Variant report

Variant	rs45567343
Chromosome Location	chr11:73685765-73685766
allele	C/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	POLR2A	chr11:73683045-73687212	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:73683064-73685810	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:73684977-73685772	K562	blood:	n/a	n/a
4	POLR2A	chr11:73679479-73686782	K562	blood:	n/a	n/a
5	POLR2A	chr11:73680396-73687250	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
7	POLR2A	chr11:73685281-73685830	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:73682016-73686824	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:73679749-73686894	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:73681127-73686994	K562	blood:	n/a	n/a
11	POLR2A	chr11:73679760-73685825	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:73685051-73685854	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:73684962-73685854	K562	blood:	n/a	n/a
14	POLR2A	chr11:73684849-73685909	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:73679439-73686847	GM18505	blood:	n/a	n/a
16	POLR2A	chr11:73683035-73687243	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:73684963-73686035	HL-60	blood:	n/a	n/a
18	POLR2A	chr11:73683095-73686851	HL-60	blood:	n/a	n/a
19	SP1	chr11:73685706-73686020	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73684220..73687035-chr11:73766877..73770022,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255847	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35815449	1.00[AMR][1000 genomes]
rs45453391	1.00[EUR][1000 genomes]
rs45490393	1.00[EUR][1000 genomes]
rs45493400	1.00[EUR][1000 genomes]
rs45504392	1.00[EUR][1000 genomes]
rs45508598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45516095	1.00[EUR][1000 genomes]
rs45520037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45526034	1.00[AMR][1000 genomes]
rs45535341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45537737	1.00[EUR][1000 genomes]
rs45541040	1.00[AMR][1000 genomes]
rs45541732	1.00[EUR][1000 genomes]
rs45565136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45583331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45585032	1.00[EUR][1000 genomes]
rs45600039	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45626332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58670711	1.00[EUR][1000 genomes]
rs58950129	1.00[EUR][1000 genomes]
rs60141953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101416	1.00[AMR][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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73669000-73685800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
4	chr11:73676000-73686000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:73676000-73686200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:73676000-73686200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:73676000-73686400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:73676000-73687400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:73676200-73687600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:73676400-73685800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:73676600-73691000	Weak transcription	Fetal Heart	heart
13	chr11:73680000-73686800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:73682600-73689200	Genic enhancers	Primary B cells from cord blood	blood
15	chr11:73683200-73689800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:73683200-73690800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:73683400-73685800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:73683400-73689800	Genic enhancers	Thymus	Thymus
19	chr11:73683600-73688200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:73683800-73685800	Enhancers	Stomach Mucosa	stomach
21	chr11:73683800-73686000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:73683800-73687600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:73684000-73685800	Weak transcription	Pancreas	Pancrea
24	chr11:73684000-73686000	Enhancers	Esophagus	oesophagus
25	chr11:73684000-73686400	Weak transcription	Aorta	Aorta
26	chr11:73684000-73690800	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr11:73684000-73691000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:73684000-73691000	Weak transcription	HUVEC	blood vessel
29	chr11:73684200-73686600	Genic enhancers	Primary hematopoietic stem cells	blood
30	chr11:73684200-73690000	Genic enhancers	Fetal Thymus	thymus
31	chr11:73684200-73691000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:73684400-73686000	Weak transcription	Liver	Liver
33	chr11:73684400-73686000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:73684400-73686600	Weak transcription	Left Ventricle	heart
35	chr11:73684400-73687400	Weak transcription	Right Ventricle	heart
36	chr11:73684400-73689600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:73684400-73690400	Strong transcription	Fetal Intestine Small	intestine
38	chr11:73684400-73690600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:73684400-73691200	Strong transcription	Fetal Stomach	stomach
40	chr11:73684600-73690800	Genic enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:73684800-73685800	Weak transcription	Colonic Mucosa	Colon
42	chr11:73684800-73692600	Weak transcription	Right Atrium	heart
43	chr11:73685000-73685800	Genic enhancers	Lung	lung
44	chr11:73685000-73686400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
45	chr11:73685000-73686600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:73685000-73686600	Genic enhancers	Dnd41	blood
47	chr11:73685000-73686800	Genic enhancers	Spleen	Spleen
48	chr11:73685000-73687200	Weak transcription	HSMM	muscle
49	chr11:73685000-73688200	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr11:73685000-73688400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood

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