Variant report

Variant	rs1253026
Chromosome Location	chr10:99491246-99491247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:99460906..99461905-chr10:99491204..99492125,3	K562	blood:
2	chr10:99468891..99470130-chr10:99490908..99491797,4	K562	blood:
3	chr10:99435936..99437099-chr10:99490664..99492104,9	K562	blood:
4	chr10:99473776..99476718-chr10:99490535..99492237,2	K562	blood:
5	chr10:99482033..99484147-chr10:99490073..99491810,2	MCF-7	breast:
6	chr10:99332125..99332702-chr10:99491238..99492185,4	K562	blood:
7	chr10:99466947..99470987-chr10:99489059..99494674,5	MCF-7	breast:
8	chr10:99488183..99489718-chr10:99490230..99493190,2	MCF-7	breast:
9	chr10:99473741..99475508-chr10:99489949..99491740,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155254	Chromatin interaction
ENSG00000165887	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1253024	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1253025	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1253027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4919136	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4919137	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894678	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv467441	chr10:99472710-99541104	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv552026	chr10:99472710-99541104	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99478800-99496400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:99486800-99491400	Weak transcription	HSMM	muscle
3	chr10:99486800-99491600	Weak transcription	HSMMtube	muscle
4	chr10:99486800-99496000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:99486800-99496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:99486800-99496400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:99486800-99496400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:99486800-99496400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:99486800-99496400	Weak transcription	Pancreas	Pancrea
10	chr10:99486800-99496600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:99487000-99491600	Weak transcription	HMEC	breast
12	chr10:99487000-99491800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:99487000-99496000	Weak transcription	K562	blood
14	chr10:99487000-99496400	Weak transcription	Brain Anterior Caudate	brain
15	chr10:99487000-99496400	Weak transcription	Colon Smooth Muscle	Colon
16	chr10:99487000-99496400	Weak transcription	A549	lung
17	chr10:99487200-99491400	Weak transcription	Osteobl	bone
18	chr10:99487200-99496400	Weak transcription	NHEK	skin
19	chr10:99487200-99496600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:99487600-99496000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:99489200-99496200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr10:99491200-99491400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:99491200-99491400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:99491200-99491400	Enhancers	Stomach Smooth Muscle	stomach
25	chr10:99491200-99491600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr10:99491200-99491600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:99491200-99491600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:99491200-99491600	Enhancers	Brain Substantia Nigra	brain
29	chr10:99491200-99491600	Enhancers	NHDF-Ad	bronchial
30	chr10:99491200-99491600	Enhancers	NHLF	lung
31	chr10:99491200-99491800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:99491200-99491800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:99491200-99492000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:99491200-99492000	Enhancers	Hela-S3	cervix

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