Variant report

Variant	rs2266941
Chromosome Location	chr16:72853393-72853394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72853198..72855829-chr16:72881479..72883914,2	MCF-7	breast:
2	chr16:72847211..72849527-chr16:72851126..72854062,2	K562	blood:
3	chr16:72850720..72853694-chr16:72859587..72861277,2	MCF-7	breast:
4	chr16:72845812..72849527-chr16:72851126..72854512,3	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1035984	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10400973	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs10492826	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11075938	0.83[AFR][1000 genomes]
rs11075940	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12051226	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12051305	0.94[ASN][1000 genomes]
rs12103361	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12445485	1.00[AFR][1000 genomes]
rs12595874	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12596196	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12597202	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12597703	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12598003	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12598048	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12598858	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12599442	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12599589	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12600293	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12708932	1.00[AFR][1000 genomes]
rs12921040	1.00[AFR][1000 genomes]
rs13332877	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13333025	0.91[AMR][1000 genomes]
rs1366846	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1366847	1.00[AFR][1000 genomes]
rs1429431	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1429432	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1429433	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1429434	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs1529527	1.00[AFR][1000 genomes]
rs1544964	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs16971279	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16971281	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971287	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971288	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971290	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16971292	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16971306	0.94[CHB][hapmap];0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16971312	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971314	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16971315	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971318	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16971321	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16971324	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16971325	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs1859593	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1990096	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2040939	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2040940	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2043022	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2115625	1.00[AFR][1000 genomes]
rs2163067	1.00[AFR][1000 genomes]
rs2229286	0.94[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2229290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2266932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266934	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266935	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266936	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266938	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2266939	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2266942	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2266944	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2358805	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2358811	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2358812	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2884552	1.00[AFR][1000 genomes]
rs292913	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292914	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292915	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292916	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292917	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292918	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292919	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292920	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292921	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292922	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292923	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292924	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292925	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292926	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292927	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292928	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292929	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs292930	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs292931	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292932	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292933	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292934	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292935	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292937	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292938	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs292939	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs292940	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292941	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292942	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs292943	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs292945	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs292946	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs292947	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3812983	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4238966	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4278755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4788474	1.00[AFR][1000 genomes]
rs4788479	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788655	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788657	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788663	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788664	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4788666	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4788667	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4788669	0.95[AMR][1000 genomes]
rs59254438	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60974482	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6416744	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6499575	1.00[AFR][1000 genomes]
rs6499576	1.00[AFR][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6499579	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6499581	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs6499591	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs6499592	0.95[AMR][1000 genomes]
rs6499593	0.96[AMR][1000 genomes]
rs714101	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs714102	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7192128	1.00[AFR][1000 genomes]
rs7194567	1.00[AFR][1000 genomes]
rs7198782	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7203232	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7206490	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs740176	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs74028108	0.94[ASN][1000 genomes]
rs8044614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8053419	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs8059268	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs9302640	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes]
rs982799	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9921081	0.91[AMR][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9927280	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9933433	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9934215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9935202	1.00[AFR][1000 genomes]
rs9935250	1.00[AFR][1000 genomes]
rs9936708	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs999210	0.89[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr16:72822800-72855600	Weak transcription	Thymus	Thymus
4	chr16:72832200-72858400	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
6	chr16:72833600-72856000	Weak transcription	Primary B cells from cord blood	blood
7	chr16:72833600-72861000	Weak transcription	Hela-S3	cervix
8	chr16:72833800-72861800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:72835000-72853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:72835200-72860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:72835200-72867400	Weak transcription	NHEK	skin
14	chr16:72842800-72853800	Weak transcription	Psoas Muscle	Psoas
15	chr16:72845600-72855000	Weak transcription	Fetal Lung	lung
16	chr16:72845600-72858800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:72845600-72861400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:72845600-72861600	Weak transcription	Fetal Kidney	kidney
19	chr16:72845600-72869400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:72845600-72874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:72845800-72853400	Weak transcription	Lung	lung
22	chr16:72845800-72862200	Weak transcription	Colonic Mucosa	Colon
23	chr16:72845800-72863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr16:72845800-72863200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:72845800-72865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:72845800-72867000	Weak transcription	Ovary	ovary
27	chr16:72846000-72858400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:72846000-72858800	Weak transcription	Fetal Intestine Small	intestine
29	chr16:72846000-72860800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:72846000-72861400	Weak transcription	Placenta	Placenta
31	chr16:72846000-72861400	Weak transcription	Left Ventricle	heart
32	chr16:72846000-72861600	Weak transcription	Gastric	stomach
33	chr16:72846000-72863200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr16:72846200-72853400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:72846200-72853400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr16:72846200-72856600	Weak transcription	HUVEC	blood vessel
37	chr16:72846200-72858800	Weak transcription	A549	lung
38	chr16:72846600-72861400	Weak transcription	Fetal Intestine Large	intestine
39	chr16:72846600-72863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:72846800-72860800	Weak transcription	Adipose Nuclei	Adipose
41	chr16:72847000-72861600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:72847600-72858800	Weak transcription	Liver	Liver
43	chr16:72848400-72861400	Weak transcription	Aorta	Aorta
44	chr16:72848400-72861400	Weak transcription	Pancreas	Pancrea
45	chr16:72848400-72874200	Weak transcription	Right Ventricle	heart
46	chr16:72849800-72855800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:72850000-72861400	Weak transcription	GM12878-XiMat	blood
48	chr16:72850600-72853400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:72851000-72854800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr16:72851400-72854200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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