Variant report

Variant	rs2237980
Chromosome Location	chr11:17461329-17461330
allele	C/G/T
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	RCOR1	chr11:17461010-17461393	HepG2	liver:	n/a	n/a
2	FOSL2	chr11:17460876-17461332	A549	lung:	n/a	chr11:17461156-17461168
3	KAP1	chr11:17460362-17461490	HEK293	kidney:	n/a	n/a
4	CEBPD	chr11:17461122-17461356	HepG2	liver:	n/a	n/a
5	USF1	chr11:17461093-17461405	HepG2	liver:	n/a	n/a
6	NR3C1	chr11:17460859-17461333	A549	lung:	n/a	n/a
7	FOXA1	chr11:17460913-17461424	HepG2	liver:	n/a	n/a
8	MAX	chr11:17460821-17461538	A549	lung:	n/a	chr11:17461145-17461155
9	FOXA2	chr11:17460751-17461741	HepG2	liver:	n/a	n/a
10	HDAC2	chr11:17460965-17461422	MCF-7	breast:	n/a	chr11:17461220-17461228 chr11:17461169-17461183 chr11:17461207-17461216
11	NR2F2	chr11:17460775-17461439	MCF-7	breast:	n/a	n/a
12	HDAC2	chr11:17460859-17461496	MCF-7	breast:	n/a	chr11:17461220-17461228 chr11:17461169-17461183 chr11:17461207-17461216
13	BCL3	chr11:17460846-17461380	A549	lung:	n/a	chr11:17461263-17461272
14	USF1	chr11:17461092-17461513	A549	lung:	n/a	n/a
15	ZNF217	chr11:17460983-17461337	MCF-7	breast:	n/a	n/a
16	FOXA1	chr11:17460859-17461484	HepG2	liver:	n/a	n/a
17	SP1	chr11:17460869-17461488	A549	lung:	n/a	chr11:17461367-17461374 chr11:17461146-17461159
18	CEBPD	chr11:17461063-17461341	HepG2	liver:	n/a	n/a
19	FOXA2	chr11:17460938-17461391	HepG2	liver:	n/a	n/a
20	EP300	chr11:17460947-17461370	HepG2	liver:	n/a	chr11:17461193-17461203 chr11:17461206-17461216
21	TCF12	chr11:17460798-17461640	A549	lung:	n/a	chr11:17461207-17461216
22	FOXA1	chr11:17460917-17461497	HepG2	liver:	n/a	n/a
23	FOXA2	chr11:17460781-17461554	A549	lung:	n/a	n/a
24	USF1	chr11:17461165-17461432	H1-hESC	embryonic stem cell:	n/a	n/a
25	BHLHE40	chr11:17461054-17461504	HepG2	liver:	n/a	n/a
26	MAZ	chr11:17461005-17461357	HepG2	liver:	n/a	chr11:17461145-17461155
27	KAP1	chr11:17460714-17461386	U2OS	brain:	n/a	n/a
28	FOSL2	chr11:17460924-17461405	HepG2	liver:	n/a	chr11:17461156-17461168
29	FOXA1	chr11:17460838-17461519	HepG2	liver:	n/a	n/a
30	HDAC2	chr11:17460912-17461381	HepG2	liver:	n/a	chr11:17461220-17461228 chr11:17461169-17461183 chr11:17461207-17461216
31	SP1	chr11:17460887-17461376	HepG2	liver:	n/a	chr11:17461367-17461374 chr11:17461146-17461159
32	NR3C1	chr11:17460856-17461446	A549	lung:	n/a	n/a
33	USF1	chr11:17461132-17461395	A549	lung:	n/a	n/a
34	SP1	chr11:17460883-17461466	A549	lung:	n/a	chr11:17461367-17461374 chr11:17461146-17461159
35	EP300	chr11:17460934-17461341	HepG2	liver:	n/a	chr11:17461193-17461203 chr11:17461206-17461216
36	HDAC2	chr11:17460928-17461362	HepG2	liver:	n/a	chr11:17461220-17461228 chr11:17461169-17461183 chr11:17461207-17461216
37	BCL3	chr11:17460964-17461456	A549	lung:	n/a	chr11:17461263-17461272
38	USF1	chr11:17461128-17461410	H1-hESC	embryonic stem cell:	n/a	n/a
39	MBD4	chr11:17460920-17461377	HepG2	liver:	n/a	n/a
40	NFIC	chr11:17461076-17461347	HepG2	liver:	n/a	n/a
41	TCF7L2	chr11:17460937-17461373	HEK293	kidney:	n/a	n/a
42	MYBL2	chr11:17460884-17461463	HepG2	liver:	n/a	n/a
43	FOXA2	chr11:17460937-17461541	A549	lung:	n/a	n/a
44	RXRA	chr11:17460968-17461365	HepG2	liver:	n/a	chr11:17461250-17461264
45	USF1	chr11:17461014-17461484	A549	lung:	n/a	n/a
46	NR3C1	chr11:17460883-17461369	A549	lung:	n/a	n/a
47	GATA3	chr11:17460796-17461450	MCF-7	breast:	n/a	chr11:17460929-17460939
48	MAX	chr11:17460864-17461392	MCF-7	breast:	n/a	chr11:17461145-17461155
49	GATA3	chr11:17460876-17461502	A549	lung:	n/a	chr11:17460929-17460939
50	SIN3AK20	chr11:17460782-17461574	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17459219..17462653-chr11:17463041..17467220,4	K562	blood:

Variant related genes	Relation type
SDHCP4	TF binding region
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10400389	0.87[EUR][1000 genomes]
rs10766399	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10766400	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10766401	0.88[EUR][1000 genomes]
rs10766402	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10766403	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10832788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832789	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024290	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024295	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11821723	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786125	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12794627	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12803384	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17775256	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2040653	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2057661	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2073585	0.95[EUR][1000 genomes]
rs2073586	0.92[EUR][1000 genomes]
rs2073587	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074319	0.84[AMR][1000 genomes]
rs2237973	0.86[EUR][1000 genomes]
rs2237976	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237977	0.91[EUR][1000 genomes]
rs2237978	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237979	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2283259	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2283261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301703	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3781950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815066	0.80[AMR][1000 genomes]
rs3819517	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3819519	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4148603	0.90[EUR][1000 genomes]
rs4148606	0.86[EUR][1000 genomes]
rs4148609	0.80[AMR][1000 genomes]
rs4148610	0.87[AMR][1000 genomes]
rs4459286	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6486370	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7105391	0.81[AMR][1000 genomes]
rs7117162	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs757109	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932043	0.85[ASN][1000 genomes]
rs7934185	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7943461	0.87[AMR][1000 genomes]
rs7947326	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7950189	0.85[ASN][1000 genomes]
rs886291	0.81[AMR][1000 genomes]
rs886292	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2237980	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17443800-17462600	Weak transcription	Brain Substantia Nigra	brain
2	chr11:17454000-17464000	Weak transcription	Brain Anterior Caudate	brain
3	chr11:17454200-17465800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:17456000-17469200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:17457000-17467200	Weak transcription	Fetal Brain Male	brain
6	chr11:17457200-17465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:17457400-17464600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17458800-17462000	Enhancers	Fetal Thymus	thymus
9	chr11:17460000-17461400	Enhancers	Dnd41	blood
10	chr11:17460000-17461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:17460200-17462400	Strong transcription	Fetal Brain Female	brain
12	chr11:17460400-17461400	Enhancers	Fetal Intestine Large	intestine
13	chr11:17460400-17461600	Enhancers	Fetal Lung	lung
14	chr11:17460400-17462200	Enhancers	A549	lung
15	chr11:17460600-17461400	Enhancers	Stomach Mucosa	stomach
16	chr11:17460600-17461600	Enhancers	Fetal Intestine Small	intestine
17	chr11:17460800-17461400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:17460800-17461400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:17460800-17461400	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:17460800-17461400	Enhancers	Pancreas	Pancrea
21	chr11:17460800-17461400	Bivalent Enhancer	HepG2	liver
22	chr11:17460800-17461800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr11:17460800-17461800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:17460800-17462000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:17460800-17474000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:17461000-17461600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:17461200-17461600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:17461200-17461600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:17461200-17461800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr11:17461200-17497400	Weak transcription	Gastric	stomach

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