Variant report

Variant	rs58950129
Chromosome Location	chr11:73691114-73691115
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	IKZF1	chr11:73691087-73691717	GM12878	blood:	n/a	n/a
2	CBX3	chr11:73691036-73691633	K562	blood:	n/a	n/a
3	NRF1	chr11:73691073-73691481	GM12878	blood:	n/a	n/a
4	NFYB	chr11:73690921-73691622	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:73690783-73691727	GM12891	blood:	n/a	n/a
6	IRF4	chr11:73690926-73691560	GM12878	blood:	n/a	n/a
7	SPI1	chr11:73690893-73691557	HL-60	blood:	n/a	chr11:73691369-73691378 chr11:73691370-73691377
8	FOXM1	chr11:73690803-73691770	GM12878	blood:	n/a	n/a
9	MYC	chr11:73690989-73691580	NB4	blood:	n/a	chr11:73691345-73691354 chr11:73691429-73691438
10	TBL1XR1	chr11:73691028-73691968	K562	blood:	n/a	n/a
11	POU2F2	chr11:73690950-73692072	GM12878	blood:	n/a	n/a
12	NFIC	chr11:73690868-73691465	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:73690682-73692146	GM12892	blood:	n/a	n/a
14	ATF1	chr11:73691041-73692016	K562	blood:	n/a	n/a
15	ELK1	chr11:73690978-73691554	GM12878	blood:	n/a	n/a
16	MXI1	chr11:73691090-73691600	K562	blood:	n/a	n/a
17	WRNIP1	chr11:73690922-73692874	GM12878	blood:	n/a	n/a
18	MAZ	chr11:73690979-73691518	GM12878	blood:	n/a	chr11:73691345-73691354 chr11:73691429-73691438
19	ZNF143	chr11:73691103-73691925	K562	blood:	n/a	chr11:73691618-73691636
20	RUNX3	chr11:73690811-73691815	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:73690944-73692051	Raji	blood:	n/a	n/a
22	EBF1	chr11:73690985-73691842	GM12878	blood:	n/a	chr11:73691218-73691229 chr11:73691167-73691178
23	YY1	chr11:73690887-73691447	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:73690723-73695117	GM12878	blood:	n/a	n/a
25	RCOR1	chr11:73690991-73691494	K562	blood:	n/a	n/a
26	SPI1	chr11:73691056-73691324	K562	blood:	n/a	n/a
27	POLR2A	chr11:73690936-73695497	HL-60	blood:	n/a	n/a
28	TAF1	chr11:73690866-73691435	GM12878	blood:	n/a	n/a
29	ZNF143	chr11:73691062-73691594	GM12878	blood:	n/a	n/a
30	NFATC1	chr11:73690809-73691700	GM12878	blood:	n/a	n/a
31	CUX1	chr11:73691114-73691472	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:73690904-73691937	GM12892	blood:	n/a	n/a
33	RFX5	chr11:73691023-73691657	GM12878	blood:	n/a	chr11:73691423-73691440 chr11:73691429-73691438 chr11:73691284-73691293 chr11:73691427-73691441
34	MAZ	chr11:73690982-73691613	K562	blood:	n/a	chr11:73691345-73691354 chr11:73691429-73691438
35	SPI1	chr11:73690918-73691493	GM12891	blood:	n/a	chr11:73691369-73691378 chr11:73691370-73691377
36	CCNT2	chr11:73690993-73691367	K562	blood:	n/a	n/a
37	POLR2A	chr11:73690913-73691895	GM12892	blood:	n/a	n/a
38	YY1	chr11:73690966-73691450	GM12878	blood:	n/a	n/a
39	MAX	chr11:73691068-73691950	GM12878	blood:	n/a	chr11:73691345-73691354 chr11:73691429-73691438
40	EP300	chr11:73691014-73691717	GM12878	blood:	n/a	chr11:73691172-73691181
41	POLR2A	chr11:73690701-73692014	GM12891	blood:	n/a	n/a
42	POLR2A	chr11:73690991-73692064	K562	blood:	n/a	n/a
43	NR2F2	chr11:73690799-73692561	K562	blood:	n/a	n/a
44	TAF1	chr11:73691047-73691335	GM12891	blood:	n/a	n/a
45	TBL1XR1	chr11:73690971-73691473	GM12878	blood:	n/a	n/a
46	CHD1	chr11:73690986-73692950	GM12878	blood:	n/a	n/a
47	HCFC1	chr11:73691092-73691305	K562	blood:	n/a	n/a
48	POLR2A	chr11:73690959-73691672	GM12878	blood:	n/a	n/a
49	RELA	chr11:73690964-73692956	GM19099	blood:	n/a	n/a
50	EP300	chr11:73690927-73691461	GM12878	blood:	n/a	chr11:73691172-73691181

