Variant report

Variant	rs373200654
Chromosome Location	chr20:25371383-25371384
allele	C/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	HEY1	chr20:25371057-25371937	HepG2	liver:	n/a	chr20:25371595-25371610 chr20:25371523-25371538 chr20:25371652-25371667 chr20:25371562-25371577
2	ELF1	chr20:25371203-25371959	MCF-7	breast:	n/a	chr20:25371532-25371544 chr20:25371417-25371429 chr20:25371484-25371496 chr20:25371556-25371568
3	POLR2A	chr20:25370660-25371972	GM12892	blood:	n/a	n/a
4	POLR2A	chr20:25370617-25372005	MCF10A-Er-Src	breast:	n/a	n/a
5	TAF1	chr20:25371328-25371523	Hela-S3	cervix:	n/a	n/a
6	TBP	chr20:25371037-25372012	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr20:25371321-25372109	GM12878	blood:	n/a	chr20:25371397-25371413 chr20:25371393-25371409 chr20:25371952-25371962 chr20:25371484-25371500
8	MAZ	chr20:25370647-25371857	Hela-S3	cervix:	n/a	chr20:25371567-25371577
9	MXI1	chr20:25370224-25371937	HepG2	liver:	n/a	n/a
10	MAX	chr20:25370556-25372043	MCF-7	breast:	n/a	chr20:25371567-25371577
11	RFX5	chr20:25371326-25371922	Hela-S3	cervix:	n/a	chr20:25371512-25371521
12	CHD1	chr20:25369668-25372344	IMR90	lung:	n/a	n/a
13	MAX	chr20:25371271-25371940	A549	lung:	n/a	chr20:25371567-25371577
14	POLR2A	chr20:25370834-25371981	HepG2	liver:	n/a	n/a
15	TAF1	chr20:25371301-25371544	SK-N-SH	brain:	n/a	n/a
16	IRF1	chr20:25371226-25371877	K562	blood:	n/a	chr20:25371511-25371520 chr20:25371559-25371573
17	RAD21	chr20:25371133-25371859	HepG2	liver:	n/a	chr20:25371692-25371706
18	PML	chr20:25370814-25371554	MCF-7	breast:	n/a	n/a
19	ELF1	chr20:25370286-25371884	GM12878	blood:	n/a	chr20:25371532-25371544 chr20:25371417-25371429 chr20:25371484-25371496 chr20:25371556-25371568
20	TCF7L2	chr20:25370636-25371822	HCT-116	colon:	n/a	n/a
21	POLR2A	chr20:25371275-25371534	GM12891	blood:	n/a	n/a
22	ELF1	chr20:25371150-25371847	HepG2	liver:	n/a	chr20:25371532-25371544 chr20:25371417-25371429 chr20:25371484-25371496 chr20:25371556-25371568
23	POLR2A	chr20:25370722-25371991	Raji	blood:	n/a	n/a
24	POLR2A	chr20:25370343-25371528	GM12878	blood:	n/a	n/a
25	TBP	chr20:25371177-25371962	HepG2	liver:	n/a	n/a
26	HEY1	chr20:25370762-25371963	HepG2	liver:	n/a	chr20:25371595-25371610 chr20:25371523-25371538 chr20:25371652-25371667 chr20:25371562-25371577
27	SIN3AK20	chr20:25370962-25371536	HepG2	liver:	n/a	n/a
28	POLR2A	chr20:25370377-25371926	A549	lung:	n/a	n/a
29	MAX	chr20:25370365-25371941	HepG2	liver:	n/a	chr20:25371567-25371577
30	POLR2A	chr20:25370732-25372059	HepG2	liver:	n/a	n/a
31	YY1	chr20:25371272-25371865	SK-N-SH_RA	brain:	n/a	chr20:25371549-25371560 chr20:25371627-25371649 chr20:25371626-25371638 chr20:25371627-25371637 chr20:25371630-25371638
32	TAF1	chr20:25371255-25371878	H1-neurons	neurons:	n/a	n/a
33	MAX	chr20:25371062-25371938	H1-hESC	embryonic stem cell:	n/a	chr20:25371567-25371577
34	JUND	chr20:25371107-25371863	A549	lung:	n/a	chr20:25371513-25371522
35	POLR2A	chr20:25370582-25371968	GM15510	blood:	n/a	n/a
36	SIN3AK20	chr20:25370429-25371901	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr20:25371165-25371506	HUVEC	blood vessel:	n/a	n/a
38	YY1	chr20:25371100-25371918	GM12878	blood:	n/a	chr20:25371549-25371560 chr20:25371627-25371649 chr20:25371626-25371638 chr20:25371627-25371637 chr20:25371630-25371638
39	HMGN3	chr20:25370531-25371880	K562	blood:	n/a	n/a
40	RAD21	chr20:25370497-25371908	IMR90	lung:	n/a	chr20:25371073-25371083 chr20:25371072-25371085 chr20:25371692-25371706
41	POLR2A	chr20:25370595-25372095	SK-N-MC	brain:	n/a	n/a
42	HCFC1	chr20:25371070-25371869	K562	blood:	n/a	n/a
43	POLR2A	chr20:25371277-25371987	HepG2	liver:	n/a	n/a
44	MAX	chr20:25371086-25371959	K562	blood:	n/a	chr20:25371567-25371577
45	RUNX3	chr20:25371138-25371904	GM12878	blood:	n/a	n/a
46	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
47	TCF12	chr20:25371362-25372122	A549	lung:	n/a	n/a
48	FOSL2	chr20:25371186-25371919	HepG2	liver:	n/a	chr20:25371513-25371522
49	TAF1	chr20:25371119-25371872	K562	blood:	n/a	n/a
50	E2F6	chr20:25370907-25371902	K562	blood:	n/a	chr20:25371511-25371520

