Variant report

Variant	rs6115142
Chromosome Location	chr20:25291385-25291386
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	NR3C1	chr20:25289209-25291557	A549	lung:	n/a	chr20:25289780-25289793 chr20:25290452-25290459 chr20:25289743-25289757 chr20:25291177-25291194 chr20:25291519-25291533 chr20:25290547-25290554 chr20:25289542-25289555 chr20:25291179-25291193
2	EP300	chr20:25289824-25292233	SK-N-SH	brain:	n/a	chr20:25291160-25291170
3	PBX3	chr20:25289648-25291612	A549	lung:	n/a	n/a
4	SP1	chr20:25289398-25292091	A549	lung:	n/a	chr20:25290306-25290318 chr20:25290412-25290425 chr20:25291245-25291259 chr20:25290606-25290620
5	TEAD4	chr20:25290634-25291552	HepG2	liver:	n/a	n/a
6	CBX3	chr20:25290917-25291530	K562	blood:	n/a	n/a
7	BCL3	chr20:25289507-25291993	A549	lung:	n/a	chr20:25291542-25291551 chr20:25291513-25291522 chr20:25290811-25290824
8	EP300	chr20:25290832-25291448	HepG2	liver:	n/a	chr20:25291160-25291170
9	CREB1	chr20:25290920-25291475	A549	lung:	n/a	n/a
10	POLR2A	chr20:25290666-25291812	PFSK-1	brain:	n/a	n/a
11	TCF12	chr20:25289166-25292364	A549	lung:	n/a	chr20:25289495-25289502 chr20:25292254-25292264 chr20:25291161-25291170 chr20:25290813-25290823
12	MAZ	chr20:25290945-25291412	GM12878	blood:	n/a	n/a
13	RCOR1	chr20:25290042-25291648	HepG2	liver:	n/a	n/a
14	ZNF143	chr20:25291007-25291489	GM12878	blood:	n/a	n/a
15	RUNX3	chr20:25291373-25291805	GM12878	blood:	n/a	n/a
16	FOSL2	chr20:25290762-25291483	MCF-7	breast:	n/a	n/a
17	IKZF1	chr20:25291302-25291859	GM12878	blood:	n/a	n/a
18	MXI1	chr20:25290961-25291843	GM12878	blood:	n/a	n/a
19	GABPA	chr20:25290652-25291385	A549	lung:	n/a	n/a
20	GATA2	chr20:25290610-25291392	K562	blood:	n/a	n/a
21	SP1	chr20:25289446-25292040	A549	lung:	n/a	chr20:25290306-25290318 chr20:25290412-25290425 chr20:25291245-25291259 chr20:25290606-25290620
22	POLR2A	chr20:25291100-25291428	GM12878	blood:	n/a	n/a
23	MAFF	chr20:25290145-25291697	HepG2	liver:	n/a	chr20:25291154-25291172
24	POLR2A	chr20:25291201-25291537	HepG2	liver:	n/a	n/a
25	FOXA1	chr20:25290845-25291775	HepG2	liver:	n/a	n/a
26	TCF12	chr20:25289897-25291401	A549	lung:	n/a	chr20:25291161-25291170 chr20:25290813-25290823
27	JUN	chr20:25290042-25291423	K562	blood:	n/a	chr20:25290257-25290271
28	RAD21	chr20:25291002-25291403	GM12878	blood:	n/a	n/a
29	ATF3	chr20:25289913-25291387	A549	lung:	n/a	n/a
30	FOSL1	chr20:25289470-25291525	HCT-116	colon:	n/a	chr20:25289710-25289720 chr20:25289712-25289723 chr20:25289711-25289718 chr20:25289711-25289719 chr20:25289711-25289719 chr20:25290257-25290271
31	GATA3	chr20:25289364-25292231	A549	lung:	n/a	chr20:25291544-25291554
32	FOSL2	chr20:25289511-25291556	HepG2	liver:	n/a	chr20:25289710-25289720 chr20:25289712-25289723 chr20:25289711-25289718 chr20:25289711-25289719 chr20:25289711-25289719 chr20:25290257-25290271
33	JUND	chr20:25290041-25291749	HepG2	liver:	n/a	chr20:25291097-25291108 chr20:25290257-25290271
34	FOSL2	chr20:25290764-25291506	A549	lung:	n/a	n/a
35	SIN3AK20	chr20:25290867-25291385	PFSK-1	brain:	n/a	n/a
36	BRCA1	chr20:25291192-25291404	GM12878	blood:	n/a	n/a
37	BHLHE40	chr20:25290072-25291508	K562	blood:	n/a	chr20:25290802-25290818
38	POLR2A	chr20:25289166-25292265	A549	lung:	n/a	n/a
39	FOXA2	chr20:25290830-25291479	A549	lung:	n/a	n/a
40	STAT3	chr20:25290970-25291701	GM12878	blood:	n/a	chr20:25291080-25291091 chr20:25291519-25291530 chr20:25291238-25291250
41	POLR2A	chr20:25290233-25291486	K562	blood:	n/a	n/a
42	NR2F2	chr20:25290520-25291466	K562	blood:	n/a	n/a
43	EP300	chr20:25290760-25291421	HepG2	liver:	n/a	chr20:25291160-25291170
44	SIN3AK20	chr20:25289925-25292263	MCF-7	breast:	n/a	n/a
45	SMC3	chr20:25290902-25291661	GM12878	blood:	n/a	n/a
46	EP300	chr20:25289381-25292172	A549	lung:	n/a	chr20:25291160-25291170 chr20:25289542-25289555
47	MAFK	chr20:25290441-25291578	K562	blood:	n/a	chr20:25291150-25291170 chr20:25291152-25291168
48	HDAC2	chr20:25290516-25291485	MCF-7	breast:	n/a	chr20:25290545-25290564 chr20:25291161-25291170
49	RCOR1	chr20:25290489-25291491	K562	blood:	n/a	n/a
50	FOSL2	chr20:25289448-25291968	A549	lung:	n/a	chr20:25289710-25289720 chr20:25289712-25289723 chr20:25289711-25289718 chr20:25289711-25289719 chr20:25289711-25289719 chr20:25290257-25290271

