Variant report

Variant	rs60162610
Chromosome Location	chr11:46356502-46356503
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	chr11:46356157-46358070	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46353725..46355904-chr11:46356126..46359291,3	K562	blood:
2	chr11:46265051..46266629-chr11:46356123..46358968,2	K562	blood:

Variant related genes	Relation type
DGKZ	TF binding region
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10734546	1.00[AMR][1000 genomes]
rs1489190	1.00[AMR][1000 genomes]
rs1812657	1.00[AMR][1000 genomes]
rs1873129	1.00[AMR][1000 genomes]
rs2029378	1.00[AMR][1000 genomes]
rs2046766	1.00[AMR][1000 genomes]
rs2046767	1.00[AMR][1000 genomes]
rs2087360	1.00[AMR][1000 genomes]
rs2087361	1.00[AMR][1000 genomes]
rs2864071	1.00[AMR][1000 genomes]
rs34217002	1.00[AMR][1000 genomes]
rs34444424	1.00[AMR][1000 genomes]
rs35267642	1.00[AMR][1000 genomes]
rs35715394	1.00[AMR][1000 genomes]
rs35935319	1.00[AMR][1000 genomes]
rs4367921	1.00[AMR][1000 genomes]
rs4376875	1.00[AMR][1000 genomes]
rs4433539	1.00[AMR][1000 genomes]
rs4508179	1.00[AMR][1000 genomes]
rs4550197	1.00[AMR][1000 genomes]
rs56991558	1.00[AMR][1000 genomes]
rs58314136	1.00[AMR][1000 genomes]
rs58770070	1.00[AMR][1000 genomes]
rs61451984	1.00[AMR][1000 genomes]
rs61514976	1.00[AMR][1000 genomes]
rs61693609	1.00[AMR][1000 genomes]
rs6485681	1.00[AMR][1000 genomes]
rs73464058	0.92[AFR][1000 genomes]
rs73464080	1.00[AMR][1000 genomes]
rs73466031	1.00[AMR][1000 genomes]
rs73466069	1.00[AMR][1000 genomes]
rs73466088	1.00[AMR][1000 genomes]
rs73466094	1.00[AMR][1000 genomes]
rs73466095	1.00[AMR][1000 genomes]
rs73466099	1.00[AMR][1000 genomes]
rs73467917	1.00[AMR][1000 genomes]
rs73467919	1.00[AMR][1000 genomes]
rs73467920	1.00[AMR][1000 genomes]
rs73467936	1.00[AMR][1000 genomes]
rs73467938	1.00[AMR][1000 genomes]
rs73467941	1.00[AMR][1000 genomes]
rs73467944	1.00[AMR][1000 genomes]
rs73467950	1.00[AMR][1000 genomes]
rs73467963	1.00[AMR][1000 genomes]
rs7924695	1.00[AMR][1000 genomes]
rs7928869	1.00[AMR][1000 genomes]
rs967754	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46349800-46357400	Weak transcription	Hela-S3	cervix
2	chr11:46355000-46358000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr11:46355200-46358600	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr11:46355200-46360200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:46355200-46360200	Weak transcription	Pancreas	Pancrea
6	chr11:46355200-46360600	Weak transcription	Gastric	stomach
7	chr11:46355400-46356600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr11:46355400-46358600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:46355400-46359600	Weak transcription	Fetal Heart	heart
10	chr11:46355600-46356800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:46355800-46357600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:46355800-46360400	Enhancers	Placenta	Placenta
13	chr11:46356000-46357200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:46356000-46357400	Enhancers	Brain Angular Gyrus	brain
15	chr11:46356000-46358600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr11:46356000-46359000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr11:46356000-46359200	Weak transcription	Right Atrium	heart
18	chr11:46356000-46359400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:46356000-46359400	Weak transcription	Lung	lung
20	chr11:46356000-46359400	Weak transcription	Right Ventricle	heart
21	chr11:46356000-46360200	Weak transcription	Spleen	Spleen
22	chr11:46356200-46356600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr11:46356200-46357600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:46356200-46358200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:46356400-46356800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:46356400-46356800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:46356400-46356800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:46356400-46357000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr11:46356400-46357200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:46356400-46357400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:46356400-46357400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr11:46356400-46357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:46356400-46358000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:46356400-46358600	Enhancers	Brain Anterior Caudate	brain
35	chr11:46356400-46360400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:46356400-46360400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:46356400-46360400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:46356400-46360600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:46356400-46360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:46356400-46363000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:46356400-46366400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:46356400-46366600	Enhancers	Fetal Thymus	thymus

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