Variant report

Variant	rs6014094
Chromosome Location	chr20:53250909-53250910
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2208074	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2904386	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4811513	0.85[EUR][1000 genomes]
rs6014081	0.85[CEU][hapmap]
rs6014096	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6023407	0.84[CEU][hapmap]
rs6023423	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6023428	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6023429	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6098124	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7263678	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1060552	chr20:53234716-53655115	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53242400-53270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:53246600-53251000	Enhancers	Fetal Brain Male	brain
3	chr20:53249600-53252200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr20:53249600-53259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:53249800-53251000	Enhancers	Primary B cells from peripheral blood	blood
6	chr20:53249800-53252200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:53250000-53251000	Enhancers	Fetal Muscle Leg	muscle
8	chr20:53250200-53251000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:53250400-53251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:53250600-53251800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr20:53250600-53255600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr20:53250600-53255800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr20:53250600-53259800	Weak transcription	Fetal Brain Female	brain
14	chr20:53250800-53251000	Enhancers	GM12878-XiMat	blood
15	chr20:53250800-53252000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr20:53250800-53252200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr20:53250800-53256800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr20:53250800-53256800	Weak transcription	Brain Germinal Matrix	brain
19	chr20:53250800-53260000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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