Variant report

Variant	rs2318396
Chromosome Location	chr8:87137847-87137848
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:87137737..87138511-chr8:87318980..87319543,2	MCF-7	breast:
2	chr8:87136719..87138131-chr8:87367839..87369514,19	MCF-7	breast:
3	chr8:87135891..87139399-chr8:87360674..87363160,4	MCF-7	breast:
4	chr8:87137319..87138908-chr8:87366057..87368311,2	MCF-7	breast:
5	chr8:87129568..87131142-chr8:87137421..87139422,2	MCF-7	breast:
6	chr8:87136101..87138942-chr8:87140052..87142177,2	MCF-7	breast:
7	chr8:87136992..87138056-chr8:87367918..87369461,8	MCF-7	breast:
8	chr8:87136993..87137993-chr8:87368613..87369555,5	K562	blood:
9	chr8:87136561..87139259-chr8:87368853..87370693,2	K562	blood:
10	chr8:87120472..87122608-chr8:87135195..87138128,3	MCF-7	breast:
11	chr8:87134524..87140628-chr8:87352938..87357440,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254231	Chromatin interaction
ENSG00000123124	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10090377	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10097379	0.82[JPT][hapmap]
rs10098631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10099368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10101407	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10102252	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10103166	0.83[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.90[YRI][hapmap];0.85[ASN][1000 genomes]
rs10106391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10106497	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs10112076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504819	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11988449	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs12541053	0.87[JPT][hapmap]
rs12546618	0.87[JPT][hapmap]
rs12677162	0.81[ASN][1000 genomes]
rs12682430	0.87[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs13254996	0.82[JPT][hapmap]
rs13257877	0.87[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13260768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13265507	0.86[JPT][hapmap]
rs13267067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13272356	0.87[JPT][hapmap]
rs13274057	0.88[ASN][1000 genomes]
rs13280528	0.87[JPT][hapmap]
rs13281890	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs13282492	0.87[JPT][hapmap]
rs1351777	0.88[ASN][1000 genomes]
rs1384878	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];0.85[ASN][1000 genomes]
rs1384879	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs16881545	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs16883602	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs16887456	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1872135	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1968869	0.87[ASN][1000 genomes]
rs2318936	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2626333	0.82[JPT][hapmap]
rs2626337	0.82[JPT][hapmap]
rs2626338	0.82[JPT][hapmap]
rs2626341	0.82[JPT][hapmap]
rs2626343	0.82[JPT][hapmap]
rs2721248	0.82[JPT][hapmap]
rs2721252	0.82[JPT][hapmap]
rs2721255	0.82[JPT][hapmap]
rs28415682	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2873692	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35216834	0.81[ASN][1000 genomes]
rs35910910	0.82[ASN][1000 genomes]
rs4076881	0.87[JPT][hapmap]
rs4311641	0.87[JPT][hapmap]
rs4443642	0.87[JPT][hapmap]
rs4571715	0.87[JPT][hapmap]
rs4960953	0.87[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4960954	0.87[ASN][1000 genomes]
rs4960955	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs4960959	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961068	0.86[CHB][hapmap]
rs4961074	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs4961077	0.95[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4961078	0.82[ASN][1000 genomes]
rs4961092	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs60506092	0.83[ASN][1000 genomes]
rs6470428	0.86[JPT][hapmap]
rs6981194	0.83[ASN][1000 genomes]
rs6993377	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6999252	0.82[JPT][hapmap]
rs7001674	0.87[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs7001699	0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7016268	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs7017607	0.87[JPT][hapmap]
rs7350116	0.87[JPT][hapmap]
rs7813508	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7821560	0.87[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7836003	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7837251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7846145	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9643132	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs9643143	0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs9643144	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv2761443	chr8:87109368-87170814	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1020115	chr8:87111707-87167790	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1026646	chr8:87111707-87177368	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87136400-87144200	Weak transcription	Fetal Heart	heart
2	chr8:87136600-87140800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:87137400-87142800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:87137400-87142800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:87137600-87138000	Enhancers	Liver	Liver

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