Variant report

Variant	rs57918703
Chromosome Location	chr20:25203762-25203763
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	POLR2A	chr20:25203196-25204271	HepG2	liver:	n/a	n/a
2	JUN	chr20:25203762-25204313	K562	blood:	n/a	chr20:25204130-25204143 chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204008-25204019
3	POLR2A	chr20:25203749-25204230	Hela-S3	cervix:	n/a	n/a
4	KAP1	chr20:25203720-25204329	U2OS	brain:	n/a	n/a
5	MYC	chr20:25203363-25204243	NB4	blood:	n/a	chr20:25203652-25203662
6	RAD21	chr20:25203754-25204242	HepG2	liver:	n/a	chr20:25203949-25203962
7	TCF12	chr20:25203678-25204468	A549	lung:	n/a	chr20:25203915-25203925
8	MXI1	chr20:25203176-25204426	IMR90	lung:	n/a	n/a
9	MAX	chr20:25203744-25204403	SK-N-SH	brain:	n/a	n/a
10	KAP1	chr20:25203761-25204312	HEK293	kidney:	n/a	n/a
11	MYC	chr20:25203704-25204264	K562	blood:	n/a	n/a
12	RAD21	chr20:25203730-25204336	IMR90	lung:	n/a	chr20:25203949-25203962
13	TCF12	chr20:25203703-25204282	ECC-1	luminal epithelium:	n/a	chr20:25203915-25203925
14	JUND	chr20:25203658-25204441	SK-N-SH	brain:	n/a	chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204005-25204016 chr20:25204008-25204019
15	TCF12	chr20:25203623-25204478	SK-N-SH	brain:	n/a	chr20:25203915-25203925 chr20:25203649-25203659
16	POLR2A	chr20:25203725-25204280	HCT-116	colon:	n/a	n/a
17	SP1	chr20:25203637-25204341	HCT-116	colon:	n/a	chr20:25203658-25203667 chr20:25203659-25203668 chr20:25203654-25203668 chr20:25203657-25203669 chr20:25203657-25203669 chr20:25203658-25203668
18	RAD21	chr20:25203646-25204213	MCF-7	breast:	n/a	chr20:25203949-25203962 chr20:25203655-25203665
19	SP1	chr20:25203673-25204333	A549	lung:	n/a	n/a
20	REST	chr20:25203675-25204357	A549	lung:	n/a	n/a
21	RAD21	chr20:25203684-25204411	A549	lung:	n/a	chr20:25203949-25203962
22	ELF1	chr20:25203715-25204238	K562	blood:	n/a	n/a
23	RAD21	chr20:25203722-25204299	A549	lung:	n/a	chr20:25203949-25203962
24	MAX	chr20:25203368-25204269	NB4	blood:	n/a	chr20:25203652-25203662
25	JUND	chr20:25203751-25204351	K562	blood:	n/a	chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204005-25204016 chr20:25204008-25204019
26	MXI1	chr20:25203728-25204176	HepG2	liver:	n/a	n/a
27	JUN	chr20:25203679-25204370	K562	blood:	n/a	chr20:25204130-25204143 chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204008-25204019
28	RCOR1	chr20:25203307-25204475	IMR90	lung:	n/a	n/a
29	MYC	chr20:25203759-25204053	MCF-7	breast:	n/a	n/a
30	MAX	chr20:25203361-25204262	K562	blood:	n/a	chr20:25203652-25203662
31	JUND	chr20:25203739-25204338	A549	lung:	n/a	chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204005-25204016 chr20:25204008-25204019
32	SP1	chr20:25203669-25204381	A549	lung:	n/a	n/a
33	POLR2A	chr20:25201546-25204225	A549	lung:	n/a	n/a
34	JUND	chr20:25203693-25204344	A549	lung:	n/a	chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204005-25204016 chr20:25204008-25204019
35	GATA1	chr20:25203748-25204434	K562	blood:	n/a	chr20:25204032-25204045
36	JUND	chr20:25203652-25204439	HCT-116	colon:	n/a	chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204005-25204016 chr20:25204008-25204019
37	MXI1	chr20:25203732-25204142	Hela-S3	cervix:	n/a	n/a
38	MAX	chr20:25203607-25204355	A549	lung:	n/a	chr20:25203652-25203662
39	NR3C1	chr20:25203728-25204275	A549	lung:	n/a	chr20:25204006-25204015 chr20:25204007-25204016
40	FOXA2	chr20:25203580-25204189	A549	lung:	n/a	n/a
41	MAX	chr20:25203710-25204327	ECC-1	luminal epithelium:	n/a	n/a
42	CBX3	chr20:25203745-25204285	K562	blood:	n/a	n/a
43	RAD21	chr20:25203697-25204232	MCF-7	breast:	n/a	chr20:25203949-25203962
44	POLR2A	chr20:25203761-25204354	U87	brain:	n/a	n/a
45	POLR2A	chr20:25203647-25204291	PANC-1	pancreas:	n/a	n/a
46	TEAD4	chr20:25203625-25204328	K562	blood:	n/a	n/a
47	JUND	chr20:25203719-25204462	SK-N-SH	brain:	n/a	chr20:25204005-25204017 chr20:25204007-25204015 chr20:25204005-25204016 chr20:25204008-25204019
48	GATA3	chr20:25203660-25204429	SK-N-SH	brain:	n/a	chr20:25204032-25204045
49	MAX	chr20:25203641-25204285	MCF-7	breast:	n/a	chr20:25203652-25203662
50	POLR2A	chr20:25203733-25204211	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25200007..25207026-chr20:25227086..25230373,11	MCF-7	breast:
2	chr20:25203499..25204385-chr20:25227516..25228200,3	MCF-7	breast:
3	chr20:25202638..25204981-chr20:25290392..25292529,2	MCF-7	breast:
4	chr20:25173813..25179807-chr20:25203379..25207002,9	MCF-7	breast:
5	chr20:25202506..25206898-chr20:25226343..25231297,7	MCF-7	breast:

