Variant report

Variant	rs45588533
Chromosome Location	chr8:48975519-48975520
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	chr8:48970388..48974071-chr8:48975063..48978866,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10097627	1.00[EUR][1000 genomes]
rs10958450	0.81[ASN][1000 genomes]
rs17287635	1.00[EUR][1000 genomes]
rs3824124	1.00[EUR][1000 genomes]
rs4129301	1.00[EUR][1000 genomes]
rs4129302	1.00[EUR][1000 genomes]
rs45480301	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45492298	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs45498198	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7833492	1.00[EUR][1000 genomes]
rs8178050	1.00[EUR][1000 genomes]
rs8178085	1.00[EUR][1000 genomes]
rs8178118	1.00[EUR][1000 genomes]
rs9792194	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv890850	chr8:48954143-49018790	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv890851	chr8:48954143-49031082	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1793797	chr8:48955683-48992093	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1798949	chr8:48960737-48976333	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv890852	chr8:48964607-49022082	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv890853	chr8:48964607-49031082	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1025169	chr8:48965133-49024711	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1020050	chr8:48965133-49028634	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1033298	chr8:48965133-49048832	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48953200-48983400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:48954600-48975600	Weak transcription	Pancreas	Pancrea
3	chr8:48954800-48975800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:48958000-48980600	Weak transcription	Small Intestine	intestine
5	chr8:48958200-48975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:48960400-48975800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:48961000-48975800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:48961000-48976800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:48964200-48975600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:48964800-48982400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:48964800-48986800	Weak transcription	NHEK	skin
12	chr8:48965400-48976400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:48965400-48986400	Weak transcription	HSMMtube	muscle
14	chr8:48965400-48986400	Weak transcription	NHLF	lung
15	chr8:48965400-48987800	Weak transcription	K562	blood
16	chr8:48965600-48975600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:48965600-48982200	Weak transcription	Psoas Muscle	Psoas
18	chr8:48965600-48984200	Weak transcription	Esophagus	oesophagus
19	chr8:48965800-48975600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:48965800-48977200	Weak transcription	Brain Angular Gyrus	brain
21	chr8:48965800-48977200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:48965800-48977200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:48965800-48979000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:48965800-48979600	Weak transcription	HepG2	liver
25	chr8:48965800-48981200	Weak transcription	Brain Anterior Caudate	brain
26	chr8:48965800-48982200	Weak transcription	Aorta	Aorta
27	chr8:48965800-48982200	Weak transcription	Right Ventricle	heart
28	chr8:48965800-48985000	Weak transcription	Gastric	stomach
29	chr8:48966200-48982200	Weak transcription	GM12878-XiMat	blood
30	chr8:48967000-48976200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:48967000-48977400	Weak transcription	Spleen	Spleen
32	chr8:48967200-48981400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:48967600-48981800	Weak transcription	HUVEC	blood vessel
34	chr8:48968200-48977200	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:48968800-48976000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:48969400-48977200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:48969600-48975600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:48969600-48975600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:48969600-48976200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:48969600-48986000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:48969600-48987800	Weak transcription	Ovary	ovary
42	chr8:48970800-48975800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:48971600-48975600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:48971800-48975800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:48971800-48977000	Strong transcription	Liver	Liver
46	chr8:48972200-48976800	Strong transcription	HSMM	muscle
47	chr8:48972400-48980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:48972400-48987000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:48972600-48976800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:48972600-48979000	Weak transcription	Thymus	Thymus

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