Variant report

Variant	rs6098120
Chromosome Location	chr20:53233625-53233626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:53231134..53234154-chr20:53242124..53244306,3	MCF-7	breast:
2	chr20:53228494..53230277-chr20:53231538..53234161,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs16999872	1.00[ASN][1000 genomes]
rs28663252	1.00[ASN][1000 genomes]
rs2870331	1.00[ASN][1000 genomes]
rs2870332	1.00[ASN][1000 genomes]
rs2904386	1.00[ASN][1000 genomes]
rs4324376	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4542911	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4581960	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4809968	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4811510	1.00[ASN][1000 genomes]
rs4811511	1.00[ASN][1000 genomes]
rs4811513	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4996783	1.00[ASN][1000 genomes]
rs58298733	1.00[ASN][1000 genomes]
rs60030360	1.00[ASN][1000 genomes]
rs6014078	1.00[ASN][1000 genomes]
rs6014080	1.00[ASN][1000 genomes]
rs6023397	1.00[ASN][1000 genomes]
rs6023398	1.00[ASN][1000 genomes]
rs6023400	1.00[ASN][1000 genomes]
rs6023401	1.00[ASN][1000 genomes]
rs6023403	1.00[ASN][1000 genomes]
rs6023406	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6023407	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6023408	1.00[ASN][1000 genomes]
rs6023409	1.00[ASN][1000 genomes]
rs6023410	1.00[ASN][1000 genomes]
rs6023428	1.00[ASN][1000 genomes]
rs6023430	1.00[ASN][1000 genomes]
rs6064093	1.00[ASN][1000 genomes]
rs6068916	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068920	1.00[ASN][1000 genomes]
rs6091928	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6091931	1.00[ASN][1000 genomes]
rs6098103	1.00[ASN][1000 genomes]
rs6098105	1.00[ASN][1000 genomes]
rs6098108	1.00[ASN][1000 genomes]
rs7261209	1.00[ASN][1000 genomes]
rs7263678	1.00[ASN][1000 genomes]
rs7263680	1.00[ASN][1000 genomes]
rs7269966	1.00[ASN][1000 genomes]
rs967377	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv1067497	chr20:53146241-53751820	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv1064144	chr20:53175264-53750137	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv544302	chr20:53175264-53750137	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv586282	chr20:53218978-53254815	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53204600-53240600	Weak transcription	Left Ventricle	heart
2	chr20:53215200-53236400	Weak transcription	Aorta	Aorta
3	chr20:53217000-53235800	Weak transcription	Brain Germinal Matrix	brain
4	chr20:53217400-53240600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:53221600-53239000	Weak transcription	Osteobl	bone
6	chr20:53227400-53235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr20:53227600-53235000	Weak transcription	Fetal Brain Male	brain
8	chr20:53227800-53239000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:53229000-53235800	Weak transcription	Fetal Lung	lung
10	chr20:53229200-53234600	Weak transcription	Fetal Muscle Leg	muscle
11	chr20:53229200-53240600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr20:53231400-53236000	Weak transcription	Fetal Brain Female	brain
13	chr20:53233200-53234000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr20:53233200-53237800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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