Variant report

Variant	rs1035984
Chromosome Location	chr16:72757012-72757013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72748314..72750943-chr16:72756262..72758683,2	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs1035983	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10400973	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10492826	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075938	0.82[ASN][1000 genomes]
rs11075940	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12051226	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12051305	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12103361	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12595874	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12596196	0.89[AMR][1000 genomes]
rs12597202	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12597703	0.89[AMR][1000 genomes]
rs12598003	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12598048	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12598858	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12599442	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12599589	0.89[AMR][1000 genomes]
rs12600293	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12708932	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12921040	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13332877	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13333025	0.83[AMR][1000 genomes]
rs1366846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1366847	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1429431	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1429432	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1429433	0.86[ASN][1000 genomes]
rs1429434	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1544964	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16971279	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971281	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971287	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971288	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971290	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971292	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16971306	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16971312	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16971314	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971315	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16971318	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16971321	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971324	0.84[AMR][1000 genomes]
rs16971325	0.88[AMR][1000 genomes]
rs1859593	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1990096	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2040939	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2040940	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2043022	0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2115625	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2115626	0.86[ASN][1000 genomes]
rs2229286	0.88[AMR][1000 genomes]
rs2229290	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2266932	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2266934	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2266935	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2266936	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2266938	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2266939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2266941	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2266942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2266944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2358805	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2358811	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358812	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs292913	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292914	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292915	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292917	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292918	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292919	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292920	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292921	0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs292922	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292923	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292924	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292925	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292926	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292927	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292928	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292929	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs292930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292931	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292932	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292933	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292934	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292935	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292937	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292938	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs292939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292940	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292941	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs292942	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292943	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292945	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs292946	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292947	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3812983	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4238966	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4278755	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4788474	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4788479	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4788655	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4788657	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4788663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4788664	0.86[AMR][1000 genomes]
rs4788666	0.88[AMR][1000 genomes]
rs4788667	0.86[AMR][1000 genomes]
rs4788669	0.86[AMR][1000 genomes]
rs59254438	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60974482	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6416744	0.86[AMR][1000 genomes]
rs6499578	0.96[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6499579	0.95[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6499581	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6499591	0.86[AMR][1000 genomes]
rs6499592	0.86[AMR][1000 genomes]
rs6499593	0.88[AMR][1000 genomes]
rs714101	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs714102	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7187123	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7194567	0.87[ASN][1000 genomes]
rs7198782	0.84[ASN][1000 genomes]
rs7199644	0.87[ASN][1000 genomes]
rs7199653	0.87[ASN][1000 genomes]
rs7203205	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7203232	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7206490	0.84[AMR][1000 genomes]
rs740176	0.88[AMR][1000 genomes]
rs74028108	0.90[ASN][1000 genomes]
rs8044614	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8053419	0.87[ASN][1000 genomes]
rs8059268	0.87[ASN][1000 genomes]
rs9302640	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs982799	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921081	0.83[AMR][1000 genomes]
rs9923006	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9924937	0.86[ASN][1000 genomes]
rs9927280	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9933433	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9934215	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9935202	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9935250	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9936708	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs999210	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	esv1822094	chr16:72694760-72787961	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv572958	chr16:72696112-72778617	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72746400-72760800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:72747800-72757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr16:72750600-72757200	Weak transcription	Dnd41	blood
4	chr16:72750600-72763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:72754200-72759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:72755400-72757200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr16:72755400-72757400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:72755400-72757800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr16:72755600-72757200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:72755600-72758000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:72755600-72758000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:72756000-72757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:72756400-72757200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:72756400-72757200	Enhancers	Brain Substantia Nigra	brain
15	chr16:72756600-72759600	Weak transcription	Brain Germinal Matrix	brain
16	chr16:72756600-72760400	Weak transcription	K562	blood
17	chr16:72756800-72758000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr16:72756800-72758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:72757000-72757600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:72757000-72757600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr16:72757000-72758000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr16:72757000-72758000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr16:72757000-72758000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr16:72757000-72758000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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