Variant report

Variant	rs6037252
Chromosome Location	chr20:25841946-25841947
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	FOSL2	chr20:25841795-25844457	HepG2	liver:	n/a	n/a
2	FOXP2	chr20:25841868-25842110	PFSK-1	brain:	n/a	n/a
3	JUND	chr20:25841919-25842566	HepG2	liver:	n/a	n/a
4	PAX5	chr20:25841918-25842439	GM12878	blood:	n/a	n/a
5	IRF4	chr20:25841764-25842335	GM12878	blood:	n/a	n/a
6	SIX5	chr20:25841891-25842121	K562	blood:	n/a	n/a
7	NRF1	chr20:25841916-25842649	SK-N-SH	brain:	n/a	chr20:25842307-25842318
8	PAX5	chr20:25841904-25842540	GM12878	blood:	n/a	n/a
9	TCF12	chr20:25841902-25842090	GM12878	blood:	n/a	n/a
10	POLR2A	chr20:25841866-25842038	Gliobla	brain:	n/a	n/a
11	POU2F2	chr20:25841915-25842503	GM12878	blood:	n/a	n/a
12	TCF3	chr20:25841875-25842151	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs13433200	1.00[ASN][1000 genomes]
rs1977877	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002942	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2380318	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2890395	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4121105	1.00[ASN][1000 genomes]
rs4813595	1.00[ASN][1000 genomes]
rs4815476	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815482	1.00[ASN][1000 genomes]
rs4815489	1.00[ASN][1000 genomes]
rs4815490	1.00[ASN][1000 genomes]
rs4815491	1.00[ASN][1000 genomes]
rs4815494	1.00[ASN][1000 genomes]
rs4815495	1.00[ASN][1000 genomes]
rs4815496	1.00[ASN][1000 genomes]
rs4815497	0.83[ASN][1000 genomes]
rs56040867	0.83[ASN][1000 genomes]
rs56059532	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59779961	1.00[ASN][1000 genomes]
rs60007971	1.00[ASN][1000 genomes]
rs6037270	1.00[ASN][1000 genomes]
rs6037305	1.00[ASN][1000 genomes]
rs6037306	1.00[ASN][1000 genomes]
rs6037307	1.00[ASN][1000 genomes]
rs6037311	1.00[ASN][1000 genomes]
rs6037313	1.00[ASN][1000 genomes]
rs6037314	1.00[ASN][1000 genomes]
rs6050932	1.00[ASN][1000 genomes]
rs6050939	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050941	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050948	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6050950	0.87[AFR][1000 genomes]
rs6050958	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6051049	1.00[ASN][1000 genomes]
rs6051067	1.00[ASN][1000 genomes]
rs6051072	1.00[ASN][1000 genomes]
rs6051087	1.00[ASN][1000 genomes]
rs6107112	1.00[ASN][1000 genomes]
rs61091356	1.00[ASN][1000 genomes]
rs6115319	1.00[ASN][1000 genomes]
rs6115330	1.00[ASN][1000 genomes]
rs6115340	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115343	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115347	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115350	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115351	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115353	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6115355	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7267539	1.00[ASN][1000 genomes]
rs7268033	0.80[AMR][1000 genomes]
rs7274331	1.00[ASN][1000 genomes]
rs7345455	1.00[ASN][1000 genomes]
rs9653636	1.00[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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25838400-25842000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr20:25838400-25842200	ZNF genes & repeats	Dnd41	blood
3	chr20:25838600-25842000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr20:25839200-25842000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr20:25839400-25842000	Bivalent Enhancer	Placenta	Placenta
6	chr20:25839400-25842600	Enhancers	Fetal Heart	heart
7	chr20:25840000-25842000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr20:25840000-25842000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
9	chr20:25840000-25845000	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr20:25840200-25842000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:25840200-25842000	Bivalent Enhancer	Fetal Thymus	thymus
12	chr20:25840400-25842000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr20:25840400-25842800	Enhancers	Gastric	stomach
14	chr20:25840400-25844400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr20:25840400-25844400	Active TSS	Brain Angular Gyrus	brain
16	chr20:25840400-25844800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr20:25840600-25842000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr20:25840800-25842000	Enhancers	Esophagus	oesophagus
19	chr20:25840800-25842000	Enhancers	Ovary	ovary
20	chr20:25840800-25842000	Enhancers	Pancreas	Pancrea
21	chr20:25840800-25842200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr20:25841000-25842000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr20:25841000-25842000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr20:25841000-25842000	Weak transcription	Psoas Muscle	Psoas
25	chr20:25841000-25842000	Weak transcription	Right Atrium	heart
26	chr20:25841000-25842200	Enhancers	Liver	Liver
27	chr20:25841200-25842000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr20:25841200-25842000	Weak transcription	Left Ventricle	heart
29	chr20:25841200-25842600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr20:25841200-25842600	Active TSS	Right Ventricle	heart
31	chr20:25841200-25842800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr20:25841400-25842000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr20:25841400-25842000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr20:25841400-25842000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:25841400-25842000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr20:25841400-25842000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
37	chr20:25841400-25842000	Weak transcription	Lung	lung
38	chr20:25841400-25842600	Active TSS	Brain Anterior Caudate	brain
39	chr20:25841600-25842600	Active TSS	Brain Cingulate Gyrus	brain
40	chr20:25841600-25842600	Active TSS	Brain Germinal Matrix	brain
41	chr20:25841600-25844800	Active TSS	Hela-S3	cervix
42	chr20:25841600-25845000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr20:25841800-25842000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr20:25841800-25842000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
45	chr20:25841800-25842000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:25841800-25842000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:25841800-25842000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:25841800-25842000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr20:25841800-25842000	Enhancers	Fetal Brain Male	brain
50	chr20:25841800-25842000	Bivalent Enhancer	Fetal Lung	lung

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