Variant report

Variant	rs545155326
Chromosome Location	chr20:25370902-25370903
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	MYC	chr20:25370808-25371118	MCF-7	breast:	n/a	n/a
2	POLR2A	chr20:25370660-25371972	GM12892	blood:	n/a	n/a
3	POLR2A	chr20:25370617-25372005	MCF10A-Er-Src	breast:	n/a	n/a
4	MAZ	chr20:25370647-25371857	Hela-S3	cervix:	n/a	chr20:25371567-25371577
5	MXI1	chr20:25370224-25371937	HepG2	liver:	n/a	n/a
6	MAX	chr20:25370556-25372043	MCF-7	breast:	n/a	chr20:25371567-25371577
7	CHD1	chr20:25369668-25372344	IMR90	lung:	n/a	n/a
8	POLR2A	chr20:25370834-25371981	HepG2	liver:	n/a	n/a
9	PML	chr20:25370814-25371554	MCF-7	breast:	n/a	n/a
10	ELF1	chr20:25370286-25371884	GM12878	blood:	n/a	chr20:25371532-25371544 chr20:25371417-25371429 chr20:25371484-25371496 chr20:25371556-25371568
11	TCF7L2	chr20:25370636-25371822	HCT-116	colon:	n/a	n/a
12	POLR2A	chr20:25370722-25371991	Raji	blood:	n/a	n/a
13	POLR2A	chr20:25370343-25371528	GM12878	blood:	n/a	n/a
14	HEY1	chr20:25370762-25371963	HepG2	liver:	n/a	chr20:25371595-25371610 chr20:25371523-25371538 chr20:25371652-25371667 chr20:25371562-25371577
15	POLR2A	chr20:25370377-25371926	A549	lung:	n/a	n/a
16	CTCF	chr20:25370880-25371030	SK-N-SH_RA	brain:	n/a	n/a
17	MAX	chr20:25370365-25371941	HepG2	liver:	n/a	chr20:25371567-25371577
18	ZBTB7A	chr20:25370485-25371256	K562	blood:	n/a	n/a
19	POLR2A	chr20:25370732-25372059	HepG2	liver:	n/a	n/a
20	POLR2A	chr20:25370582-25371968	GM15510	blood:	n/a	n/a
21	SIN3AK20	chr20:25370429-25371901	PANC-1	pancreas:	n/a	n/a
22	HMGN3	chr20:25370531-25371880	K562	blood:	n/a	n/a
23	RAD21	chr20:25370497-25371908	IMR90	lung:	n/a	chr20:25371073-25371083 chr20:25371072-25371085 chr20:25371692-25371706
24	POLR2A	chr20:25370595-25372095	SK-N-MC	brain:	n/a	n/a
25	EGR1	chr20:25370824-25371144	K562	blood:	n/a	chr20:25370968-25370981 chr20:25371016-25371025 chr20:25370969-25370983 chr20:25371070-25371080 chr20:25370968-25370981 chr20:25371013-25371026 chr20:25370971-25370980
26	EP300	chr20:25370713-25371970	ECC-1	luminal epithelium:	n/a	chr20:25371070-25371086 chr20:25371397-25371413 chr20:25370784-25370800 chr20:25371393-25371409 chr20:25371952-25371962 chr20:25371484-25371500
27	POLR2A	chr20:25370820-25371074	K562	blood:	n/a	n/a
28	BHLHE40	chr20:25370868-25371011	GM12878	blood:	n/a	n/a
29	POLR2A	chr20:25370536-25371968	GM18526	blood:	n/a	n/a
30	MAX	chr20:25370272-25371995	A549	lung:	n/a	chr20:25371567-25371577
31	POLR2A	chr20:25370563-25371976	GM19193	blood:	n/a	n/a
32	E2F6	chr20:25370894-25372163	A549	lung:	n/a	chr20:25371511-25371520
33	MAZ	chr20:25370612-25371903	K562	blood:	n/a	chr20:25371567-25371577
34	EGR1	chr20:25370528-25371273	HCT-116	colon:	n/a	chr20:25370968-25370981 chr20:25371016-25371025 chr20:25370969-25370983 chr20:25371070-25371080 chr20:25370968-25370981 chr20:25370541-25370554 chr20:25371013-25371026 chr20:25370971-25370980 chr20:25370771-25370784
35	POLR2A	chr20:25370438-25371994	GM19099	blood:	n/a	n/a
36	NR2F2	chr20:25370545-25371292	MCF-7	breast:	n/a	n/a
37	TAF1	chr20:25370839-25372006	MCF-7	breast:	n/a	n/a
38	SIN3AK20	chr20:25370713-25372088	HCT-116	colon:	n/a	n/a
39	POLR2A	chr20:25370817-25371560	HepG2	liver:	n/a	n/a
40	MAX	chr20:25370373-25371945	GM12878	blood:	n/a	chr20:25371567-25371577
41	SIN3A	chr20:25370003-25372088	H1-hESC	embryonic stem cell:	n/a	chr20:25370979-25370992 chr20:25371708-25371721 chr20:25371464-25371477
42	CEBPD	chr20:25370812-25371282	HepG2	liver:	n/a	n/a
43	POLR2A	chr20:25370773-25372020	MCF-7	breast:	n/a	n/a
44	RCOR1	chr20:25370153-25371949	HepG2	liver:	n/a	n/a
