Variant report

Variant	rs28385348
Chromosome Location	chr5:148149020-148149021
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10038886	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10055423	1.00[EUR][1000 genomes]
rs10072157	1.00[EUR][1000 genomes]
rs10078988	1.00[EUR][1000 genomes]
rs10079055	1.00[EUR][1000 genomes]
rs10477391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10477392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10477393	1.00[EUR][1000 genomes]
rs11949281	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11955927	1.00[EUR][1000 genomes]
rs11957071	1.00[EUR][1000 genomes]
rs11958205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11958415	1.00[EUR][1000 genomes]
rs11960708	1.00[EUR][1000 genomes]
rs11960810	1.00[EUR][1000 genomes]
rs13358515	1.00[EUR][1000 genomes]
rs13360245	1.00[EUR][1000 genomes]
rs13360714	1.00[EUR][1000 genomes]
rs13362580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13436102	1.00[EUR][1000 genomes]
rs35894867	1.00[EUR][1000 genomes]
rs41381548	1.00[EUR][1000 genomes]
rs6580572	1.00[AMR][1000 genomes]
rs6580574	1.00[EUR][1000 genomes]
rs6580581	1.00[EUR][1000 genomes]
rs6864773	1.00[EUR][1000 genomes]
rs6867121	1.00[EUR][1000 genomes]
rs6883576	1.00[EUR][1000 genomes]
rs6884542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891709	1.00[EUR][1000 genomes]
rs764416	1.00[EUR][1000 genomes]
rs7704797	1.00[EUR][1000 genomes]
rs7710734	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7720203	1.00[EUR][1000 genomes]
rs9885585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs989875	1.00[EUR][1000 genomes]
rs989876	1.00[EUR][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	nsv883021	chr5:148060817-148182123	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv462481	chr5:148130138-148172689	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv599946	chr5:148130138-148172689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148139000-148149200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:148145000-148149400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:148145800-148149800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:148146600-148153400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:148146600-148153600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:148146600-148155600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:148148400-148149400	Enhancers	Liver	Liver
8	chr5:148148400-148149800	Enhancers	HMEC	breast
9	chr5:148148600-148149800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:148148800-148149400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:148148800-148149400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:148149000-148149800	Enhancers	NHEK	skin
13	chr5:148149000-148158000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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