Variant report

Variant	rs4815497
Chromosome Location	chr20:25991267-25991268
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr20:25990198-25991976	GM12891	blood:	n/a	n/a
2	POLR2A	chr20:25990276-25991842	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:25991266-25991783	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr20:25990133-25992034	GM12892	blood:	n/a	n/a
5	POLR2A	chr20:25990961-25991997	GM12891	blood:	n/a	n/a
6	TAF1	chr20:25991249-25991736	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:25990308-25991973	GM12892	blood:	n/a	n/a
8	RXRA	chr20:25990651-25991765	HepG2	liver:	n/a	n/a
9	SPI1	chr20:25991251-25991441	GM12878	blood:	n/a	n/a
10	HEY1	chr20:25989998-25991927	HepG2	liver:	n/a	n/a
11	TBP	chr20:25990927-25991358	HepG2	liver:	n/a	n/a
12	TCF12	chr20:25991264-25991707	HepG2	liver:	n/a	n/a
13	HEY1	chr20:25991016-25991805	K562	blood:	n/a	n/a
14	POLR2A	chr20:25990155-25991915	HepG2	liver:	n/a	n/a
15	POLR2A	chr20:25990149-25992092	GM12892	blood:	n/a	n/a
16	SP1	chr20:25990908-25991904	HepG2	liver:	n/a	n/a
17	MYBL2	chr20:25990867-25991710	HepG2	liver:	n/a	n/a
18	POLR2A	chr20:25990220-25991829	GM12891	blood:	n/a	n/a
19	USF1	chr20:25990988-25991317	HepG2	liver:	n/a	n/a
20	POLR2A	chr20:25990247-25991525	HepG2	liver:	n/a	n/a
21	POLR2A	chr20:25991026-25991841	GM12878	blood:	n/a	n/a
22	POLR2A	chr20:25991094-25991944	GM12892	blood:	n/a	n/a
23	POLR2A	chr20:25990159-25991789	HepG2	liver:	n/a	n/a
24	TEAD4	chr20:25990818-25991792	HepG2	liver:	n/a	n/a
25	FOSL2	chr20:25991171-25992171	HepG2	liver:	n/a	n/a
26	POLR2A	chr20:25990245-25992029	GM12878	blood:	n/a	n/a
27	GATA2	chr20:25991025-25991580	K562	blood:	n/a	n/a
28	FOXA1	chr20:25990927-25991743	HepG2	liver:	n/a	n/a
29	FOSL2	chr20:25990204-25991927	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr20:25990977-25991654	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr20:25990958-25991862	HepG2	liver:	n/a	n/a
32	ZBTB33	chr20:25991251-25991588	HepG2	liver:	n/a	n/a
33	POU2F2	chr20:25991206-25991674	GM12878	blood:	n/a	n/a
34	POLR2A	chr20:25990214-25991895	GM12891	blood:	n/a	n/a
35	POLR2A	chr20:25990285-25991392	Hela-S3	cervix:	n/a	n/a
36	JUND	chr20:25990967-25991786	HepG2	liver:	n/a	n/a
37	POLR2A	chr20:25990986-25991746	Hela-S3	cervix:	n/a	n/a
38	MXI1	chr20:25990167-25991474	IMR90	lung:	n/a	n/a
39	POLR2A	chr20:25990332-25991476	HepG2	liver:	n/a	n/a
40	SPI1	chr20:25991249-25991547	K562	blood:	n/a	n/a
41	POLR2A	chr20:25991199-25991826	GM12878	blood:	n/a	n/a
42	HEY1	chr20:25990243-25991891	HepG2	liver:	n/a	n/a
43	POLR2A	chr20:25990199-25992166	GM12878	blood:	n/a	n/a
44	HEY1	chr20:25991148-25991838	K562	blood:	n/a	n/a
45	SPI1	chr20:25991266-25991514	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000231081	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs13433200	0.83[ASN][1000 genomes]
rs1977877	0.83[ASN][1000 genomes]
rs2002942	0.83[ASN][1000 genomes]
rs4121105	0.83[ASN][1000 genomes]
rs4813595	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815476	0.83[ASN][1000 genomes]
rs4815482	0.83[ASN][1000 genomes]
rs4815489	0.83[ASN][1000 genomes]
rs4815490	0.83[ASN][1000 genomes]
rs4815491	0.83[ASN][1000 genomes]
rs4815494	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815495	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4815496	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56040867	0.86[EUR][1000 genomes]
rs56059532	0.83[ASN][1000 genomes]
rs56904360	0.81[EUR][1000 genomes]
rs59779961	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60007971	0.83[ASN][1000 genomes]
rs6037252	0.83[ASN][1000 genomes]
rs6037270	0.83[ASN][1000 genomes]
rs6037305	0.83[ASN][1000 genomes]
rs6037306	0.83[ASN][1000 genomes]
rs6037307	0.83[ASN][1000 genomes]
rs6037311	0.83[ASN][1000 genomes]
rs6037313	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6037314	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6050932	0.83[ASN][1000 genomes]
rs6050941	0.83[ASN][1000 genomes]
rs6051049	0.83[ASN][1000 genomes]
rs6051067	0.83[ASN][1000 genomes]
rs6051072	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6051087	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6107112	0.83[ASN][1000 genomes]
rs61091356	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6115319	0.83[ASN][1000 genomes]
rs6115330	0.83[ASN][1000 genomes]
rs6115343	0.83[ASN][1000 genomes]
rs6115347	0.83[ASN][1000 genomes]
rs6115350	0.83[ASN][1000 genomes]
rs6115351	0.83[ASN][1000 genomes]
rs6115355	0.83[ASN][1000 genomes]
rs7267539	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7274331	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7345455	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9653636	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
5	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