45	CTBP2	chr20:25370305-25371338	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr20:25370839-25371068	A549	lung:	n/a	n/a
47	POLR2A	chr20:25370833-25371529	A549	lung:	n/a	n/a
48	CTCF	chr20:25370800-25370950	GM12869	blood:	n/a	n/a
49	RUNX3	chr20:25370854-25371098	GM12878	blood:	n/a	n/a
50	MXI1	chr20:25369816-25372167	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:25370897-25370947	Jurkat	blood:	n/a
2	chr20:25370897-25370947	AG04449	skin:	fetal
3	chr20:25370897-25370947	LNCaP	prostate:	n/a
4	chr20:25370897-25370947	HCM	heart:	n/a
5	chr20:25370897-25370947	NHBE	bronchial:	n/a
6	chr20:25370897-25370947	HEEpiC	esophagus:	n/a
7	chr20:25370897-25370947	NH-A	brain:	n/a
8	chr20:25370897-25370947	BJ	skin:	n/a
9	chr20:25370897-25370947	PFSK-1	brain:	n/a
10	chr20:25370897-25370947	HL-60	blood:	n/a
11	chr20:25370897-25370947	HepG2	liver:	n/a
12	chr20:25370897-25370947	NT2-D1	testis:	n/a
13	chr20:25370897-25370947	CMK	blood:	n/a
14	chr20:25370897-25370947	GM12878	blood:	n/a
15	chr20:25370897-25370947	ovcar-3	ovarian:	n/a
16	chr20:25370897-25370947	GM19239	blood:	n/a
17	chr20:25370897-25370947	GM12891	blood:	n/a
18	chr20:25370897-25370947	BE2_C	brain:	n/a
19	chr20:25370897-25370947	Caco-2	colon:	n/a
20	chr20:25370897-25370947	HRE	kidney:	n/a
21	chr20:25370897-25370947	Hepatocyte	liver:	n/a
22	chr20:25370897-25370947	ProgFib	skin:	n/a
23	chr20:25370897-25370947	AG10803	skin:	n/a
24	chr20:25370897-25370947	T-47D	breast:	n/a
25	chr20:25370897-25370947	RPTEC	kidney:	n/a
26	chr20:25370897-25370947	SK-N-MC	brain:	n/a
27	chr20:25370897-25370947	NHDF-neo	bronchial:	n/a
28	chr20:25370897-25370947	HPAEpiC	pulmonary alveolar:	n/a
29	chr20:25370897-25370947	ECC-1	luminal epithelium:	n/a
30	chr20:25370897-25370947	GM06990	blood:	n/a
31	chr20:25370897-25370947	HAEpiC	amniotic membrane:	n/a
32	chr20:25370897-25370947	HMEC	breast:	n/a
33	chr20:25370897-25370947	HEK293	kidney:	embryo
34	chr20:25370897-25370947	HUVEC	blood vessel:	n/a
35	chr20:25370897-25370947	SKMC	muscle:	n/a
36	chr20:25370897-25370947	AoSMC	blood vessel:	n/a
37	chr20:25370897-25370947	HIPEpiC	eye:	n/a
38	chr20:25370897-25370947	IMR90	lung:	fetal
39	chr20:25370897-25370947	AG09309	skin:	n/a
40	chr20:25370897-25370947	HCT-116	colon:	n/a
41	chr20:25370897-25370947	AG04450	lung:	fetal
42	chr20:25370897-25370947	SAEC	small airway:	n/a
43	chr20:25370897-25370947	MCF10A-Er-Src	breast:	n/a
44	chr20:25370897-25370947	AG09319	gingival:	n/a
45	chr20:25370897-25370947	SK-N-SH_RA	brain:	n/a
46	chr20:25370897-25370947	MCF-7	breast:	n/a
47	chr20:25370897-25370947	HNPCEpiC	eye:	n/a
48	chr20:25370897-25370947	Hela-S3	cervix:	n/a
49	chr20:25370897-25370947	HRPEpiC	eye:	n/a
50	chr20:25370897-25370947	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25175542..25177840-chr20:25370513..25373072,2	MCF-7	breast:
2	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
3	chr20:25316023..25323524-chr20:25367529..25373124,12	MCF-7	breast:
4	chr20:25347572..25351720-chr20:25369390..25373253,5	MCF-7	breast:
5	chr20:25290481..25292963-chr20:25369877..25371974,2	MCF-7	breast:
6	chr20:25274373..25276866-chr20:25369511..25371754,2	K562	blood:
7	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:

Variant related genes	Relation type
ABHD12	TF binding region
ABHD12	CpG island
ENSG00000197586	Chromatin interaction
ENSG00000101003	Chromatin interaction
ENSG00000100994	Chromatin interaction
ENSG00000100997	Chromatin interaction
