Variant report

Variant	rs2721248
Chromosome Location	chr8:87158965-87158966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87158000..87159505-chr8:87212329..87214750,2	MCF-7	breast:
2	chr8:87148080..87151991-chr8:87158630..87162519,5	MCF-7	breast:
3	chr8:87153824..87155791-chr8:87158636..87161687,3	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10097379	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10098631	0.83[JPT][hapmap]
rs10099368	0.83[JPT][hapmap]
rs10102252	0.87[JPT][hapmap]
rs10103166	0.86[JPT][hapmap]
rs10106391	0.83[JPT][hapmap]
rs10106497	0.87[JPT][hapmap]
rs10112076	0.83[JPT][hapmap]
rs10112474	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10504819	0.82[JPT][hapmap]
rs10956188	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956207	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777902	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11988449	0.82[JPT][hapmap]
rs12541053	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs12546618	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12682430	0.80[JPT][hapmap]
rs13254996	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13257877	0.86[JPT][hapmap]
rs13262822	0.82[JPT][hapmap]
rs13265507	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs13267067	0.83[JPT][hapmap]
rs13272356	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs13280528	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs13281890	0.87[JPT][hapmap]
rs13282492	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1384878	0.81[JPT][hapmap]
rs1384879	0.82[JPT][hapmap]
rs16887456	0.82[JPT][hapmap]
rs2318396	0.82[JPT][hapmap]
rs2626333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2626335	0.80[ASN][1000 genomes]
rs2626337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2626338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2626341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2626343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2721252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2721254	0.80[ASN][1000 genomes]
rs2721255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4076881	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4311641	0.87[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4443642	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4571715	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4596629	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4596630	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4960953	0.82[JPT][hapmap]
rs4960955	0.81[JPT][hapmap]
rs4960959	0.82[JPT][hapmap]
rs4961077	0.81[JPT][hapmap]
rs4961092	0.86[JPT][hapmap]
rs6470428	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6470714	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs6470733	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs67091588	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6990782	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs6993377	0.82[JPT][hapmap]
rs6996246	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6999252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7001674	0.86[JPT][hapmap]
rs7001699	0.91[JPT][hapmap]
rs7010778	0.81[ASN][1000 genomes]
rs7016268	0.87[JPT][hapmap]
rs7017607	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7350116	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7821560	0.87[JPT][hapmap]
rs7836003	0.81[JPT][hapmap]
rs7837251	0.83[JPT][hapmap]
rs9643132	0.81[JPT][hapmap]
rs9643143	0.87[JPT][hapmap]
rs9969464	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv611674	chr8:87156172-87315920	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87156600-87162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87158000-87160600	Enhancers	Stomach Mucosa	stomach
3	chr8:87158200-87160400	Enhancers	Pancreas	Pancrea
4	chr8:87158400-87161200	Enhancers	Fetal Intestine Large	intestine
5	chr8:87158600-87161200	Enhancers	Fetal Intestine Small	intestine
6	chr8:87158800-87159200	Enhancers	Liver	Liver
7	chr8:87158800-87159400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr8:87158800-87159400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:87158800-87160400	Enhancers	Gastric	stomach

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