No.	Distal block	Cell Line	Cell type
1	chr20:25290481..25292963-chr20:25369877..25371974,2	MCF-7	breast:
2	chr20:25280437..25282197-chr20:25289729..25292271,3	K562	blood:
3	chr20:25202638..25204981-chr20:25290392..25292529,2	MCF-7	breast:

Variant related genes	Relation type
ABHD12	TF binding region
ENSG00000197586	Chromatin interaction
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56059261	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56251619	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56291736	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6107016	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6107023	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6107024	0.95[EUR][1000 genomes]
rs6107039	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6115092	0.81[EUR][1000 genomes]
rs6115115	0.88[EUR][1000 genomes]
rs6115130	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6115145	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6115151	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6115154	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6115177	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6115178	0.94[AMR][1000 genomes]
rs6115187	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs66638809	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73101732	0.88[EUR][1000 genomes]
rs73107411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73107474	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8119343	0.81[AFR][1000 genomes];0.85[EUR][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	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
17	esv1798601	chr20:25250122-25305949	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6115142	ABHD12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25230400-25291600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:25256000-25299400	Weak transcription	Fetal Brain Male	brain
3	chr20:25278800-25305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:25284600-25304000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:25285600-25291600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr20:25286800-25292200	Strong transcription	Dnd41	blood
7	chr20:25288200-25291400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr20:25288400-25294400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:25289200-25292600	Enhancers	Stomach Mucosa	stomach
10	chr20:25289200-25304600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr20:25289400-25292200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:25289400-25292600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr20:25289400-25302400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr20:25289600-25292200	Flanking Active TSS	A549	lung
15	chr20:25289600-25292400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:25289600-25293000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr20:25289800-25291600	Flanking Active TSS	Hela-S3	cervix
18	chr20:25289800-25292200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr20:25289800-25292200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr20:25289800-25292200	Flanking Active TSS	Osteobl	bone
21	chr20:25289800-25292600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr20:25289800-25299400	Weak transcription	Brain Germinal Matrix	brain
23	chr20:25290000-25291600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr20:25290000-25292200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr20:25290000-25292200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr20:25290000-25292200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr20:25290000-25292200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr20:25290000-25292200	Enhancers	HUVEC	blood vessel
29	chr20:25290000-25292400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:25290000-25292400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr20:25290000-25292400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr20:25290000-25292400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr20:25290000-25292400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr20:25290000-25292600	Enhancers	Fetal Intestine Small	intestine
35	chr20:25290000-25294400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr20:25290200-25292000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr20:25290200-25292000	Flanking Active TSS	HepG2	liver
38	chr20:25290200-25292000	Flanking Active TSS	HSMM	muscle
39	chr20:25290200-25292200	Enhancers	Right Ventricle	heart
40	chr20:25290200-25292200	Flanking Active TSS	HSMMtube	muscle
41	chr20:25290200-25292400	Enhancers	Esophagus	oesophagus
42	chr20:25290200-25292400	Enhancers	Left Ventricle	heart
43	chr20:25290200-25292400	Enhancers	Lung	lung
44	chr20:25290200-25292600	Enhancers	Placenta	Placenta
45	chr20:25290200-25292800	Enhancers	Fetal Thymus	thymus
46	chr20:25290200-25293000	Enhancers	Spleen	Spleen
47	chr20:25290200-25297000	Weak transcription	Fetal Brain Female	brain
48	chr20:25290400-25291800	Enhancers	Pancreas	Pancrea
49	chr20:25290400-25292000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr20:25290400-25292000	Flanking Active TSS	NH-A	brain

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