No.	Distal block	Cell Line	Cell type
1	chr11:73689346..73691741-chr11:73844746..73846281,2	MCF-7	breast:
2	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
3	chr11:73690232..73696227-chr11:73800984..73805427,5	MCF-7	breast:
4	chr11:73690208..73697157-chr11:73720249..73724103,9	K562	blood:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000175564	Chromatin interaction
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs45453391	1.00[EUR][1000 genomes]
rs45490393	1.00[EUR][1000 genomes]
rs45493400	1.00[EUR][1000 genomes]
rs45504392	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45508598	1.00[EUR][1000 genomes]
rs45516095	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45520037	1.00[EUR][1000 genomes]
rs45537737	1.00[EUR][1000 genomes]
rs45541732	1.00[EUR][1000 genomes]
rs45565136	1.00[EUR][1000 genomes]
rs45567343	1.00[EUR][1000 genomes]
rs45583331	1.00[EUR][1000 genomes]
rs45585032	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45600039	1.00[EUR][1000 genomes]
rs45626332	1.00[EUR][1000 genomes]
rs58670711	1.00[EUR][1000 genomes]
rs60141953	1.00[EUR][1000 genomes]
rs73555983	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	esv1827060	chr11:73670645-73694754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520299	chr11:73684294-73694754	Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
3	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:73684400-73691200	Strong transcription	Fetal Stomach	stomach
5	chr11:73684800-73692600	Weak transcription	Right Atrium	heart
6	chr11:73685000-73691200	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr11:73685000-73691200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:73685000-73691400	Genic enhancers	Fetal Muscle Leg	muscle
9	chr11:73685000-73691600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:73685000-73693000	Weak transcription	NHDF-Ad	bronchial
11	chr11:73685200-73692200	Weak transcription	Small Intestine	intestine
12	chr11:73685400-73691200	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:73685600-73691200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:73685600-73691200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:73685600-73693000	Weak transcription	NHLF	lung
16	chr11:73685800-73691200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:73685800-73691200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:73686000-73692400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:73686600-73693000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:73687000-73693000	Weak transcription	NH-A	brain
21	chr11:73687200-73693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:73687600-73691200	Genic enhancers	Dnd41	blood
23	chr11:73687600-73691800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
24	chr11:73688000-73693400	Weak transcription	Brain Angular Gyrus	brain
25	chr11:73688000-73693800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr11:73688200-73691400	Weak transcription	Fetal Lung	lung
27	chr11:73688400-73694400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
28	chr11:73688600-73691800	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:73688600-73692200	Genic enhancers	Spleen	Spleen
30	chr11:73689000-73691400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:73689000-73692800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
32	chr11:73689200-73691400	Weak transcription	Left Ventricle	heart
33	chr11:73689200-73692600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
34	chr11:73689200-73692600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
35	chr11:73689200-73692600	Weak transcription	Liver	Liver
36	chr11:73689200-73692800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:73689400-73691200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:73689400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:73689600-73691200	Weak transcription	Colonic Mucosa	Colon
40	chr11:73689600-73691400	Weak transcription	Lung	lung
41	chr11:73689600-73692600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
42	chr11:73689600-73693000	Weak transcription	Right Ventricle	heart
43	chr11:73689800-73691200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:73689800-73691200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:73689800-73692400	Weak transcription	Brain Substantia Nigra	brain
46	chr11:73689800-73692800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:73689800-73692800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
48	chr11:73690000-73691200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:73690000-73691600	Genic enhancers	Placenta	Placenta
50	chr11:73690000-73691800	Enhancers	Stomach Mucosa	stomach

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