Variant report

Variant	rs4841518
Chromosome Location	chr8:11145963-11145964
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	chr8:11145415..11146964-chr8:11204889..11207266,2	K562	blood:

Variant related genes	Relation type
ENSG00000255020	Chromatin interaction
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10091637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108740	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11782742	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12680792	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1369368	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1435279	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1529856	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529858	0.82[AMR][1000 genomes]
rs1545073	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2016285	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2117616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245937	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2256016	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272594	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2409754	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2409755	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2572420	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572426	1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2572428	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736258	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2736385	0.96[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2736387	0.88[CEU][hapmap];0.89[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736388	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2736390	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808507	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3808515	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808516	0.88[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs3824212	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4410870	0.84[CEU][hapmap]
rs4515509	0.89[EUR][1000 genomes]
rs4841517	0.85[EUR][1000 genomes]
rs4841519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718427	0.90[CHB][hapmap]
rs7813424	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv3448910	chr8:11144417-11146865	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv3481461	chr8:11144892-11146440	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3481462	chr8:11144892-11146440	Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 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	chr8:11143000-11146000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:11143000-11146000	Weak transcription	Lung	lung
3	chr8:11143000-11146200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:11143000-11149400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:11143000-11162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
7	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
8	chr8:11143400-11146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:11143400-11146000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:11143400-11146000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:11143400-11146000	Weak transcription	Gastric	stomach
12	chr8:11143400-11146000	Weak transcription	NH-A	brain
13	chr8:11143400-11146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:11143400-11146600	Weak transcription	HUVEC	blood vessel
15	chr8:11143400-11147000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:11143400-11147000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:11143400-11147000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:11143400-11150200	Weak transcription	Osteobl	bone
19	chr8:11143400-11152800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:11143400-11153000	Weak transcription	NHLF	lung
21	chr8:11143400-11153200	Weak transcription	Fetal Thymus	thymus
22	chr8:11143400-11154000	Weak transcription	Psoas Muscle	Psoas
23	chr8:11143400-11163600	Weak transcription	Brain Angular Gyrus	brain
24	chr8:11143400-11166400	Weak transcription	HSMMtube	muscle
25	chr8:11143600-11146000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:11143800-11149200	Weak transcription	K562	blood
27	chr8:11143800-11149400	Weak transcription	Aorta	Aorta
28	chr8:11143800-11153200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:11143800-11169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:11144000-11146000	Weak transcription	Fetal Stomach	stomach
31	chr8:11144000-11147800	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:11144000-11152800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:11144000-11152800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr8:11144000-11163200	Weak transcription	Right Ventricle	heart
35	chr8:11144200-11146600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:11144200-11152800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:11144400-11146000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:11144400-11146800	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:11144400-11147200	Strong transcription	HSMM	muscle
40	chr8:11144400-11147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:11144400-11152800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:11144400-11153000	Weak transcription	NHEK	skin
43	chr8:11144400-11156000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:11144600-11146000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:11144600-11146200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:11144600-11147000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:11144600-11147200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr8:11144600-11148200	Strong transcription	Primary B cells from cord blood	blood
49	chr8:11144600-11153000	Weak transcription	Fetal Kidney	kidney
50	chr8:11144600-11153400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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