Variant report

Variant	rs12263319
Chromosome Location	chr10:99336600-99336601
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	chr10:99329733..99337149-chr10:99338392..99346753,19	MCF-7	breast:
2	chr10:99333671..99336639-chr10:99408320..99410860,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249967	Chromatin interaction
ENSG00000241935	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10882958	0.88[ASN][1000 genomes]
rs11189254	0.87[ASN][1000 genomes]
rs12245837	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12259524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263477	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17107905	0.84[ASN][1000 genomes]
rs17108072	1.00[ASN][1000 genomes]
rs17108087	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17108114	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2153545	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2275588	0.86[ASN][1000 genomes]
rs35311829	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4919110	0.90[ASN][1000 genomes]
rs58336429	0.93[ASN][1000 genomes]
rs59951048	1.00[ASN][1000 genomes]
rs60730732	0.93[ASN][1000 genomes]
rs7077096	1.00[ASN][1000 genomes]
rs7912825	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7922873	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1036494	chr10:99267639-99345207	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1047359	chr10:99306501-99369013	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99331000-99337200	Enhancers	Fetal Heart	heart
2	chr10:99332600-99338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:99334600-99338200	Weak transcription	Lung	lung
4	chr10:99334800-99343400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:99335000-99337600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:99335000-99337800	Enhancers	A549	lung
7	chr10:99335000-99338000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:99335000-99338000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:99335000-99343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:99335200-99343400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:99335400-99337800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr10:99335400-99340200	Weak transcription	Pancreas	Pancrea
13	chr10:99336000-99338200	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:99336000-99342000	Weak transcription	Right Ventricle	heart
15	chr10:99336000-99348800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:99336200-99337200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr10:99336200-99338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:99336200-99339800	Weak transcription	Hela-S3	cervix
19	chr10:99336200-99340200	Weak transcription	Placenta	Placenta
20	chr10:99336200-99340800	Weak transcription	Right Atrium	heart
21	chr10:99336200-99342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:99336200-99343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:99336200-99343400	Weak transcription	Psoas Muscle	Psoas
24	chr10:99336400-99337400	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links