No.	Distal block	Cell Line	Cell type
1	chr1:57110843..57111363-chr20:25371274..25371823,2	HCT-116	colon:
2	chr20:25279948..25282462-chr20:25371337..25373075,2	MCF-7	breast:
3	chr20:25175542..25177840-chr20:25370513..25373072,2	MCF-7	breast:
4	chr20:25371188..25372153-chr7:107220709..107221225,2	NB4	blood:
5	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
6	chr20:25316023..25323524-chr20:25367529..25373124,12	MCF-7	breast:
7	chr20:25347572..25351720-chr20:25369390..25373253,5	MCF-7	breast:
8	chr20:25290481..25292963-chr20:25369877..25371974,2	MCF-7	breast:
9	chr20:25274373..25276866-chr20:25369511..25371754,2	K562	blood:
10	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:
11	chr13:21871962..21872942-chr20:25371307..25371996,2	HCT-116	colon:

Variant related genes	Relation type
ABHD12	TF binding region
ENSG00000101003	Chromatin interaction
ENSG00000075790	Chromatin interaction
ENSG00000100997	Chromatin interaction
ENSG00000162407	Chromatin interaction
ENSG00000100994	Chromatin interaction
ENSG00000227379	Chromatin interaction
ENSG00000162409	Chromatin interaction
ENSG00000233325	Chromatin interaction
ENSG00000197586	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	chr20:25370000-25372000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:25370000-25372000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr20:25370000-25372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:25370000-25372000	Active TSS	Brain Cingulate Gyrus	brain
17	chr20:25370000-25372000	Active TSS	Esophagus	oesophagus
18	chr20:25370000-25372200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:25370000-25372400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr20:25370000-25372400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr20:25370000-25372400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr20:25370000-25372400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr20:25370000-25372400	Active TSS	Brain Germinal Matrix	brain
24	chr20:25370200-25371800	Active TSS	Gastric	stomach
25	chr20:25370200-25371800	Active TSS	Lung	lung
26	chr20:25370200-25372000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr20:25370200-25372000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr20:25370200-25372000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:25370200-25372000	Active TSS	Brain Hippocampus Middle	brain
30	chr20:25370200-25372000	Active TSS	Brain Substantia Nigra	brain
31	chr20:25370200-25372000	Active TSS	Fetal Intestine Large	intestine
32	chr20:25370200-25372000	Active TSS	Left Ventricle	heart
33	chr20:25370200-25372000	Active TSS	Ovary	ovary
34	chr20:25370200-25372000	Active TSS	HSMM	muscle
35	chr20:25370200-25372200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:25370200-25372200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr20:25370200-25372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr20:25370200-25372200	Active TSS	Fetal Intestine Small	intestine
39	chr20:25370200-25372200	Active TSS	Fetal Lung	lung
40	chr20:25370200-25372200	Active TSS	Fetal Muscle Trunk	muscle
41	chr20:25370200-25372200	Active TSS	Fetal Muscle Leg	muscle
42	chr20:25370200-25372400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr20:25370200-25372400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr20:25370200-25372400	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr20:25370200-25372400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:25370200-25372400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr20:25370200-25372400	Active TSS	Fetal Thymus	thymus
48	chr20:25370400-25371400	Active TSS	Small Intestine	intestine
49	chr20:25370400-25371600	Weak transcription	Fetal Brain Male	brain
50	chr20:25370400-25371800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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