Variant report

Variant	rs2380318
Chromosome Location	chr20:25849178-25849179
allele	G/T
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	MAX	chr20:25848629-25849262	A549	lung:	n/a	n/a
2	MAX	chr20:25848770-25849235	A549	lung:	n/a	n/a
3	NRF1	chr20:25848330-25849180	SK-N-SH	brain:	n/a	chr20:25848857-25848868

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1977877	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2002942	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2890395	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4815476	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56059532	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6037252	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6050939	0.90[AFR][1000 genomes]
rs6050941	0.84[EUR][1000 genomes]
rs6050948	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6050950	0.94[AFR][1000 genomes]
rs6050958	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6115340	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6115343	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6115347	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6115350	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6115351	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6115353	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6115355	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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:111 , 50 per page) page: 1 2 3

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	chr20:25848200-25850000	Enhancers	Spleen	Spleen
6	chr20:25848400-25849200	Flanking Active TSS	Esophagus	oesophagus
7	chr20:25848400-25849400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:25848400-25849400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr20:25848400-25849400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr20:25848400-25849400	Enhancers	Primary B cells from peripheral blood	blood
11	chr20:25848400-25849400	Active TSS	Colon Smooth Muscle	Colon
12	chr20:25848400-25849600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr20:25848400-25849600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr20:25848400-25849600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
15	chr20:25848400-25849600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr20:25848400-25849600	Active TSS	Brain Angular Gyrus	brain
17	chr20:25848400-25849800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr20:25848400-25849800	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr20:25848600-25849200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr20:25848600-25849200	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr20:25848600-25849200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr20:25848600-25849200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr20:25848600-25849200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr20:25848600-25849200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr20:25848600-25849200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:25848600-25849200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:25848600-25849200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr20:25848600-25849200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr20:25848600-25849400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr20:25848600-25849400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr20:25848600-25849400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:25848600-25849400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:25848600-25849400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr20:25848600-25849400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
35	chr20:25848600-25849400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:25848600-25849400	Active TSS	Brain Substantia Nigra	brain
37	chr20:25848600-25849400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr20:25848600-25849400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr20:25848600-25849400	Active TSS	Psoas Muscle	Psoas
40	chr20:25848600-25849400	Active TSS	Right Atrium	heart
41	chr20:25848600-25849400	Active TSS	HSMM	muscle
42	chr20:25848600-25849600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr20:25848600-25849600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr20:25848600-25849600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr20:25848600-25849600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:25848600-25849600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr20:25848600-25849600	Flanking Active TSS	Pancreas	Pancrea
48	chr20:25848600-25849600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
49	chr20:25848600-25849600	Bivalent/Poised TSS	NHDF-Ad	bronchial
50	chr20:25848600-25849600	Bivalent/Poised TSS	Osteobl	bone

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