Variant report

Variant	rs10871393
Chromosome Location	chr16:80704010-80704011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr16:80703641-80704118	GM12878	blood:	n/a	n/a
2	RUNX3	chr16:80703858-80704504	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80702290..80705033-chr16:80707661..80710306,2	MCF-7	breast:
2	chr16:80695632..80702044-chr16:80703955..80710409,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265341	TF binding region
ENSG00000265341	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1026247	0.87[AMR][1000 genomes]
rs10514505	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10514506	0.87[AMR][1000 genomes]
rs10747208	0.84[AMR][1000 genomes]
rs1077885	0.88[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1077886	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10871392	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10871394	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150298	0.87[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes]
rs11150299	0.88[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11150300	0.83[CEU][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes]
rs11150301	0.90[AMR][1000 genomes]
rs11150302	0.86[AMR][1000 genomes]
rs11643733	0.87[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11859496	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11863297	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12447921	0.91[AMR][1000 genomes]
rs17752269	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2084866	0.88[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2316148	0.83[AMR][1000 genomes]
rs2316152	0.85[CEU][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2873084	0.91[CEU][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35732345	0.90[AMR][1000 genomes]
rs4889193	0.84[CEU][hapmap]
rs4889194	0.84[CEU][hapmap]
rs55653646	0.88[AMR][1000 genomes]
rs56032204	0.86[AMR][1000 genomes]
rs62049933	0.87[EUR][1000 genomes]
rs6564778	0.85[CEU][hapmap]
rs6564779	0.83[AMR][1000 genomes]
rs7187646	0.83[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7190973	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7192094	0.88[CEU][hapmap];0.91[AMR][1000 genomes]
rs7195952	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7200113	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8047972	0.83[AMR][1000 genomes]
rs8048068	0.84[AMR][1000 genomes]
rs8052730	0.84[AMR][1000 genomes]
rs8055424	0.86[AMR][1000 genomes]
rs8057515	0.88[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs896627	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs896628	0.87[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs896629	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930743	0.91[AMR][1000 genomes]
rs930744	0.83[AMR][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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1058764	chr16:80656966-80707848	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv1815070	chr16:80697870-80725811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv10393	chr16:80702889-80705178	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80674400-80707600	Weak transcription	Placenta	Placenta
2	chr16:80687000-80716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
4	chr16:80690600-80728000	Weak transcription	Gastric	stomach
5	chr16:80691000-80704400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr16:80696600-80705200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:80699400-80723000	Weak transcription	HUVEC	blood vessel
8	chr16:80701200-80705200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:80701200-80706400	Strong transcription	Hela-S3	cervix
10	chr16:80701400-80704600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:80701400-80705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:80701400-80705200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:80701600-80705000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:80701600-80705000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:80701600-80717800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:80702200-80705200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:80702600-80704400	Weak transcription	Fetal Intestine Small	intestine
18	chr16:80703200-80707000	Enhancers	Primary B cells from peripheral blood	blood
19	chr16:80703400-80705000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr16:80703400-80723400	Weak transcription	Esophagus	oesophagus
21	chr16:80703600-80704600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr16:80703800-80704400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr16:80703800-80704600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr16:80703800-80704600	Weak transcription	Spleen	Spleen
25	chr16:80703800-80705200	Enhancers	GM12878-XiMat	blood
26	chr16:80703800-80713600	Weak transcription	Lung	lung
27	chr16:80704000-80705000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:80704000-80706600	Enhancers	Primary B cells from cord blood	blood

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