Variant report

Variant	rs13337650
Chromosome Location	chr16:58652528-58652529
allele	C/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	POLR2A	chr16:58651605-58653107	GM18505	blood:	n/a	n/a
2	POLR2A	chr16:58650898-58653080	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:58652403-58653007	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr16:58652481-58653328	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:58652295-58652637	MCF-7	breast:	n/a	n/a
6	POLR2A	chr16:58652192-58653113	GM12891	blood:	n/a	n/a
7	POLR2A	chr16:58651292-58653229	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:58651358-58656499	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:58652400-58652819	GM12892	blood:	n/a	n/a
10	POLR2A	chr16:58650830-58652923	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:58651378-58653027	GM12892	blood:	n/a	n/a
12	POLR2A	chr16:58652189-58653271	GM12892	blood:	n/a	n/a
13	POLR2A	chr16:58652367-58652954	GM12891	blood:	n/a	n/a
14	POLR2A	chr16:58652326-58653107	GM12891	blood:	n/a	n/a
15	POLR2A	chr16:58650357-58653283	K562	blood:	n/a	n/a
16	POLR2A	chr16:58652406-58653155	A549	lung:	n/a	n/a
17	POLR2A	chr16:58651340-58653214	GM12892	blood:	n/a	n/a
18	POLR2A	chr16:58652400-58653078	GM12891	blood:	n/a	n/a
19	POLR2A	chr16:58651433-58653389	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000239121	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13329892	1.00[EUR][1000 genomes]
rs13334745	1.00[EUR][1000 genomes]
rs13334922	1.00[EUR][1000 genomes]
rs13335464	1.00[EUR][1000 genomes]
rs13335851	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13335953	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13339352	1.00[EUR][1000 genomes]
rs28394663	1.00[EUR][1000 genomes]
rs28468502	1.00[EUR][1000 genomes]
rs28472773	1.00[EUR][1000 genomes]
rs28530777	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533067	1.00[EUR][1000 genomes]
rs28613241	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28644182	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28744389	1.00[EUR][1000 genomes]
rs34698978	1.00[EUR][1000 genomes]
rs57335704	1.00[EUR][1000 genomes]
rs7186446	1.00[EUR][1000 genomes]
rs7193580	1.00[EUR][1000 genomes]
rs73550817	1.00[EUR][1000 genomes]
rs73550821	1.00[EUR][1000 genomes]
rs73558468	1.00[EUR][1000 genomes]
rs8048686	1.00[EUR][1000 genomes]
rs9746055	1.00[EUR][1000 genomes]
rs9923409	1.00[EUR][1000 genomes]
rs9924494	1.00[EUR][1000 genomes]
rs9926053	1.00[EUR][1000 genomes]
rs9930277	1.00[EUR][1000 genomes]
rs9938192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938386	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9939324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941013	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941175	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv521338	chr16:58580519-58653838	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1794872	chr16:58619643-58678078	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv1824217	chr16:58646641-58653702	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv572770	chr16:58647731-58653838	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv572771	chr16:58647731-58660390	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv572778	chr16:58648089-58653838	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv572784	chr16:58648248-58653838	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv572787	chr16:58648315-58653838	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv572789	chr16:58648561-58653838	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv572790	chr16:58648561-58660390	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3334427	chr16:58652158-58652704	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58631800-58657200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr16:58632000-58656800	Weak transcription	HSMMtube	muscle
3	chr16:58632000-58657000	Weak transcription	Brain Angular Gyrus	brain
4	chr16:58632200-58658000	Weak transcription	Aorta	Aorta
5	chr16:58633200-58657000	Weak transcription	Right Ventricle	heart
6	chr16:58637800-58655000	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:58637800-58657200	Weak transcription	Small Intestine	intestine
8	chr16:58637800-58658000	Weak transcription	Fetal Brain Male	brain
9	chr16:58637800-58662000	Weak transcription	Stomach Mucosa	stomach
10	chr16:58638200-58661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:58639400-58661600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:58640000-58659400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr16:58640600-58656800	Weak transcription	Colonic Mucosa	Colon
14	chr16:58645800-58659000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:58647200-58661600	Weak transcription	Psoas Muscle	Psoas
16	chr16:58647800-58660400	Strong transcription	Fetal Intestine Small	intestine
17	chr16:58648000-58659400	Strong transcription	Thymus	Thymus
18	chr16:58648000-58659800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:58648400-58653800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:58648400-58659200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:58648800-58659800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr16:58649000-58659600	Weak transcription	Right Atrium	heart
23	chr16:58649200-58660200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:58649400-58657200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:58649600-58655600	Strong transcription	GM12878-XiMat	blood
26	chr16:58649600-58658000	Weak transcription	Fetal Heart	heart
27	chr16:58649800-58653800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr16:58650200-58653200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr16:58650200-58654200	Strong transcription	Primary B cells from cord blood	blood
30	chr16:58650200-58658600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr16:58650400-58653000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:58650400-58653000	Strong transcription	Osteobl	bone
33	chr16:58650400-58653200	Strong transcription	NHDF-Ad	bronchial
34	chr16:58650400-58654800	Strong transcription	NHEK	skin
35	chr16:58650400-58659200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:58650400-58659800	Strong transcription	Fetal Stomach	stomach
37	chr16:58650400-58660200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:58650400-58660200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr16:58650600-58655200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr16:58650600-58659000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:58650600-58659000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:58650600-58659600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr16:58650600-58659600	Strong transcription	NH-A	brain
44	chr16:58650600-58659800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:58650600-58659800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:58650600-58659800	Strong transcription	Placenta	Placenta
47	chr16:58650600-58660000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr16:58650600-58660800	Strong transcription	Dnd41	blood
49	chr16:58650800-58654600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:58650800-58654600	Strong transcription	K562	blood

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