Variant report

Variant	rs6050950
Chromosome Location	chr20:25848235-25848236
allele	A/C
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	IRF4	chr20:25848130-25848621	GM12878	blood:	n/a	n/a
2	HEY1	chr20:25848229-25848684	K562	blood:	n/a	n/a
3	PAX5	chr20:25848129-25848669	GM12878	blood:	n/a	n/a
4	IRF4	chr20:25848126-25848632	GM12878	blood:	n/a	n/a
5	ZBTB33	chr20:25848139-25848647	GM12878	blood:	n/a	n/a
6	PAX5	chr20:25848117-25848747	GM12878	blood:	n/a	n/a
7	SP1	chr20:25848209-25848553	GM12878	blood:	n/a	n/a
8	POU2F2	chr20:25848158-25848782	GM12878	blood:	n/a	n/a
9	FOSL2	chr20:25848206-25848744	HepG2	liver:	n/a	n/a
10	EBF1	chr20:25848214-25848598	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1977877	0.93[AFR][1000 genomes]
rs2380318	0.94[AFR][1000 genomes]
rs56059532	0.85[AFR][1000 genomes]
rs6037252	0.87[AFR][1000 genomes]
rs6050939	0.84[AFR][1000 genomes]
rs6050948	0.86[AFR][1000 genomes]
rs6115340	0.93[AFR][1000 genomes]
rs6115347	0.87[AFR][1000 genomes]
rs6115353	0.91[AFR][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	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

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25844600-25849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:25844800-25849200	Active TSS	Brain Germinal Matrix	brain
3	chr20:25844800-25849800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr20:25846000-25850000	Active TSS	Brain Anterior Caudate	brain
5	chr20:25846600-25848400	Weak transcription	Gastric	stomach
6	chr20:25846600-25848400	Weak transcription	Lung	lung
7	chr20:25846600-25848600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr20:25846800-25848400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:25846800-25848400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr20:25846800-25848400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr20:25846800-25848400	Weak transcription	Brain Substantia Nigra	brain
12	chr20:25846800-25848400	Weak transcription	Colon Smooth Muscle	Colon
13	chr20:25846800-25848400	Weak transcription	Right Ventricle	heart
14	chr20:25846800-25848400	Weak transcription	HMEC	breast
15	chr20:25846800-25848400	Weak transcription	HSMMtube	muscle
16	chr20:25846800-25848600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr20:25846800-25848600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr20:25846800-25848600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr20:25846800-25848600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr20:25846800-25848600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr20:25846800-25848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr20:25846800-25848600	Weak transcription	Psoas Muscle	Psoas
23	chr20:25846800-25848600	Weak transcription	Right Atrium	heart
24	chr20:25846800-25848600	Weak transcription	A549	lung
25	chr20:25846800-25848600	Weak transcription	HSMM	muscle
26	chr20:25846800-25848800	Weak transcription	Ovary	ovary
27	chr20:25847000-25848400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:25847000-25848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr20:25847000-25848400	Weak transcription	Adipose Nuclei	Adipose
30	chr20:25847000-25848400	Weak transcription	Liver	Liver
31	chr20:25847000-25848400	Weak transcription	Left Ventricle	heart
32	chr20:25847000-25848600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr20:25847000-25848600	Weak transcription	Fetal Heart	heart
34	chr20:25847200-25848400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr20:25847200-25848400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr20:25847200-25848400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr20:25847200-25848400	Weak transcription	Esophagus	oesophagus
38	chr20:25847200-25848400	Weak transcription	Pancreas	Pancrea
39	chr20:25847200-25848400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr20:25847200-25848600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr20:25847600-25848400	Weak transcription	Brain Angular Gyrus	brain
42	chr20:25848200-25848400	Active TSS	Brain Hippocampus Middle	brain
43	chr20:25848200-25848400	Flanking Active TSS	Fetal Brain Female	brain
44	chr20:25848200-25848400	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr20:25848200-25848400	Active TSS	Stomach Smooth Muscle	stomach
46	chr20:25848200-25848600	Enhancers	Fetal Brain Male	brain
47	chr20:25848200-25850000	Enhancers	Spleen	Spleen

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