Variant report

Variant	rs4994571
Chromosome Location	chr17:45936126-45936127
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45927036..45931880-chr17:45931939..45936922,11	K562	blood:
2	chr17:45930221..45932836-chr17:45934311..45936272,2	MCF-7	breast:
3	chr17:45934921..45937833-chr17:45952289..45955225,2	MCF-7	breast:
4	chr17:45933613..45936211-chr17:45944971..45946687,2	K562	blood:
5	chr17:45927380..45931249-chr17:45931939..45938449,12	K562	blood:
6	chr17:45910559..45913334-chr17:45936113..45939006,2	MCF-7	breast:
7	chr17:45924109..45925732-chr17:45935306..45937324,2	K562	blood:
8	chr17:45935034..45937614-chr17:45970378..45973831,4	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12452366	0.91[ASN][1000 genomes]
rs35598018	0.91[ASN][1000 genomes]
rs4362431	0.93[ASN][1000 genomes]
rs8064241	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9303536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904820	0.92[ASN][1000 genomes]
rs9910474	0.93[ASN][1000 genomes]
rs9912331	0.93[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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4994571	OSBPL7	cis	Thyroid	GTEx
rs4994571	LRRC46	cis	Thyroid	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45929800-45940000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:45933400-45937000	Weak transcription	Spleen	Spleen
3	chr17:45934200-45936600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:45934400-45940000	Weak transcription	Lung	lung
5	chr17:45935200-45939600	Weak transcription	Placenta	Placenta
6	chr17:45935600-45936400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:45935600-45936600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:45935800-45936200	Weak transcription	K562	blood
9	chr17:45935800-45942200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:45935800-45946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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

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