Variant report

Variant	rs41528455
Chromosome Location	chr8:48560706-48560707
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	chr8:48554598..48556958-chr8:48557992..48560714,2	K562	blood:
2	chr8:48559530..48561165-chr8:48648021..48650410,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11992284	0.83[AMR][1000 genomes]
rs11998024	0.83[AMR][1000 genomes]
rs2087494	0.83[AMR][1000 genomes]
rs2087655	1.00[AMR][1000 genomes]
rs41390145	1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs61735903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6996090	1.00[AMR][1000 genomes]
rs7001666	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7009817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7837384	0.88[AFR][1000 genomes]
rs8178228	0.87[AFR][1000 genomes]
rs8178267	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48546200-48562000	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:48546400-48562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:48552000-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:48552000-48564800	Weak transcription	HSMM	muscle
8	chr8:48552800-48564400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:48553400-48565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:48554800-48564000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:48554800-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:48554800-48566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:48554800-48571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:48554800-48571600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:48555400-48572200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:48556800-48565000	Weak transcription	A549	lung
19	chr8:48557600-48560800	Weak transcription	Fetal Stomach	stomach
20	chr8:48557600-48564800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:48557600-48571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:48558000-48564800	Weak transcription	Psoas Muscle	Psoas
23	chr8:48558000-48570400	Weak transcription	Left Ventricle	heart
24	chr8:48558000-48571000	Weak transcription	Right Atrium	heart
25	chr8:48558200-48570400	Weak transcription	Pancreas	Pancrea
26	chr8:48559800-48560800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:48559800-48560800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:48559800-48561200	Enhancers	NHEK	skin
29	chr8:48560600-48564600	Weak transcription	HMEC	breast
30	chr8:48560600-48564800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:48560600-48564800	Weak transcription	Esophagus	oesophagus
32	chr8:48560600-48571200	Weak transcription	Placenta	Placenta

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