Variant report

Variant	rs8049589
Chromosome Location	chr16:30839729-30839730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30838352..30840109-chr16:30843617..30845692,2	K562	blood:
2	chr16:30838714..30840881-chr16:30843458..30846272,2	MCF-7	breast:
3	chr16:30837941..30839852-chr16:30843371..30845692,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10782000	1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	1.00[AMR][1000 genomes]
rs1550477	1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	1.00[AMR][1000 genomes]
rs2099755	1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	1.00[AMR][1000 genomes]
rs2919432	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972815	1.00[AMR][1000 genomes]
rs4617878	1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889500	1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889504	1.00[AMR][1000 genomes]
rs4889505	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889508	1.00[AMR][1000 genomes]
rs4889510	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889511	0.85[AFR][1000 genomes]
rs4889528	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565208	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565210	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7185136	1.00[AMR][1000 genomes]
rs7188077	1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[AMR][1000 genomes]
rs7195612	0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045624	1.00[AMR][1000 genomes]
rs8046609	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8050578	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893926	1.00[AMR][1000 genomes]
rs893927	1.00[AMR][1000 genomes]
rs9921630	1.00[AMR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs9941300	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
12	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
13	nsv1060384	chr16:30802415-30878838	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv1059633	chr16:30803099-30867916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30826400-30844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:30832400-30844600	Weak transcription	Ovary	ovary
3	chr16:30835800-30840400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr16:30835800-30840600	Weak transcription	Fetal Intestine Small	intestine
5	chr16:30835800-30840600	Weak transcription	Stomach Mucosa	stomach
6	chr16:30835800-30840800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:30836000-30850600	Weak transcription	Esophagus	oesophagus
8	chr16:30836600-30840600	Weak transcription	Fetal Intestine Large	intestine
9	chr16:30836600-30845400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:30837000-30844000	Weak transcription	Gastric	stomach
11	chr16:30837200-30849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:30839000-30842000	Weak transcription	Fetal Stomach	stomach

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