Variant report

Variant	rs6050451
Chromosome Location	chr20:25200845-25200846
allele	A/C
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	CEBPB	chr20:25200626-25201104	HepG2	liver:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
2	CEBPB	chr20:25200503-25201121	A549	lung:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200608-25200616 chr20:25200804-25200817
3	CTCF	chr20:25200820-25201232	K562	blood:	n/a	n/a
4	EP300	chr20:25200707-25200950	HepG2	liver:	n/a	n/a
5	CEBPB	chr20:25200616-25201035	HepG2	liver:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
6	CTCF	chr20:25200777-25201131	HepG2	liver:	n/a	n/a
7	NR3C1	chr20:25200663-25200962	A549	lung:	n/a	chr20:25200834-25200843
8	NR3C1	chr20:25200621-25201003	A549	lung:	n/a	chr20:25200834-25200843
9	CEBPD	chr20:25200672-25201016	HepG2	liver:	n/a	chr20:25200806-25200815
10	CTCF	chr20:25200450-25201319	A549	lung:	n/a	n/a
11	CEBPB	chr20:25200537-25201067	HepG2	liver:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200608-25200616 chr20:25200804-25200817
12	CTCF	chr20:25200840-25200990	NHEK	skin:	n/a	n/a
13	CEBPB	chr20:25200622-25201164	Hela-S3	cervix:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
14	TCF12	chr20:25200777-25201161	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr20:25200618-25201053	A549	lung:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
16	CEBPB	chr20:25200611-25201102	K562	blood:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
17	CEBPB	chr20:25200610-25201087	H1-hESC	embryonic stem cell:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
18	CEBPB	chr20:25200553-25201105	MCF-7	breast:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200608-25200616 chr20:25200804-25200817
19	CTCF	chr20:25200760-25200910	A549	lung:	n/a	n/a
20	CEBPB	chr20:25200703-25201029	HepG2	liver:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
21	CTCF	chr20:25200700-25200850	GM12865	blood:	n/a	n/a
22	CEBPB	chr20:25200448-25201254	A549	lung:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200608-25200616 chr20:25200804-25200817
23	POLR2A	chr20:25200816-25202431	HepG2	liver:	n/a	n/a
24	CEBPB	chr20:25200684-25200943	K562	blood:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
25	CEBPB	chr20:25200549-25201171	K562	blood:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200608-25200616 chr20:25200804-25200817
26	CEBPB	chr20:25200635-25201057	ECC-1	luminal epithelium:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
27	CTCF	chr20:25200827-25201174	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr20:25200695-25201082	H1-hESC	embryonic stem cell:	n/a	n/a
29	NR3C1	chr20:25200590-25201060	A549	lung:	n/a	chr20:25200834-25200843
30	TCF12	chr20:25200837-25201162	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr20:25200618-25201034	IMR90	lung:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200804-25200817
32	CEBPB	chr20:25200596-25200967	ECC-1	luminal epithelium:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200608-25200616 chr20:25200804-25200817
33	CTCF	chr20:25200740-25200890	HAc	cerebellar:	n/a	n/a
34	TCF3	chr20:25200813-25201129	GM12878	blood:	n/a	n/a
35	MAX	chr20:25200841-25201146	K562	blood:	n/a	n/a
36	POLR2A	chr20:25200760-25201332	A549	lung:	n/a	n/a
37	SMC3	chr20:25200766-25201085	HepG2	liver:	n/a	n/a
38	RAD21	chr20:25200781-25201166	HepG2	liver:	n/a	n/a
39	RAD21	chr20:25200775-25201215	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr20:25200565-25201134	MCF-7	breast:	n/a	chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200806-25200815 chr20:25200804-25200815 chr20:25200608-25200616 chr20:25200804-25200817
41	CTCF	chr20:25200816-25201115	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr20:25200620-25201246	A549	lung:	n/a	n/a
43	RAD21	chr20:25200839-25201159	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25200007..25207026-chr20:25227086..25230373,11	MCF-7	breast:
2	chr20:25199530..25201594-chr20:25205299..25208068,2	MCF-7	breast:
3	chr20:25188229..25190332-chr20:25200782..25202362,2	K562	blood:
4	chr20:25175979..25179968-chr20:25200206..25203711,4	MCF-7	breast:
5	chr20:25200658..25202199-chr20:25202354..25203959,2	MCF-7	breast:
6	chr20:25119622..25120296-chr20:25200777..25201493,2	MCF-7	breast:

