Variant report

Variant	rs6050943
Chromosome Location	chr20:25842326-25842327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

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	USF1	chr20:25841972-25842411	HepG2	liver:	n/a	n/a
7	PAX5	chr20:25842123-25842381	GM12878	blood:	n/a	n/a
8	RAD21	chr20:25842277-25842508	IMR90	lung:	n/a	n/a
9	UBTF	chr20:25842252-25842455	K562	blood:	n/a	n/a
10	CTCF	chr20:25842207-25842507	K562	blood:	n/a	n/a
11	SIX5	chr20:25842153-25842364	K562	blood:	n/a	n/a
12	CTCF	chr20:25842278-25842456	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr20:25842281-25842478	GM10266	blood:	n/a	n/a
14	YY1	chr20:25842321-25842451	K562	blood:	n/a	n/a
15	CTCF	chr20:25842270-25842396	GM19239	blood:	n/a	n/a
16	SP1	chr20:25841979-25842546	GM12878	blood:	n/a	n/a
17	CTCF	chr20:25842258-25842501	LNCaP	prostate:	n/a	n/a
18	CTCF	chr20:25842281-25842466	GM12891	blood:	n/a	n/a
19	FOSL2	chr20:25841795-25844457	HepG2	liver:	n/a	n/a
20	CTCF	chr20:25842290-25842469	GM19240	blood:	n/a	n/a
21	SIN3AK20	chr20:25842138-25842463	HepG2	liver:	n/a	n/a
22	CTCF	chr20:25842266-25842494	LNCaP	prostate:	n/a	n/a
23	PAX5	chr20:25842211-25842469	GM12892	blood:	n/a	n/a
24	RAD21	chr20:25842325-25842484	K562	blood:	n/a	n/a
25	MYC	chr20:25842286-25842486	K562	blood:	n/a	n/a
26	JUND	chr20:25842274-25842449	K562	blood:	n/a	n/a
27	CTCF	chr20:25842284-25842470	T-47D	breast:	n/a	n/a
28	TBP	chr20:25842305-25842449	K562	blood:	n/a	n/a
29	JUND	chr20:25841919-25842566	HepG2	liver:	n/a	n/a
30	FOXP2	chr20:25842205-25842422	PFSK-1	brain:	n/a	n/a
31	PAX5	chr20:25841918-25842439	GM12878	blood:	n/a	n/a
32	RAD21	chr20:25842278-25842484	HepG2	liver:	n/a	n/a
33	HEY1	chr20:25841951-25842596	K562	blood:	n/a	n/a
34	NRF1	chr20:25842146-25842476	H1-hESC	embryonic stem cell:	n/a	chr20:25842307-25842318
35	IRF4	chr20:25841764-25842335	GM12878	blood:	n/a	n/a
36	MAX	chr20:25842126-25842707	K562	blood:	n/a	n/a
37	E2F6	chr20:25842241-25842501	K562	blood:	n/a	n/a
38	RAD21	chr20:25842252-25842469	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr20:25841953-25842374	GM12878	blood:	n/a	n/a
40	HCFC1	chr20:25842269-25842337	K562	blood:	n/a	n/a
41	MAX	chr20:25842173-25842527	K562	blood:	n/a	n/a
42	POLR2A	chr20:25842071-25842508	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr20:25842266-25842508	A549	lung:	n/a	n/a
44	TCF12	chr20:25842164-25842336	GM12878	blood:	n/a	n/a
45	CTCF	chr20:25842272-25842488	GM12892	blood:	n/a	n/a
46	CTCF	chr20:25842292-25842446	MCF-7	breast:	n/a	n/a
47	CTCF	chr20:25842269-25842477	K562	blood:	n/a	n/a
48	CTCF	chr20:25842300-25842448	SK-N-SH_RA	brain:	n/a	n/a
49	ZNF143	chr20:25842288-25842404	GM12878	blood:	n/a	n/a
50	HEY1	chr20:25842143-25842496	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34122971	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34249314	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35189947	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35822564	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6050940	0.84[ASN][1000 genomes]
rs6050944	0.85[ASN][1000 genomes]
rs6050945	0.88[ASN][1000 genomes]
rs61117562	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6115344	0.87[ASN][1000 genomes]
rs6138689	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6138691	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67051989	0.82[AMR][1000 genomes];0.86[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6050943	FAM182B	cis	Skin Sun Exposed Lower leg	GTEx
rs6050943	PYGB	cis	Whole Blood	GTEx

Chromatin state (count:121 , 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	chr20:25841800-25842400	Active TSS	A549	lung
16	chr20:25841800-25842600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr20:25841800-25842600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr20:25841800-25842600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr20:25841800-25842600	Active TSS	HSMM	muscle
20	chr20:25841800-25842600	Active TSS	HSMMtube	muscle
21	chr20:25841800-25842800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr20:25841800-25842800	Active TSS	Fetal Brain Female	brain
23	chr20:25841800-25843000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr20:25841800-25843000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr20:25841800-25843000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr20:25841800-25843000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:25841800-25843000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr20:25841800-25843600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr20:25841800-25843800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr20:25841800-25844000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr20:25841800-25844600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr20:25841800-25847200	Enhancers	Spleen	Spleen
33	chr20:25842000-25842400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr20:25842000-25842400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr20:25842000-25842400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr20:25842000-25842400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr20:25842000-25842400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr20:25842000-25842400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr20:25842000-25842400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr20:25842000-25842400	Active TSS	Lung	lung
46	chr20:25842000-25842400	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
47	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
48	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
49	chr20:25842000-25842400	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr20:25842000-25842400	Bivalent/Poised TSS	NHDF-Ad	bronchial

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