rs6050944	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6115344	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6138689	0.82[ASN][1000 genomes]
rs6138691	0.86[ASN][1000 genomes]
rs6138692	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv979451	chr20:25836169-25856112	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3502991	chr20:25837879-25847973	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3502992	chr20:25837879-25847973	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3429566	chr20:25838143-25848095	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3354468	chr20:25841566-25843106	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6050945	FAM182B	cis	Skin Sun Exposed Lower leg	GTEx
rs6050945	PYGB	cis	Whole Blood	GTEx
rs6050945	FAM182B	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25839400-25842600	Enhancers	Fetal Heart	heart
2	chr20:25840000-25845000	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr20:25840400-25842800	Enhancers	Gastric	stomach
4	chr20:25840400-25844400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr20:25840400-25844400	Active TSS	Brain Angular Gyrus	brain
6	chr20:25840400-25844800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr20:25841200-25842600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr20:25841200-25842600	Active TSS	Right Ventricle	heart
9	chr20:25841200-25842800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr20:25841400-25842600	Active TSS	Brain Anterior Caudate	brain
11	chr20:25841600-25842600	Active TSS	Brain Cingulate Gyrus	brain
12	chr20:25841600-25842600	Active TSS	Brain Germinal Matrix	brain
13	chr20:25841600-25844800	Active TSS	Hela-S3	cervix
14	chr20:25841600-25845000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr20:25841800-25842600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:25841800-25842600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr20:25841800-25842600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
18	chr20:25841800-25842600	Active TSS	HSMM	muscle
19	chr20:25841800-25842600	Active TSS	HSMMtube	muscle
20	chr20:25841800-25842800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr20:25841800-25842800	Active TSS	Fetal Brain Female	brain
22	chr20:25841800-25843000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr20:25841800-25843000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr20:25841800-25843000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr20:25841800-25843000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr20:25841800-25843000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr20:25841800-25843600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr20:25841800-25843800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:25841800-25844000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr20:25841800-25844600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr20:25841800-25847200	Enhancers	Spleen	Spleen
32	chr20:25842000-25842600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr20:25842000-25842600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr20:25842000-25842600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:25842000-25842600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr20:25842000-25842600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr20:25842000-25842600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
38	chr20:25842000-25842600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr20:25842000-25842600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr20:25842000-25842600	Bivalent/Poised TSS	Fetal Lung	lung
41	chr20:25842000-25842600	Flanking Active TSS	Pancreas	Pancrea
42	chr20:25842000-25842600	Active TSS	K562	blood
43	chr20:25842000-25842600	Bivalent/Poised TSS	Osteobl	bone
44	chr20:25842000-25842800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr20:25842000-25842800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr20:25842000-25842800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr20:25842000-25842800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:25842000-25842800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
49	chr20:25842000-25842800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr20:25842000-25842800	Bivalent/Poised TSS	Fetal Kidney	kidney

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