Variant report

Variant	rs4269581
Chromosome Location	chr8:121403768-121403769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121395101..121396775-chr8:121403444..121405016,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10098378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808510	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11775273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12674802	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893983	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4311691	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4392947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4442180	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4567082	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4870729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871061	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074613	0.93[AFR][1000 genomes]
rs6999683	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297617	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121369600-121406200	Weak transcription	Left Ventricle	heart
2	chr8:121391200-121406600	Weak transcription	NHLF	lung
3	chr8:121391400-121407000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:121396600-121407200	Weak transcription	HSMM	muscle
5	chr8:121396800-121416800	Weak transcription	Aorta	Aorta
6	chr8:121397000-121407000	Weak transcription	HSMMtube	muscle
7	chr8:121397000-121407200	Weak transcription	Fetal Heart	heart
8	chr8:121397200-121404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:121397200-121404800	Weak transcription	Osteobl	bone
10	chr8:121400800-121404000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:121400800-121406400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:121401200-121406600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:121401200-121410000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:121401400-121404000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:121401400-121404800	Weak transcription	Fetal Kidney	kidney
16	chr8:121401400-121410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:121401600-121404000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:121401600-121406600	Weak transcription	Placenta	Placenta
19	chr8:121401800-121404600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:121402000-121404000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:121402000-121405000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
23	chr8:121402200-121404200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:121402200-121405200	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr8:121402200-121415600	Weak transcription	Esophagus	oesophagus
26	chr8:121402200-121416200	Weak transcription	Stomach Mucosa	stomach
27	chr8:121402400-121404000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:121402400-121404400	ZNF genes & repeats	Lung	lung
29	chr8:121402400-121404600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:121402400-121404600	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr8:121402400-121405000	ZNF genes & repeats	Brain Germinal Matrix	brain
32	chr8:121402400-121405200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:121402400-121405200	ZNF genes & repeats	Fetal Brain Female	brain
34	chr8:121402400-121405800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr8:121402400-121409200	Weak transcription	Right Ventricle	heart
36	chr8:121402400-121409600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:121402400-121409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:121402600-121404000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:121402600-121404400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:121402600-121404400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:121402600-121404600	Strong transcription	Fetal Intestine Large	intestine
42	chr8:121402600-121408600	Strong transcription	Fetal Thymus	thymus
43	chr8:121402800-121403800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr8:121402800-121404000	Weak transcription	Primary B cells from cord blood	blood
45	chr8:121402800-121404600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:121402800-121404600	Strong transcription	Thymus	Thymus
47	chr8:121402800-121404800	Weak transcription	Liver	Liver
48	chr8:121402800-121405000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:121402800-121405000	Strong transcription	A549	lung
50	chr8:121402800-121405400	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links