Variant report

Variant	rs7992306
Chromosome Location	chr13:50542734-50542735
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	chr13:50541041..50543256-chr13:50570099..50571852,2	MCF-7	breast:
2	chr13:50541396..50543850-chr13:51484006..51485830,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233672	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1086510	1.00[EUR][1000 genomes]
rs1241386	1.00[EUR][1000 genomes]
rs2252794	1.00[EUR][1000 genomes]
rs2472595	1.00[EUR][1000 genomes]
rs2740536	1.00[EUR][1000 genomes]
rs2760916	1.00[EUR][1000 genomes]
rs2760917	1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs56285935	1.00[EUR][1000 genomes]
rs56794415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58364236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58438849	1.00[EUR][1000 genomes]
rs58450365	1.00[EUR][1000 genomes]
rs59609469	1.00[EUR][1000 genomes]
rs60016474	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61384266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61495306	1.00[EUR][1000 genomes]
rs706607	1.00[EUR][1000 genomes]
rs706612	1.00[EUR][1000 genomes]
rs7323645	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7329205	0.90[AFR][1000 genomes]
rs7330228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7336462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[EUR][1000 genomes]
rs790936	1.00[EUR][1000 genomes]
rs790938	1.00[EUR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7996036	1.00[EUR][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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	nsv561630	chr13:50525141-50545402	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv517142	chr13:50535863-50545357	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 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	chr13:50522400-50550600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:50529400-50547000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:50529600-50550000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:50529800-50543200	Weak transcription	Osteobl	bone
5	chr13:50529800-50544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr13:50530000-50546600	Weak transcription	Fetal Thymus	thymus
7	chr13:50531400-50550400	Weak transcription	NHDF-Ad	bronchial
8	chr13:50533000-50552200	Weak transcription	Ovary	ovary
9	chr13:50534400-50550400	Weak transcription	HSMM	muscle
10	chr13:50535600-50547400	Weak transcription	Thymus	Thymus
11	chr13:50536400-50552800	Weak transcription	Fetal Heart	heart
12	chr13:50538200-50550400	Weak transcription	Brain Substantia Nigra	brain
13	chr13:50538200-50558000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:50538800-50550400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:50539000-50548800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr13:50539000-50570000	Weak transcription	Fetal Intestine Small	intestine
17	chr13:50539800-50550400	Weak transcription	A549	lung
18	chr13:50540000-50543400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:50540000-50550400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:50540200-50544800	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:50540200-50562200	Weak transcription	Adipose Nuclei	Adipose
22	chr13:50540400-50547200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:50540400-50550400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:50540400-50550400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:50540400-50569800	Weak transcription	Primary T cells from cord blood	blood
26	chr13:50540600-50549400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr13:50541200-50546800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:50542600-50550800	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links