Variant report

Variant	rs6115344
Chromosome Location	chr20:25843660-25843661
allele	C/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	RCOR1	chr20:25843638-25844273	K562	blood:	n/a	n/a
2	BHLHE40	chr20:25843608-25844126	K562	blood:	n/a	n/a
3	MAX	chr20:25843482-25844624	Hela-S3	cervix:	n/a	n/a
4	FOSL2	chr20:25841795-25844457	HepG2	liver:	n/a	n/a
5	CEBPB	chr20:25843604-25843807	K562	blood:	n/a	n/a
6	TCF3	chr20:25843476-25844304	GM12878	blood:	n/a	n/a
7	SPI1	chr20:25843630-25843943	K562	blood:	n/a	n/a
8	PAX5	chr20:25843609-25844096	GM12878	blood:	n/a	n/a
9	HEY1	chr20:25843608-25844460	K562	blood:	n/a	n/a
10	RXRA	chr20:25842730-25844344	HepG2	liver:	n/a	n/a
11	NRF1	chr20:25843471-25844338	SK-N-SH	brain:	n/a	chr20:25843951-25843962 chr20:25843964-25843975
12	IRF4	chr20:25843441-25843967	GM12878	blood:	n/a	n/a
13	PAX5	chr20:25842877-25844432	GM12878	blood:	n/a	n/a
14	USF1	chr20:25843614-25844052	HepG2	liver:	n/a	n/a
15	TCF12	chr20:25843560-25843985	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr20:25843614-25844128	HepG2	liver:	n/a	n/a
17	SIX5	chr20:25843592-25844045	K562	blood:	n/a	n/a
18	JUND	chr20:25843601-25844067	HepG2	liver:	n/a	n/a
19	MYBL2	chr20:25843541-25844247	HepG2	liver:	n/a	n/a
20	SPI1	chr20:25843607-25843999	GM12878	blood:	n/a	n/a
21	POU2F2	chr20:25843499-25844473	GM12878	blood:	n/a	n/a
22	E2F6	chr20:25843614-25844585	K562	blood:	n/a	n/a
23	HEY1	chr20:25843588-25843969	K562	blood:	n/a	n/a
24	ELF1	chr20:25843565-25844510	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1936189	0.81[EUR][1000 genomes]
rs2096281	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34122971	0.84[ASN][1000 genomes]
rs34249314	0.94[ASN][1000 genomes]
rs35822564	0.84[ASN][1000 genomes]
rs3949256	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6050940	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050943	0.87[ASN][1000 genomes]
rs6050944	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6050945	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:21 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6115344	PYGB	cis	Whole Blood	GTEx
rs6115344	FAM182B	cis	Skin Sun Exposed Lower leg	GTEx
rs6115344	FAM182B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25840000-25845000	Flanking Bivalent TSS/Enh	HepG2	liver
2	chr20:25840400-25844400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr20:25840400-25844400	Active TSS	Brain Angular Gyrus	brain
4	chr20:25840400-25844800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr20:25841600-25844800	Active TSS	Hela-S3	cervix
6	chr20:25841600-25845000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr20:25841800-25843800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:25841800-25844000	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr20:25841800-25844600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr20:25841800-25847200	Enhancers	Spleen	Spleen
11	chr20:25842000-25844200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr20:25842000-25844400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:25842000-25844400	Active TSS	Psoas Muscle	Psoas
14	chr20:25842000-25844600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr20:25842000-25844600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr20:25842200-25844400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr20:25842200-25844600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr20:25842200-25844800	Flanking Active TSS	Dnd41	blood
19	chr20:25842400-25843800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
20	chr20:25842400-25844000	Enhancers	Lung	lung
21	chr20:25842600-25843800	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr20:25842600-25843800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr20:25842600-25843800	Flanking Active TSS	Right Ventricle	heart
24	chr20:25842800-25843800	Bivalent Enhancer	Fetal Lung	lung
25	chr20:25842800-25843800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr20:25842800-25844000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr20:25843000-25844200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:25843000-25844200	Active TSS	Brain Anterior Caudate	brain
29	chr20:25843000-25844200	Active TSS	Colon Smooth Muscle	Colon
30	chr20:25843000-25844600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:25843000-25844600	Active TSS	Right Atrium	heart
32	chr20:25843200-25843800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr20:25843200-25843800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:25843200-25843800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr20:25843200-25843800	Flanking Active TSS	Fetal Brain Female	brain
36	chr20:25843200-25843800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr20:25843200-25843800	Flanking Active TSS	NHEK	skin
38	chr20:25843200-25844000	Active TSS	Rectal Smooth Muscle	rectum
39	chr20:25843200-25844200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr20:25843200-25844400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr20:25843200-25844400	Active TSS	HSMM	muscle
42	chr20:25843200-25844600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr20:25843400-25843800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr20:25843400-25843800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr20:25843400-25843800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
46	chr20:25843400-25843800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr20:25843400-25843800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr20:25843400-25843800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr20:25843400-25843800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr20:25843400-25843800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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