Variant report

Variant	rs2229290
Chromosome Location	chr16:72831652-72831653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72831368..72833819-chr16:72834182..72835910,2	K562	blood:
2	chr16:72826799..72829741-chr16:72831093..72833068,2	MCF-7	breast:
3	chr16:72830940..72832501-chr16:72837266..72838916,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1035984	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10400973	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10492826	0.91[AMR][1000 genomes];1.00[EUR][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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12051305	0.94[ASN][1000 genomes]
rs12103361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12445485	1.00[AFR][1000 genomes]
rs12595874	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][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];1.00[EUR][1000 genomes]
rs12597703	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12598003	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12598048	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12598858	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12599442	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12599589	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12600293	0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12708932	1.00[AFR][1000 genomes]
rs12921040	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13332877	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13333025	0.91[AMR][1000 genomes]
rs1366846	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][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];0.84[ASN][1000 genomes]
rs1429434	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1529527	1.00[AFR][1000 genomes]
rs1544964	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16971279	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971281	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971287	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971288	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971292	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971306	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971314	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16971318	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16971321	0.98[AMR][1000 genomes];1.00[EUR][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];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1990096	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2043022	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2115625	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2163067	1.00[AFR][1000 genomes]
rs2229286	0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2266932	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2266934	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2266935	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2266936	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266938	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2266941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2266942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2266944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2358805	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2358811	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2358812	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884552	1.00[AFR][1000 genomes]
rs2914768	1.00[AFR][1000 genomes]
rs2914770	1.00[AFR][1000 genomes]
rs2914772	1.00[AFR][1000 genomes]
rs2914773	1.00[AFR][1000 genomes]
rs292913	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292914	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292915	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292916	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292917	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292918	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292919	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292920	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][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];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292923	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292924	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292925	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292926	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292927	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292928	0.89[AMR][1000 genomes];1.00[EUR][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];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs292931	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292932	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292933	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292934	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292935	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292937	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292938	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs292939	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs292940	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs292941	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs292942	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs292943	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs292945	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs292946	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292947	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2967238	1.00[AFR][1000 genomes]
rs3812983	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4238966	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4278755	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4788474	1.00[AFR][1000 genomes]
rs4788479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788655	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4788657	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4788663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60974482	0.93[AMR][1000 genomes];1.00[EUR][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[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6499581	1.00[AFR][1000 genomes];1.00[EUR][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[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs714102	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][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[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8059268	1.00[AFR][1000 genomes]
rs9302640	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs982799	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9921081	0.91[AMR][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927280	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9933433	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9934215	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[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72821600-72835800	Strong transcription	Liver	Liver
2	chr16:72821600-72842800	Strong transcription	HepG2	liver
3	chr16:72821800-72835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:72822000-72847000	Weak transcription	Small Intestine	intestine
5	chr16:72822200-72831800	Weak transcription	Fetal Kidney	kidney
6	chr16:72822200-72835800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:72822200-72836400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
9	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr16:72822400-72831800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:72822400-72832600	Weak transcription	HUVEC	blood vessel
12	chr16:72822400-72832800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:72822400-72834200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:72822400-72844600	Weak transcription	NHDF-Ad	bronchial
15	chr16:72822600-72832200	Weak transcription	Primary B cells from cord blood	blood
16	chr16:72822600-72833200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:72822800-72834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:72822800-72834000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr16:72822800-72834200	Weak transcription	Fetal Brain Male	brain
20	chr16:72822800-72834400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:72822800-72835000	Weak transcription	Primary T cells from cord blood	blood
22	chr16:72822800-72835800	Strong transcription	Fetal Intestine Large	intestine
23	chr16:72822800-72840400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:72822800-72840800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:72822800-72855600	Weak transcription	Thymus	Thymus
26	chr16:72823000-72839400	Weak transcription	Fetal Thymus	thymus
27	chr16:72823200-72834000	Strong transcription	HSMMtube	muscle
28	chr16:72823400-72834400	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr16:72823400-72834600	Strong transcription	Placenta	Placenta
30	chr16:72823400-72835600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:72823400-72836000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:72823600-72832000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:72823800-72832600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:72823800-72834200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:72823800-72834200	Strong transcription	Adipose Nuclei	Adipose
36	chr16:72823800-72835000	Strong transcription	A549	lung
37	chr16:72824600-72833600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:72825200-72834200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:72825200-72847600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:72825400-72832800	Strong transcription	Fetal Intestine Small	intestine
41	chr16:72826000-72833800	Strong transcription	Fetal Muscle Leg	muscle
42	chr16:72826400-72834000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr16:72826600-72833600	Strong transcription	NHLF	lung
44	chr16:72826800-72834200	Strong transcription	Osteobl	bone
45	chr16:72826800-72840600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr16:72827000-72832600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:72827000-72832800	Strong transcription	Lung	lung
48	chr16:72827000-72833000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:72827000-72833000	Strong transcription	Pancreas	Pancrea
50	chr16:72827000-72833400	Strong transcription	Aorta	Aorta

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