Variant report

Variant	rs56757167
Chromosome Location	chr21:46198693-46198694
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	SMC3	chr21:46198396-46198793	HepG2	liver:	n/a	n/a
2	JUND	chr21:46198425-46199004	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
3	ARID3A	chr21:46198332-46198817	HepG2	liver:	n/a	n/a
4	KAP1	chr21:46198409-46198762	U2OS	brain:	n/a	chr21:46198651-46198660
5	FOSL1	chr21:46198329-46199007	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198658
6	FOXA1	chr21:46198415-46198827	HepG2	liver:	n/a	n/a
7	JUND	chr21:46198142-46198850	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
8	MAX	chr21:46198032-46198873	HCT-116	colon:	n/a	chr21:46198165-46198175 chr21:46198650-46198659
9	MYBL2	chr21:46198354-46198934	HepG2	liver:	n/a	n/a
10	JUND	chr21:46198435-46198838	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
11	CUX1	chr21:46198423-46198792	K562	blood:	n/a	n/a
12	GATA3	chr21:46198371-46198862	MCF-7	breast:	n/a	chr21:46198648-46198657 chr21:46198419-46198432
13	MAFK	chr21:46198560-46198782	HepG2	liver:	n/a	chr21:46198651-46198660
14	SP1	chr21:46198245-46198890	HCT-116	colon:	n/a	n/a
15	RXRA	chr21:46198496-46198842	HepG2	liver:	n/a	n/a
16	POLR2A	chr21:46198479-46198788	HCT-116	colon:	n/a	n/a
17	CEBPB	chr21:46198547-46198718	HepG2	liver:	n/a	chr21:46198566-46198579 chr21:46198566-46198577
18	EP300	chr21:46198460-46198749	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198567-46198581
19	CEBPB	chr21:46198131-46198712	K562	blood:	n/a	chr21:46198566-46198579 chr21:46198566-46198577
20	CEBPB	chr21:46198135-46198786	HepG2	liver:	n/a	chr21:46198566-46198579 chr21:46198566-46198577
21	JUND	chr21:46198307-46198815	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
22	JUND	chr21:46198192-46198822	K562	blood:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
23	FOSL2	chr21:46198404-46198843	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198660 chr21:46198649-46198658
24	FOSL2	chr21:46198407-46198835	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198660 chr21:46198649-46198658
25	MAFF	chr21:46198530-46198746	HepG2	liver:	n/a	n/a
26	MBD4	chr21:46198506-46198877	HepG2	liver:	n/a	n/a
27	NFIC	chr21:46198466-46198942	HepG2	liver:	n/a	n/a
28	CEBPB	chr21:46198010-46198925	HCT-116	colon:	n/a	chr21:46198566-46198579 chr21:46198566-46198577
29	JUN	chr21:46198465-46198840	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198658
30	MXI1	chr21:46198562-46198825	HepG2	liver:	n/a	n/a
31	FOXA2	chr21:46198483-46198837	HepG2	liver:	n/a	n/a
32	POLR2A	chr21:46198245-46198730	K562	blood:	n/a	n/a
33	KAP1	chr21:46198212-46198733	HEK293	kidney:	n/a	chr21:46198651-46198660
34	ELF1	chr21:46198522-46198817	HepG2	liver:	n/a	n/a
35	JUND	chr21:46198533-46198798	HepG2	liver:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198648-46198659 chr21:46198649-46198658
36	CEBPB	chr21:46198038-46198903	HCT-116	colon:	n/a	chr21:46198566-46198579 chr21:46198566-46198577
37	FOXA1	chr21:46198400-46198832	HepG2	liver:	n/a	n/a
38	FOSL1	chr21:46198315-46198979	HCT-116	colon:	n/a	chr21:46198650-46198659 chr21:46198648-46198660 chr21:46198649-46198658

No.	Distal block	Cell Line	Cell type
1	chr21:46185600..46187229-chr21:46198465..46200138,2	MCF-7	breast:
2	chr21:46185007..46187777-chr21:46197158..46201208,5	MCF-7	breast:
3	chr21:46198042..46200426-chr21:46201214..46204112,4	K562	blood:
4	chr21:46197899..46200792-chr21:46212721..46215023,2	MCF-7	breast:
5	chr21:46191363..46195338-chr21:46195868..46201575,8	MCF-7	breast:
6	chr21:46191842..46194326-chr21:46197473..46199035,2	K562	blood:
7	chr21:46181840..46185418-chr21:46198665..46202269,4	MCF-7	breast:
8	chr21:46197791..46202676-chr21:46204066..46207240,6	MCF-7	breast:
9	chr21:46196931..46199903-chr21:46221899..46224131,2	K562	blood:
10	chr21:45928563..45930238-chr21:46198309..46199884,2	MCF-7	breast:

Variant related genes	Relation type
UBE2G2	TF binding region
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11911014	1.00[EUR][1000 genomes]
rs11911580	1.00[EUR][1000 genomes]
rs11911583	1.00[EUR][1000 genomes]
rs13433443	1.00[EUR][1000 genomes]
rs35934209	1.00[EUR][1000 genomes]
rs4431026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56802521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58011992	1.00[AMR][1000 genomes]
rs59567152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60155341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60739888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61125902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61710634	1.00[AMR][1000 genomes]
rs9975401	1.00[EUR][1000 genomes]
rs9976044	1.00[EUR][1000 genomes]
rs9984211	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr21:46185800-46199600	Weak transcription	Stomach Mucosa	stomach
2	chr21:46186200-46199400	Weak transcription	Right Atrium	heart
3	chr21:46187000-46213000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:46187800-46199000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:46187800-46206200	Strong transcription	Fetal Thymus	thymus
6	chr21:46188000-46198800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:46188000-46199000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:46188000-46201600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr21:46188000-46203000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr21:46188000-46203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:46188000-46208000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:46188200-46198800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:46188200-46199000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:46188200-46199800	Strong transcription	Primary T cells from cord blood	blood
15	chr21:46188200-46201600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:46188400-46199400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:46188600-46200200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr21:46188600-46201600	Strong transcription	Fetal Stomach	stomach
19	chr21:46188600-46208000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr21:46189000-46199600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:46189000-46201400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr21:46189200-46203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:46189400-46198800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:46189400-46198800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:46189600-46198800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:46189600-46199000	Strong transcription	Left Ventricle	heart
28	chr21:46189600-46199200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr21:46189600-46199600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:46189600-46199800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr21:46189600-46201800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr21:46189600-46203600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr21:46189600-46207800	Strong transcription	Dnd41	blood
34	chr21:46189800-46198800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr21:46190600-46199400	Weak transcription	Fetal Heart	heart
36	chr21:46190800-46199200	Strong transcription	Osteobl	bone
37	chr21:46190800-46209600	Weak transcription	Fetal Brain Male	brain
38	chr21:46191400-46199400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr21:46192600-46198800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr21:46192800-46198800	Strong transcription	HSMM	muscle
41	chr21:46192800-46200400	Strong transcription	A549	lung
42	chr21:46193400-46212600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr21:46193800-46199000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr21:46193800-46199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:46193800-46206000	Weak transcription	Brain Hippocampus Middle	brain
46	chr21:46193800-46212800	Weak transcription	Psoas Muscle	Psoas
47	chr21:46194200-46200400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr21:46194800-46203200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr21:46195000-46200000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:46195000-46211200	Weak transcription	Brain Inferior Temporal Lobe	brain

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