Variant report

Variant	rs7999158
Chromosome Location	chr13:76270230-76270231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76269577..76270548-chr13:77047371..77048675,5	K562	blood:
2	chr13:76269693..76270610-chr13:76444514..76445100,2	MCF-7	breast:
3	chr13:76269711..76270627-chr13:77554340..77554905,3	K562	blood:
4	chr13:76269710..76270622-chr13:76374395..76375242,4	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1323710	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1830760	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2025354	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2328954	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs479824	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4885343	0.80[AMR][1000 genomes]
rs508596	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs560069	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61958148	0.82[ASN][1000 genomes]
rs634729	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs636505	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7324353	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7331527	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9530463	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9544028	0.83[AMR][1000 genomes]
rs9544029	0.83[AMR][1000 genomes]
rs9544034	0.80[AMR][1000 genomes]
rs9600533	0.82[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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76259400-76273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:76259600-76294400	Weak transcription	Ovary	ovary
3	chr13:76259800-76274600	Weak transcription	Aorta	Aorta
4	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:76260000-76271000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:76260400-76279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:76261000-76277600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:76262400-76278600	Weak transcription	Pancreas	Pancrea
9	chr13:76262600-76272000	Genic enhancers	Osteobl	bone
10	chr13:76266600-76271400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:76267200-76271000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr13:76268000-76270800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:76268000-76274800	Weak transcription	NHLF	lung
14	chr13:76268000-76279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:76268400-76271400	Enhancers	Placenta	Placenta
16	chr13:76268600-76271200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:76268600-76271200	Enhancers	Stomach Mucosa	stomach
18	chr13:76268800-76271200	Enhancers	Hela-S3	cervix
19	chr13:76268800-76277800	Weak transcription	NH-A	brain
20	chr13:76269000-76271800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:76269200-76270600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:76269400-76270600	Weak transcription	HSMMtube	muscle
23	chr13:76269400-76270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:76269400-76270800	Weak transcription	HSMM	muscle
25	chr13:76269400-76271200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:76269400-76271800	Weak transcription	NHDF-Ad	bronchial
27	chr13:76269600-76273400	Weak transcription	Fetal Intestine Small	intestine
28	chr13:76269800-76270800	Enhancers	Fetal Heart	heart
29	chr13:76270000-76270400	Enhancers	Stomach Smooth Muscle	stomach
30	chr13:76270000-76270600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:76270000-76270800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:76270200-76270400	Enhancers	Duodenum Mucosa	Duodenum
33	chr13:76270200-76270400	Enhancers	Right Atrium	heart
34	chr13:76270200-76270400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr13:76270200-76270600	Enhancers	Fetal Muscle Trunk	muscle
36	chr13:76270200-76270600	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links