Variant report

Variant	rs10048315
Chromosome Location	chr18:11802302-11802303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11760947..11763375-chr18:11800729..11802861,2	K562	blood:
2	chr18:11797685..11800645-chr18:11801246..11803919,2	K562	blood:
3	chr18:11799981..11803304-chr18:11803781..11805742,3	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10048316	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153319	0.97[ASN][1000 genomes]
rs10164166	0.85[ASN][1000 genomes]
rs10401100	0.92[ASN][1000 genomes]
rs10401123	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10468681	0.86[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs11080534	0.91[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs12457787	0.84[ASN][1000 genomes]
rs12606210	0.89[ASN][1000 genomes]
rs12608311	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12962767	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12965108	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12965256	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12965697	0.82[ASN][1000 genomes]
rs1364632	0.95[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs1364633	0.97[ASN][1000 genomes]
rs1477481	0.91[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs1477482	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1614379	0.82[CHB][hapmap]
rs1647553	0.85[CHB][hapmap]
rs1647558	0.81[CHB][hapmap]
rs16976671	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1786563	0.86[CHB][hapmap]
rs1786564	0.82[CHB][hapmap]
rs1786566	0.81[CHB][hapmap]
rs1786567	0.82[CHB][hapmap]
rs2161961	0.86[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4239301	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57498102	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57555937	0.85[ASN][1000 genomes]
rs57940204	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58285951	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58359702	0.99[ASN][1000 genomes]
rs58935072	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59661164	0.95[ASN][1000 genomes]
rs61636989	0.95[ASN][1000 genomes]
rs7240632	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7240684	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72865283	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72865294	0.87[ASN][1000 genomes]
rs72867020	0.92[ASN][1000 genomes]
rs72867032	0.93[ASN][1000 genomes]
rs72867073	0.97[ASN][1000 genomes]
rs73403552	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098496	0.85[ASN][1000 genomes]
rs9303748	0.91[CHB][hapmap];0.93[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9303749	0.95[CHB][hapmap];0.87[JPT][hapmap];0.99[ASN][1000 genomes]
rs9944667	0.87[ASN][1000 genomes]
rs9944802	0.92[ASN][1000 genomes]
rs9945211	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9962277	0.91[CHB][hapmap];0.93[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9972997	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3405851	chr18:11801752-11806050	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11785600-11802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11785800-11805200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:11789400-11807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:11790600-11809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:11791800-11806600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:11792000-11805800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr18:11796200-11806600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:11798400-11806600	Weak transcription	A549	lung
10	chr18:11798600-11805400	Weak transcription	Hela-S3	cervix
11	chr18:11799000-11807000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:11801000-11803200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:11801000-11803200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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