Variant related genes	Relation type
ENTPD6	TF binding region
ENSG00000100994	Chromatin interaction
ENSG00000197586	Chromatin interaction
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11087514	1.00[AMR][1000 genomes]
rs56964222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57167788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57284766	1.00[AMR][1000 genomes]
rs57286322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57734297	1.00[AMR][1000 genomes]
rs57822703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57974728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58577156	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58828776	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59001189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59002519	1.00[AMR][1000 genomes]
rs59107453	1.00[AMR][1000 genomes]
rs59172682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59319689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59512557	0.83[AMR][1000 genomes]
rs59894298	1.00[AMR][1000 genomes]
rs60423719	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61446016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7261761	1.00[AMR][1000 genomes]
rs7265940	1.00[AMR][1000 genomes]
rs7266057	1.00[AMR][1000 genomes]
rs7272247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7272899	1.00[AMR][1000 genomes]
rs8124309	0.83[AMR][1000 genomes]
rs8126155	1.00[AMR][1000 genomes]
rs9784192	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25178400-25203800	Weak transcription	Small Intestine	intestine
2	chr20:25178400-25203800	Weak transcription	Hela-S3	cervix
3	chr20:25178600-25212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr20:25180000-25207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:25190200-25206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr20:25190400-25205200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:25190400-25207200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr20:25190400-25207200	Strong transcription	Fetal Stomach	stomach
9	chr20:25190400-25207200	Strong transcription	Ovary	ovary
10	chr20:25190600-25207000	Strong transcription	Fetal Brain Female	brain
11	chr20:25190600-25207200	Strong transcription	Brain Germinal Matrix	brain
12	chr20:25190600-25208400	Strong transcription	Thymus	Thymus
13	chr20:25191000-25203800	Weak transcription	HUVEC	blood vessel
14	chr20:25191600-25204200	Strong transcription	Brain Angular Gyrus	brain
15	chr20:25193400-25210800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr20:25196800-25210400	Weak transcription	GM12878-XiMat	blood
17	chr20:25197200-25208000	Weak transcription	Primary B cells from cord blood	blood
18	chr20:25197400-25207400	Weak transcription	Fetal Brain Male	brain
19	chr20:25197400-25207400	Weak transcription	NHDF-Ad	bronchial
20	chr20:25198000-25214000	Weak transcription	Fetal Lung	lung
21	chr20:25198400-25212200	Enhancers	Fetal Heart	heart
22	chr20:25198800-25207200	Genic enhancers	Right Ventricle	heart
23	chr20:25199000-25212600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr20:25199200-25207400	Weak transcription	Psoas Muscle	Psoas
25	chr20:25199200-25208600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:25199200-25210600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr20:25199200-25212000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr20:25199400-25203800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr20:25199400-25210600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr20:25199600-25206000	Weak transcription	Aorta	Aorta
31	chr20:25200000-25204000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:25200000-25204400	Genic enhancers	Fetal Muscle Trunk	muscle
33	chr20:25200200-25204200	Genic enhancers	Fetal Muscle Leg	muscle
34	chr20:25200200-25207400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr20:25200800-25203800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr20:25201000-25204800	Enhancers	Left Ventricle	heart
37	chr20:25201200-25204400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr20:25201200-25207400	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr20:25201600-25203800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr20:25201600-25204400	Weak transcription	Colonic Mucosa	Colon
41	chr20:25201600-25208200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr20:25201800-25205600	Strong transcription	Pancreas	Pancrea
43	chr20:25201800-25205800	Weak transcription	Brain Substantia Nigra	brain
44	chr20:25201800-25207000	Strong transcription	Lung	lung
45	chr20:25202000-25203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr20:25202000-25203800	Enhancers	A549	lung
47	chr20:25202000-25204000	Strong transcription	Rectal Smooth Muscle	rectum
48	chr20:25202000-25204400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr20:25202000-25205200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr20:25202000-25207200	Strong transcription	Rectal Mucosa Donor 29	rectum

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