Variant report

Variant	rs4815476
Chromosome Location	chr20:25843944-25843945
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr20:25843671-25844471	GM12878	blood:	n/a	n/a
2	JUND	chr20:25843770-25844373	HepG2	liver:	n/a	n/a
3	MAX	chr20:25843912-25844103	K562	blood:	n/a	n/a
4	RUNX3	chr20:25843879-25844129	GM12878	blood:	n/a	n/a
5	RCOR1	chr20:25843638-25844273	K562	blood:	n/a	n/a
6	PAX5	chr20:25843830-25843973	GM12878	blood:	n/a	n/a
7	NRF1	chr20:25843786-25844160	H1-hESC	embryonic stem cell:	n/a	chr20:25843951-25843962 chr20:25843964-25843975
8	NRF1	chr20:25843767-25844155	Hela-S3	cervix:	n/a	chr20:25843951-25843962 chr20:25843964-25843975
9	POLR2A	chr20:25843850-25844232	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr20:25843740-25844273	K562	blood:	n/a	n/a
11	BHLHE40	chr20:25843608-25844126	K562	blood:	n/a	n/a
12	CTCF	chr20:25843933-25844126	K562	blood:	n/a	n/a
13	CTCF	chr20:25843940-25844103	GM12892	blood:	n/a	n/a
14	MAX	chr20:25843482-25844624	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr20:25843901-25844083	A549	lung:	n/a	n/a
16	CTCF	chr20:25843927-25844100	Lung_OC	lung:	n/a	n/a
17	FOSL2	chr20:25841795-25844457	HepG2	liver:	n/a	n/a
18	RAD21	chr20:25843847-25844172	SK-N-SH_RA	brain:	n/a	n/a
19	HEY1	chr20:25843831-25844236	HepG2	liver:	n/a	n/a
20	RAD21	chr20:25843853-25844189	HepG2	liver:	n/a	n/a
21	TCF3	chr20:25843476-25844304	GM12878	blood:	n/a	n/a
22	CTCF	chr20:25843908-25844096	GM19240	blood:	n/a	n/a
23	CTCF	chr20:25843900-25844074	Spleen_OC	spleen:	n/a	n/a
24	SP1	chr20:25843708-25844274	A549	lung:	n/a	n/a
25	CTCF	chr20:25843863-25844169	GM12878	blood:	n/a	n/a
26	RCOR1	chr20:25843806-25844083	HepG2	liver:	n/a	n/a
27	CTCF	chr20:25843862-25844145	K562	blood:	n/a	n/a
28	PAX5	chr20:25843609-25844096	GM12878	blood:	n/a	n/a
29	HEY1	chr20:25843608-25844460	K562	blood:	n/a	n/a
30	PBX3	chr20:25843779-25843945	GM12878	blood:	n/a	n/a
31	CTCF	chr20:25843919-25844093	Gliobla	brain:	n/a	n/a
32	RXRA	chr20:25842730-25844344	HepG2	liver:	n/a	n/a
33	NRF1	chr20:25843471-25844338	SK-N-SH	brain:	n/a	chr20:25843951-25843962 chr20:25843964-25843975
34	IRF4	chr20:25843441-25843967	GM12878	blood:	n/a	n/a
35	MXI1	chr20:25843777-25843961	GM12878	blood:	n/a	n/a
36	ZBTB33	chr20:25843746-25844125	K562	blood:	n/a	n/a
37	GABPA	chr20:25843796-25844012	Hela-S3	cervix:	n/a	n/a
38	ATF3	chr20:25843689-25844092	HepG2	liver:	n/a	n/a
39	CTCF	chr20:25843934-25844117	LNCaP	prostate:	n/a	n/a
40	SPI1	chr20:25843813-25843958	K562	blood:	n/a	n/a
41	RUNX3	chr20:25843848-25844118	GM12878	blood:	n/a	n/a
42	CTCF	chr20:25843872-25844162	HepG2	liver:	n/a	n/a
43	CTCF	chr20:25843890-25844086	GM19239	blood:	n/a	n/a
44	CTCF	chr20:25843826-25844192	K562	blood:	n/a	n/a
45	PAX5	chr20:25842877-25844432	GM12878	blood:	n/a	n/a
46	POLR2A	chr20:25843800-25844178	PANC-1	pancreas:	n/a	n/a
47	ZBTB33	chr20:25843790-25844018	GM12878	blood:	n/a	n/a
48	RCOR1	chr20:25843937-25844136	K562	blood:	n/a	n/a
49	USF1	chr20:25843614-25844052	HepG2	liver:	n/a	n/a
50	CTCF	chr20:25843929-25844094	GM19238	blood:	n/a	n/a

No data

Variant related genes	Relation type
FAM182B	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs13433200	1.00[ASN][1000 genomes]
rs1977877	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002942	1.00[ASN][1000 genomes]
rs2380318	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2890395	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4121105	1.00[ASN][1000 genomes]
rs4813595	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	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59779961	1.00[ASN][1000 genomes]
rs60007971	1.00[ASN][1000 genomes]
rs6037252	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];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	0.83[ASN][1000 genomes]
rs6050941	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6050948	0.82[EUR][1000 genomes]
rs6050958	0.87[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	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115343	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115347	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115350	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115351	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6115353	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6115355	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7267539	1.00[ASN][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: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

No data

Chromatin state (count:124 , 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	chr20:25841800-25844000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr20:25841800-25844600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr20:25841800-25847200	Enhancers	Spleen	Spleen
10	chr20:25842000-25844200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:25842000-25844400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:25842000-25844400	Active TSS	Psoas Muscle	Psoas
13	chr20:25842000-25844600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr20:25842000-25844600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr20:25842200-25844400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:25842200-25844600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr20:25842200-25844800	Flanking Active TSS	Dnd41	blood
18	chr20:25842400-25844000	Enhancers	Lung	lung
19	chr20:25842800-25844000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr20:25843000-25844200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr20:25843000-25844200	Active TSS	Brain Anterior Caudate	brain
22	chr20:25843000-25844200	Active TSS	Colon Smooth Muscle	Colon
23	chr20:25843000-25844600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr20:25843000-25844600	Active TSS	Right Atrium	heart
25	chr20:25843200-25844000	Active TSS	Rectal Smooth Muscle	rectum
26	chr20:25843200-25844200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr20:25843200-25844400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr20:25843200-25844400	Active TSS	HSMM	muscle
29	chr20:25843200-25844600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:25843400-25844000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr20:25843400-25844000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
32	chr20:25843400-25844000	Bivalent Enhancer	HUVEC	blood vessel
33	chr20:25843400-25844000	Bivalent Enhancer	NHLF	lung
34	chr20:25843400-25844200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr20:25843400-25844200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr20:25843400-25844200	Bivalent/Poised TSS	Fetal Kidney	kidney
37	chr20:25843400-25844200	Active TSS	HSMMtube	muscle
38	chr20:25843400-25844400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:25843400-25844400	Flanking Active TSS	Liver	Liver
40	chr20:25843400-25844400	Active TSS	A549	lung
41	chr20:25843600-25844000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr20:25843600-25844000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr20:25843600-25844000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr20:25843600-25844000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr20:25843600-25844200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr20:25843600-25844200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr20:25843600-25844200	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
48	chr20:25843600-25844200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
49	chr20:25843600-25844200	Active TSS	Brain Cingulate Gyrus	brain
50	chr20:25843600-25844200	Flanking Active TSS	Esophagus	oesophagus

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