Variant report

Variant	rs3021512
Chromosome Location	chr8:11301601-11301602
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12115021	0.81[EUR][1000 genomes]
rs2001462	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3021517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3021518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55764254	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56003968	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56138616	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56235592	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56286613	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56388647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58319820	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58387061	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60320871	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66934548	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67350204	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67526040	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67539049	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67684445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs67909842	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67932868	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs68063127	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73207493	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73207496	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73207500	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73209223	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73209241	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73209243	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73209249	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73209250	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73546310	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73546312	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7832089	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7835996	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
4	chr8:11289800-11305800	Weak transcription	Osteobl	bone
5	chr8:11291600-11303800	Weak transcription	Brain Angular Gyrus	brain
6	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
7	chr8:11292600-11302200	Weak transcription	Lung	lung
8	chr8:11296200-11305800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:11296200-11319200	Enhancers	Fetal Thymus	thymus
10	chr8:11296400-11301800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr8:11298200-11305800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:11298200-11306000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11298200-11306000	Weak transcription	Fetal Heart	heart
14	chr8:11298400-11306000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:11298400-11306000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:11298800-11308600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:11299200-11306000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:11299400-11306600	Enhancers	Stomach Mucosa	stomach
19	chr8:11299600-11301800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:11299600-11301800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:11299800-11304600	Enhancers	Thymus	Thymus
22	chr8:11300600-11303200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:11300600-11305800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:11300800-11302200	Enhancers	NHEK	skin
25	chr8:11300800-11302800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:11301200-11301800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:11301200-11302600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:11301200-11302800	Weak transcription	Gastric	stomach
29	chr8:11301200-11303200	Weak transcription	Brain Substantia Nigra	brain
30	chr8:11301200-11303600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:11301200-11304000	Weak transcription	Esophagus	oesophagus
32	chr8:11301200-11305800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:11301400-11301800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:11301400-11302600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:11301400-11306200	Weak transcription	GM12878-XiMat	blood
36	chr8:11301600-11301800	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr8:11301600-11302000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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