6	nsv962569	chr20:25876021-26152500	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv585761	chr20:25892571-26299677	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3518424	chr20:25911038-26051227	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3518425	chr20:25911125-26051144	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1060508	chr20:25918612-26305567	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1057970	chr20:25937126-26305567	Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
12	nsv1059447	chr20:25941928-26305567	Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
13	nsv1067411	chr20:25955110-26305567	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
14	nsv1065198	chr20:25959162-26305567	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
15	esv3493532	chr20:25972821-26045537	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3493533	chr20:25972821-26045537	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv3528526	chr20:25988952-26027050	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv3528527	chr20:25988952-26027050	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv14698	chr20:25989773-26056362	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv3495632	chr20:25990002-26013500	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3495633	chr20:25990002-26013500	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv585769	chr20:25990002-26045575	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv9797	chr20:25990371-26051189	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
24	esv3375441	chr20:25990402-26049400	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	4 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	chr20:25989600-25991600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr20:25989800-25991600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:25989800-25991600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:25989800-25991600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:25989800-25991600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:25989800-25991600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:25989800-25991600	Active TSS	Brain Cingulate Gyrus	brain
8	chr20:25989800-25991600	Active TSS	A549	lung
9	chr20:25990000-25991400	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr20:25990000-25991400	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr20:25990000-25991400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:25990000-25991400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:25990000-25991400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr20:25990000-25991400	Active TSS	Fetal Brain Female	brain
15	chr20:25990000-25991400	Active TSS	Fetal Kidney	kidney
16	chr20:25990000-25991400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr20:25990000-25991400	Active TSS	Psoas Muscle	Psoas
18	chr20:25990000-25991400	Active TSS	Right Atrium	heart
19	chr20:25990000-25991600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr20:25990000-25991600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr20:25990000-25991600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:25990000-25991600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:25990000-25991600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:25990000-25991600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:25990000-25991600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr20:25990000-25991600	Active TSS	Muscle Satellite Cultured Cells	--
27	chr20:25990000-25991600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:25990000-25991600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:25990000-25991600	Active TSS	Brain Germinal Matrix	brain
30	chr20:25990000-25991600	Active TSS	Brain Hippocampus Middle	brain
31	chr20:25990000-25991600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr20:25990000-25991600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr20:25990000-25991600	Active TSS	Fetal Intestine Small	intestine
34	chr20:25990000-25991600	Active TSS	Fetal Muscle Trunk	muscle
35	chr20:25990000-25991600	Active TSS	Right Ventricle	heart
36	chr20:25990000-25991600	Active TSS	Stomach Smooth Muscle	stomach
37	chr20:25990000-25991600	Active TSS	Hela-S3	cervix
38	chr20:25990000-25991600	Active TSS	HSMM	muscle
39	chr20:25990000-25991600	Active TSS	HSMMtube	muscle
40	chr20:25990000-25991600	Active TSS	HUVEC	blood vessel
41	chr20:25990000-25991600	Active TSS	NHLF	lung
42	chr20:25990000-25991600	Active TSS	Osteobl	bone
43	chr20:25990200-25991400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr20:25990200-25991400	Active TSS	Primary T cells from cord blood	blood
45	chr20:25990200-25991400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr20:25990200-25991400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr20:25990200-25991400	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr20:25990200-25991400	Active TSS	Brain Angular Gyrus	brain
49	chr20:25990200-25991400	Active TSS	Colon Smooth Muscle	Colon
50	chr20:25990200-25991400	Flanking Active TSS	Placenta	Placenta

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