Variant report

Variant	rs6040390
Chromosome Location	chr20:11151027-11151028
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16992273	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17225014	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17800010	1.00[CHB][hapmap]
rs2207410	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207411	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4271823	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527274	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040396	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6040403	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040416	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6074221	1.00[CHB][hapmap]
rs62191760	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191763	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191764	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193314	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193315	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193316	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193319	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193320	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66677123	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080531	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080548	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73080549	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119166	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119301	0.95[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11146600-11151200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr20:11148800-11152600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr20:11149200-11151200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:11149200-11151200	Weak transcription	NHEK	skin
5	chr20:11149200-11152200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:11149600-11151200	Weak transcription	HMEC	breast
7	chr20:11149600-11158800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:11150200-11151200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr20:11150200-11151800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr20:11150400-11152200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr20:11150600-11151800	Enhancers	Osteobl	bone
12	chr20:11150800-11151200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:11150800-11151600	Enhancers	Fetal Kidney	kidney
14	chr20:11150800-11151600	Enhancers	NHDF-Ad	bronchial
15	chr20:11150800-11152000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:11150800-11152200	Enhancers	HSMMtube	muscle
17	chr20:11150800-11152800	Enhancers	HSMM	muscle
18	chr20:11151000-11151200	Enhancers	HUVEC	blood vessel
19	chr20:11151000-11151400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:11151000-11151400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:11151000-11151600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr20:11151000-11151600	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links