Variant report

Variant	rs71599091
Chromosome Location	chr4:106911327-106911328
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106909185..106911956-chr4:106914029..106916741,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1108244	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1108245	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1108246	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12500199	0.86[ASN][1000 genomes]
rs13128995	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17036424	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17036425	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036480	0.91[ASN][1000 genomes]
rs17036491	0.86[ASN][1000 genomes]
rs17036492	0.86[ASN][1000 genomes]
rs1893715	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893716	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2156507	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2866784	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2866785	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28790999	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28798389	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34855241	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35019375	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35341779	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35686571	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35716368	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4142419	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4277780	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4345186	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4345187	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4585305	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4698952	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699206	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4699207	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533233	0.87[ASN][1000 genomes]
rs6812365	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6813376	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72958841	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7662283	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs869929	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs884691	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs915880	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs915881	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs959786	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs959787	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9683620	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9683630	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9683643	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9683650	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9684387	0.91[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	nsv1014993	chr4:106796019-106980727	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv522792	chr4:106895964-106982793	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106907800-106925000	Weak transcription	Pancreas	Pancrea
2	chr4:106909600-106911400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:106909800-106913000	Enhancers	Aorta	Aorta
4	chr4:106909800-106913200	Enhancers	HUVEC	blood vessel
5	chr4:106910000-106913200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr4:106910000-106913400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:106910200-106911400	Weak transcription	Left Ventricle	heart
8	chr4:106910400-106912800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:106910400-106913400	Enhancers	Fetal Muscle Leg	muscle
10	chr4:106910600-106913200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:106910600-106913200	Enhancers	Fetal Heart	heart
12	chr4:106910600-106913200	Enhancers	Fetal Stomach	stomach
13	chr4:106910600-106913200	Enhancers	HSMM	muscle
14	chr4:106910800-106912200	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:106910800-106912800	Enhancers	HMEC	breast
16	chr4:106910800-106913200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:106910800-106913200	Enhancers	Psoas Muscle	Psoas
18	chr4:106910800-106913200	Enhancers	HSMMtube	muscle
19	chr4:106911000-106911600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:106911000-106912200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:106911200-106912200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:106911200-106912600	Enhancers	NHDF-Ad	bronchial
23	chr4:106911200-106914000	Enhancers	Adipose Nuclei	Adipose

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