Variant related genes	Relation type
ENTPD6	TF binding region
ENSG00000100994	Chromatin interaction
ENSG00000268302	Chromatin interaction
ENSG00000197586	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11907515	1.00[EUR][1000 genomes]
rs2067793	1.00[EUR][1000 genomes]
rs2145125	1.00[EUR][1000 genomes]
rs2180596	1.00[EUR][1000 genomes]
rs2180597	1.00[EUR][1000 genomes]
rs2228978	1.00[EUR][1000 genomes]
rs2387734	1.00[EUR][1000 genomes]
rs28496800	1.00[EUR][1000 genomes]
rs28770021	1.00[EUR][1000 genomes]
rs28881233	1.00[EUR][1000 genomes]
rs34299454	1.00[EUR][1000 genomes]
rs41282340	1.00[EUR][1000 genomes]
rs41304802	1.00[EUR][1000 genomes]
rs41308633	1.00[EUR][1000 genomes]
rs58412968	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58953621	0.83[EUR][1000 genomes]
rs59082275	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6037061	1.00[EUR][1000 genomes]
rs6037064	1.00[EUR][1000 genomes]
rs6037068	1.00[EUR][1000 genomes]
rs6037070	1.00[EUR][1000 genomes]
rs6037071	1.00[EUR][1000 genomes]
rs6037073	1.00[EUR][1000 genomes]
rs6037075	1.00[EUR][1000 genomes]
rs6050449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050457	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050458	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6050461	1.00[EUR][1000 genomes]
rs6050462	1.00[EUR][1000 genomes]
rs6050465	1.00[EUR][1000 genomes]
rs6050473	1.00[EUR][1000 genomes]
rs6050474	1.00[EUR][1000 genomes]
rs6050476	1.00[EUR][1000 genomes]
rs6050478	1.00[EUR][1000 genomes]
rs6050486	1.00[EUR][1000 genomes]
rs6050487	1.00[EUR][1000 genomes]
rs6050488	1.00[EUR][1000 genomes]
rs6050490	1.00[EUR][1000 genomes]
rs6050492	1.00[EUR][1000 genomes]
rs6050493	1.00[EUR][1000 genomes]
rs6050494	1.00[EUR][1000 genomes]
rs6050502	1.00[EUR][1000 genomes]
rs6050503	1.00[EUR][1000 genomes]
rs6050504	1.00[EUR][1000 genomes]
rs6050507	1.00[EUR][1000 genomes]
rs6050508	1.00[EUR][1000 genomes]
rs6050509	1.00[EUR][1000 genomes]
rs6050510	1.00[EUR][1000 genomes]
rs6050511	1.00[EUR][1000 genomes]
rs7263527	1.00[EUR][1000 genomes]
rs7269045	1.00[EUR][1000 genomes]
rs7269484	0.83[AMR][1000 genomes]
rs7273544	1.00[EUR][1000 genomes]
rs7274919	0.83[EUR][1000 genomes]
rs73343076	0.83[EUR][1000 genomes]
rs73347016	0.83[EUR][1000 genomes]
rs73347066	0.83[EUR][1000 genomes]
rs7344105	1.00[EUR][1000 genomes]
rs736358	1.00[EUR][1000 genomes]
rs8116564	1.00[EUR][1000 genomes]
rs8118763	1.00[EUR][1000 genomes]
rs8120268	1.00[EUR][1000 genomes]
rs8123947	0.83[EUR][1000 genomes]
rs8125980	1.00[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	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:122 , 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	chr20:25181800-25202000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr20:25186400-25203200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr20:25189000-25203000	Weak transcription	K562	blood
8	chr20:25190200-25202800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:25190200-25202800	Strong transcription	Fetal Intestine Small	intestine
10	chr20:25190200-25206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr20:25190400-25201000	Strong transcription	HMEC	breast
12	chr20:25190400-25201200	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr20:25190400-25201600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:25190400-25201800	Strong transcription	Adipose Nuclei	Adipose
15	chr20:25190400-25202000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr20:25190400-25202200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:25190400-25202200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:25190400-25202200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr20:25190400-25202200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr20:25190400-25202400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr20:25190400-25202400	Strong transcription	Primary T cells from cord blood	blood
22	chr20:25190400-25202400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr20:25190400-25202600	Strong transcription	Spleen	Spleen
24	chr20:25190400-25202800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr20:25190400-25202800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr20:25190400-25202800	Strong transcription	Brain Cingulate Gyrus	brain
27	chr20:25190400-25202800	Strong transcription	Placenta	Placenta
28	chr20:25190400-25203000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr20:25190400-25203000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:25190400-25203000	Strong transcription	Fetal Intestine Large	intestine
31	chr20:25190400-25203000	Strong transcription	NHLF	lung
32	chr20:25190400-25203200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr20:25190400-25203200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr20:25190400-25203400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr20:25190400-25203400	Strong transcription	Dnd41	blood
36	chr20:25190400-25203600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr20:25190400-25205200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr20:25190400-25207200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr20:25190400-25207200	Strong transcription	Fetal Stomach	stomach
40	chr20:25190400-25207200	Strong transcription	Ovary	ovary
41	chr20:25190600-25202000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:25190600-25202200	Strong transcription	Colon Smooth Muscle	Colon
43	chr20:25190600-25202400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:25190600-25207000	Strong transcription	Fetal Brain Female	brain
45	chr20:25190600-25207200	Strong transcription	Brain Germinal Matrix	brain
46	chr20:25190600-25208400	Strong transcription	Thymus	Thymus
47	chr20:25191000-25203800	Weak transcription	HUVEC	blood vessel
48	chr20:25191600-25203200	Strong transcription	Brain Hippocampus Middle	brain
49	chr20:25191600-25204200	Strong transcription	Brain Angular Gyrus	brain
50	chr20:25192000-25201400	Strong transcription	Gastric	stomach

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