Variant report

Variant	rs16976742
Chromosome Location	chr18:11847834-11847835
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11844070..11848990-chr18:11849011..11853292,8	K562	blood:
2	chr18:11846170..11848283-chr18:11856731..11858262,2	K562	blood:
3	chr18:11754391..11755995-chr18:11847330..11848928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255112	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000141404	Chromatin interaction
ENSG00000272703	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1249628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976749	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3885902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4371220	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5018698	0.95[ASN][1000 genomes]
rs5018699	0.95[ASN][1000 genomes]
rs5018701	0.95[ASN][1000 genomes]
rs5018702	0.95[ASN][1000 genomes]
rs5018703	0.95[ASN][1000 genomes]
rs5018704	0.95[ASN][1000 genomes]
rs61462499	0.95[ASN][1000 genomes]
rs62097389	0.95[ASN][1000 genomes]
rs715688	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7228231	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7233271	0.82[ASN][1000 genomes]
rs7241172	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7241199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7241336	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73409587	0.95[ASN][1000 genomes]
rs73409590	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73944918	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73944920	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr18:11825400-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr18:11830800-11849000	Weak transcription	A549	lung
3	chr18:11837400-11849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:11837400-11849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:11840400-11849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:11841000-11849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:11841000-11849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:11841200-11849400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11845000-11849200	Weak transcription	HMEC	breast
10	chr18:11846800-11848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:11847000-11848200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:11847200-11849600	Enhancers	Hela-S3	cervix
13	chr18:11847800-11848400	Enhancers	K562	blood
14	chr18:11847800-11849800	Weak transcription	Right Atrium	heart

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