Variant report

Variant	rs6091938
Chromosome Location	chr20:53246310-53246311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16999757	1.00[CHD][hapmap]
rs57468096	1.00[EUR][1000 genomes]
rs57934635	1.00[EUR][1000 genomes]
rs6091930	1.00[EUR][1000 genomes]
rs6091935	1.00[EUR][1000 genomes]
rs6091940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6098119	1.00[EUR][1000 genomes]
rs6098129	1.00[CHD][hapmap]
rs8125542	1.00[MEX][hapmap]

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	chr20:53235200-53250400	Weak transcription	Psoas Muscle	Psoas
2	chr20:53236200-53250400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:53241400-53248200	Weak transcription	NHDF-Ad	bronchial
4	chr20:53241400-53249800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:53242200-53249000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr20:53242400-53248200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr20:53242400-53248800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr20:53242400-53249800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr20:53242400-53270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:53243000-53249600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr20:53243000-53249600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:53244600-53249600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr20:53244600-53249800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:53245600-53246400	Enhancers	Brain Germinal Matrix	brain
15	chr20:53245800-53246600	Weak transcription	Fetal Brain Male	brain
16	chr20:53245800-53246600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr20:53246000-53248000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:53246200-53246800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr20:53246200-53248200	Enhancers	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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