ENSG00000227379	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1061058	chr20:25327960-25388841	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv964440	chr20:25351740-25387631	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	nsv1061398	chr20:25370106-25444076	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25369800-25372000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr20:25369800-25372400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:25369800-25372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:25369800-25372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:25369800-25372400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr20:25369800-25372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr20:25369800-25372400	Active TSS	Fetal Brain Female	brain
8	chr20:25369800-25372400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr20:25369800-25372400	Active TSS	Placenta	Placenta
10	chr20:25369800-25372400	Active TSS	NHDF-Ad	bronchial
11	chr20:25369800-25372400	Active TSS	NHLF	lung
12	chr20:25369800-25372800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr20:25370000-25371000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr20:25370000-25371000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr20:25370000-25371000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr20:25370000-25371000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:25370000-25371000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr20:25370000-25371200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr20:25370000-25372000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:25370000-25372000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr20:25370000-25372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:25370000-25372000	Active TSS	Brain Cingulate Gyrus	brain
23	chr20:25370000-25372000	Active TSS	Esophagus	oesophagus
24	chr20:25370000-25372200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:25370000-25372400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr20:25370000-25372400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr20:25370000-25372400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:25370000-25372400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:25370000-25372400	Active TSS	Brain Germinal Matrix	brain
30	chr20:25370200-25371000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr20:25370200-25371000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr20:25370200-25371000	Active TSS	Right Atrium	heart
33	chr20:25370200-25371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr20:25370200-25371800	Active TSS	Gastric	stomach
35	chr20:25370200-25371800	Active TSS	Lung	lung
36	chr20:25370200-25372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr20:25370200-25372000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:25370200-25372000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr20:25370200-25372000	Active TSS	Brain Hippocampus Middle	brain
40	chr20:25370200-25372000	Active TSS	Brain Substantia Nigra	brain
41	chr20:25370200-25372000	Active TSS	Fetal Intestine Large	intestine
42	chr20:25370200-25372000	Active TSS	Left Ventricle	heart
43	chr20:25370200-25372000	Active TSS	Ovary	ovary
44	chr20:25370200-25372000	Active TSS	HSMM	muscle
45	chr20:25370200-25372200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr20:25370200-25372200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr20:25370200-25372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr20:25370200-25372200	Active TSS	Fetal Intestine Small	intestine
49	chr20:25370200-25372200	Active TSS	Fetal Lung	lung
50	chr20:25370200-25372200	Active TSS	Fetal Muscle Trunk	muscle

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