Variant report

Variant	rs8049734
Chromosome Location	chr16:46895000-46895001
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46892340..46895420-chr16:46933101..46936147,3	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10902629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860636	1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	1.00[AMR][1000 genomes]
rs185213	1.00[AMR][1000 genomes]
rs1865837	1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	1.00[AMR][1000 genomes]
rs1992078	1.00[AMR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs250420	1.00[AMR][1000 genomes]
rs250421	1.00[AMR][1000 genomes]
rs252723	1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[AMR][1000 genomes]
rs252728	1.00[AMR][1000 genomes]
rs252732	1.00[AMR][1000 genomes]
rs252733	1.00[AMR][1000 genomes]
rs252734	1.00[AMR][1000 genomes]
rs28185	1.00[AMR][1000 genomes]
rs36309	1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[AMR][1000 genomes]
rs36314	1.00[AMR][1000 genomes]
rs36317	1.00[AMR][1000 genomes]
rs36459	1.00[AMR][1000 genomes]
rs36461	1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	1.00[AMR][1000 genomes]
rs36466	1.00[AMR][1000 genomes]
rs36467	1.00[AMR][1000 genomes]
rs36470	1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	1.00[AMR][1000 genomes]
rs36475	1.00[AMR][1000 genomes]
rs36477	1.00[AMR][1000 genomes]
rs36482	1.00[AMR][1000 genomes]
rs40164	1.00[AMR][1000 genomes]
rs408906	1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs438275	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4966571	1.00[AMR][1000 genomes]
rs4966603	1.00[AMR][1000 genomes]
rs4967248	1.00[AMR][1000 genomes]
rs4967259	1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	1.00[AMR][1000 genomes]
rs698417	1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	1.00[AMR][1000 genomes]
rs700581	1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8046818	1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808428	1.00[AMR][1000 genomes]
rs808436	1.00[AMR][1000 genomes]
rs811196	1.00[AMR][1000 genomes]
rs811267	1.00[AMR][1000 genomes]
rs811734	1.00[AMR][1000 genomes]
rs937659	1.00[AMR][1000 genomes]
rs9922581	1.00[AMR][1000 genomes]
rs9924386	1.00[AMR][1000 genomes]
rs9925083	1.00[AMR][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	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers 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	54 gene(s)	inside rSNPs	diseases
6	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1795793	chr16:46882046-46904119	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46886200-46905600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:46887600-46896800	Enhancers	HepG2	liver
3	chr16:46888400-46896600	Weak transcription	Pancreas	Pancrea
4	chr16:46888400-46913400	Weak transcription	Esophagus	oesophagus
5	chr16:46890400-46902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:46892200-46897000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:46892600-46896600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr16:46892600-46896600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr16:46892600-46896800	Weak transcription	Psoas Muscle	Psoas
10	chr16:46893400-46895000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:46893600-46898200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:46894000-46895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:46894400-46896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:46894400-46896800	Weak transcription	Stomach Mucosa	stomach
15	chr16:46894400-46897600	Weak transcription	HSMMtube	muscle
16	chr16:46894400-46898200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:46894800-46896600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:46894800-46896800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:46894800-46897600	Weak transcription	A549	lung
20	chr16:46894800-46897600	Weak transcription	Hela-S3	cervix
21	chr16:46894800-46897600	Weak transcription	HMEC	breast
22	chr16:46894800-46897600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:46894800-46898000	Weak transcription	NHEK	skin
24	chr16:46894800-46898400	Weak transcription	HUVEC	blood vessel
25	chr16:46895000-46896800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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