Variant report

Variant	rs12217489
Chromosome Location	chr10:49999680-49999681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49998728..50000919-chr10:50001573..50004326,2	K562	blood:
2	chr10:49998728..50000670-chr10:50000841..50003073,2	K562	blood:
3	chr10:49997425..50000920-chr10:50010658..50015147,8	MCF-7	breast:
4	chr10:49998728..50000233-chr10:50020617..50022326,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128815	Chromatin interaction

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

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

rs_ID	r²[population]
rs11101474	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11101496	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101498	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101507	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12219280	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12220783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12412647	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17836435	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2127589	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs41282009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282011	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57839743	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58293991	0.85[ASN][1000 genomes]
rs60048486	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49967600-50000000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49967800-50006800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49981400-50007200	Strong transcription	Primary B cells from cord blood	blood
4	chr10:49982400-50000800	Weak transcription	Fetal Thymus	thymus
5	chr10:49982600-50006800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:49985600-49999800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:49992600-49999800	Weak transcription	Small Intestine	intestine
8	chr10:49992800-50005200	Strong transcription	Primary hematopoietic stem cells	blood
9	chr10:49993400-50002200	Strong transcription	GM12878-XiMat	blood
10	chr10:49993600-50001000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:49993800-50005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:49995400-50000000	Weak transcription	Colonic Mucosa	Colon
13	chr10:49996200-50000200	Weak transcription	Brain Hippocampus Middle	brain
14	chr10:49996600-50005400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr10:49997600-50000600	Strong transcription	Spleen	Spleen
16	chr10:49998800-50000200	Weak transcription	Adipose Nuclei	Adipose
17	chr10:49999000-50000400	Enhancers	Lung	lung
18	chr10:49999200-50000200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr10:49999200-50005600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr10:49999200-50006200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr10:49999400-50003400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:49999600-50000600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:49999600-50000600	Enhancers	Fetal Lung	lung
24	chr10:49999600-50000800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:49999600-50001000	Enhancers	Aorta	Aorta
26	chr10:49999600-50001000	Enhancers	Ovary	ovary
27	chr10:49999600-50001200	Enhancers	Esophagus	oesophagus
28	chr10:49999600-50003000	Enhancers	Left Ventricle	heart

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