Variant report

Variant	rs8096630
Chromosome Location	chr18:9319075-9319076
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9318662..9320883-chr18:9399469..9402396,2	K562	blood:
2	chr18:9316802..9319275-chr18:9474125..9476676,2	MCF-7	breast:
3	chr18:9315114..9319116-chr18:9321910..9324742,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP4R1-2	chr18:9318628-9319118	XLOC_012754
2	lnc-PPP4R1-2	chr18:9318644-9319179	XLOC_012754
3	lnc-PPP4R1-2	chr18:9318631-9319179	XLOC_012754

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1046483	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10502391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1114591	0.93[ASN][1000 genomes]
rs11659948	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12326829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1443597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1443598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16954886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16954905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16954914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17413344	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17498752	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs17498969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17499116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1899668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2120316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2298548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28520663	0.86[ASN][1000 genomes]
rs28619483	0.93[ASN][1000 genomes]
rs28637808	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2864515	0.82[ASN][1000 genomes]
rs28820062	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28844999	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213925	0.86[ASN][1000 genomes]
rs3744822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3744823	0.86[ASN][1000 genomes]
rs4356535	0.86[ASN][1000 genomes]
rs4449017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4490062	0.82[ASN][1000 genomes]
rs5011606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs56996721	0.82[ASN][1000 genomes]
rs57567668	0.93[ASN][1000 genomes]
rs59018067	0.86[ASN][1000 genomes]
rs59616258	0.86[ASN][1000 genomes]
rs59633812	0.86[ASN][1000 genomes]
rs59864974	0.93[ASN][1000 genomes]
rs60119987	0.86[ASN][1000 genomes]
rs60143204	0.82[ASN][1000 genomes]
rs60354371	0.86[ASN][1000 genomes]
rs62085951	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62087470	0.80[ASN][1000 genomes]
rs6506651	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7229105	0.82[ASN][1000 genomes]
rs7234017	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7235358	0.86[ASN][1000 genomes]
rs7237039	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242002	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242624	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937244	0.82[ASN][1000 genomes]
rs72937245	0.82[ASN][1000 genomes]
rs72937248	0.82[ASN][1000 genomes]
rs72937250	0.82[ASN][1000 genomes]
rs72937258	0.86[ASN][1000 genomes]
rs72937259	0.86[ASN][1000 genomes]
rs72937263	0.86[ASN][1000 genomes]
rs72937267	0.86[ASN][1000 genomes]
rs72937270	0.86[ASN][1000 genomes]
rs72937287	0.86[ASN][1000 genomes]
rs72937291	0.86[ASN][1000 genomes]
rs72937297	0.86[ASN][1000 genomes]
rs72937301	0.86[ASN][1000 genomes]
rs72937302	0.86[ASN][1000 genomes]
rs72939207	0.86[ASN][1000 genomes]
rs72939211	0.86[ASN][1000 genomes]
rs72939216	0.86[ASN][1000 genomes]
rs72939219	0.86[ASN][1000 genomes]
rs72939220	0.86[ASN][1000 genomes]
rs72939221	0.86[ASN][1000 genomes]
rs72939224	0.86[ASN][1000 genomes]
rs72939227	0.86[ASN][1000 genomes]
rs72939230	0.86[ASN][1000 genomes]
rs72939231	0.86[ASN][1000 genomes]
rs72939232	0.86[ASN][1000 genomes]
rs72939235	0.86[ASN][1000 genomes]
rs72939239	0.86[ASN][1000 genomes]
rs7505002	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7506375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8089057	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098516	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8099583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9748485	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9312600-9322600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9313400-9320800	Weak transcription	NHLF	lung
3	chr18:9313400-9321600	Weak transcription	Gastric	stomach
4	chr18:9317800-9320200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:9318000-9320600	Weak transcription	Fetal Stomach	stomach
6	chr18:9318200-9322400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:9318800-9321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:9319000-9321200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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