Variant report

Variant	rs12596196
Chromosome Location	chr16:72896452-72896453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72896118..72897641-chr16:72899116..72900892,2	MCF-7	breast:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1035983	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1035984	0.89[AMR][1000 genomes]
rs10400973	1.00[AFR][1000 genomes]
rs10492826	0.89[AMR][1000 genomes]
rs11640709	0.81[JPT][hapmap]
rs12051226	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12103361	0.90[MEX][hapmap];0.91[AMR][1000 genomes]
rs12595874	1.00[MEX][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12597202	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12597703	1.00[ASW][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12598003	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12598048	0.91[AMR][1000 genomes]
rs12598858	0.91[AMR][1000 genomes]
rs12599442	1.00[ASW][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes]
rs12599589	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12600293	0.96[AMR][1000 genomes]
rs12921040	1.00[AFR][1000 genomes]
rs13332877	0.90[AMR][1000 genomes]
rs13333025	0.93[AMR][1000 genomes]
rs1366846	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1429431	0.80[AMR][1000 genomes]
rs1429432	0.80[AMR][1000 genomes]
rs1429434	1.00[AFR][1000 genomes]
rs1544964	1.00[AFR][1000 genomes]
rs16971279	0.91[AMR][1000 genomes]
rs16971281	0.91[AMR][1000 genomes]
rs16971287	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16971288	0.91[AMR][1000 genomes]
rs16971290	0.91[AMR][1000 genomes]
rs16971292	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16971306	1.00[ASW][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes]
rs16971312	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs16971314	0.96[AMR][1000 genomes]
rs16971315	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs16971318	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs16971321	1.00[ASW][hapmap];0.96[AMR][1000 genomes]
rs16971324	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971325	1.00[ASW][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1859593	0.85[AMR][1000 genomes]
rs1990096	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2040939	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2040940	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2043022	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2115625	1.00[AFR][1000 genomes]
rs2229286	1.00[ASW][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes]
rs2229290	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2266932	1.00[ASW][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2266934	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2266935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2266936	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2266938	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2266939	0.98[AMR][1000 genomes]
rs2266941	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2266942	0.98[AMR][1000 genomes]
rs2266944	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2358805	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2358811	0.91[AMR][1000 genomes]
rs2358812	0.91[AMR][1000 genomes]
rs292913	0.86[AMR][1000 genomes]
rs292914	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs292915	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs292916	0.84[AMR][1000 genomes]
rs292917	0.88[AMR][1000 genomes]
rs292918	0.86[AMR][1000 genomes]
rs292919	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs292920	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs292921	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs292922	0.88[AMR][1000 genomes]
rs292923	0.88[AMR][1000 genomes]
rs292924	0.88[AMR][1000 genomes]
rs292925	0.88[AMR][1000 genomes]
rs292926	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs292927	0.88[AMR][1000 genomes]
rs292928	0.88[AMR][1000 genomes]
rs292929	0.88[AMR][1000 genomes]
rs292930	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs292931	0.91[AMR][1000 genomes]
rs292932	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs292933	0.91[AMR][1000 genomes]
rs292934	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs292935	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs292937	0.91[AMR][1000 genomes]
rs292938	0.91[AMR][1000 genomes]
rs292939	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs292940	0.91[AMR][1000 genomes]
rs292941	0.91[AMR][1000 genomes]
rs292942	0.91[AMR][1000 genomes]
rs292943	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs292945	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs292946	0.91[AMR][1000 genomes]
rs292947	0.91[AMR][1000 genomes]
rs3812983	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs4238966	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4278755	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4788479	0.98[AMR][1000 genomes]
rs4788655	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4788657	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4788663	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4788664	1.00[ASW][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4788665	0.86[JPT][hapmap]
rs4788666	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4788667	1.00[ASW][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4788669	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59254438	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60974482	0.91[AMR][1000 genomes]
rs62053164	0.80[ASN][1000 genomes]
rs6416744	1.00[ASW][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499578	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6499579	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6499581	1.00[AFR][1000 genomes]
rs6499591	1.00[ASW][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6499592	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6499593	0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs714101	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs714102	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7187123	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7194567	1.00[AFR][1000 genomes]
rs7198782	0.85[AMR][1000 genomes]
rs7203232	0.80[AMR][1000 genomes]
rs7206490	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740176	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740177	0.81[JPT][hapmap];0.82[MEX][hapmap]
rs8044614	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs8059268	1.00[AFR][1000 genomes]
rs9302640	1.00[AFR][1000 genomes]
rs982799	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs9921081	0.93[AMR][1000 genomes]
rs9923006	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9933433	0.87[AMR][1000 genomes]
rs9934215	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv572959	chr16:72890216-72923327	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72883200-72899200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:72883200-72909200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:72883400-72898400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:72883400-72898600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:72883400-72908400	Weak transcription	Fetal Intestine Large	intestine
6	chr16:72883400-72918800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:72883600-72912200	Weak transcription	Ovary	ovary
8	chr16:72883800-72908800	Weak transcription	Hela-S3	cervix
9	chr16:72884200-72899200	Weak transcription	Liver	Liver
10	chr16:72884200-72902200	Weak transcription	Right Ventricle	heart
11	chr16:72884200-72911600	Weak transcription	Gastric	stomach
12	chr16:72885200-72909000	Weak transcription	Lung	lung
13	chr16:72885400-72898200	Weak transcription	A549	lung
14	chr16:72889200-72902400	Weak transcription	Spleen	Spleen
15	chr16:72889200-72908800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr16:72890400-72899000	Weak transcription	Aorta	Aorta
17	chr16:72891400-72908400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:72891800-72899200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:72892600-72900000	Weak transcription	Brain Angular Gyrus	brain
20	chr16:72892800-72897400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:72893000-72899200	Weak transcription	Left Ventricle	heart
22	chr16:72893000-72904000	Weak transcription	Pancreas	Pancrea
23	chr16:72893000-72909600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:72893200-72900600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:72893200-72911400	Weak transcription	Stomach Mucosa	stomach
26	chr16:72893400-72898800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr16:72893400-72909000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:72893600-72902600	Weak transcription	Adipose Nuclei	Adipose
29	chr16:72893600-72909000	Weak transcription	Colon Smooth Muscle	Colon
30	chr16:72893600-72909400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:72893800-72898400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:72893800-72898400	Weak transcription	Fetal Intestine Small	intestine
33	chr16:72893800-72899800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr16:72893800-72900000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr16:72893800-72907000	Weak transcription	Fetal Kidney	kidney
36	chr16:72893800-72909200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:72894000-72898400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:72894000-72899400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr16:72894200-72898400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:72894200-72898400	Weak transcription	HSMM	muscle
41	chr16:72894200-72898600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:72894200-72898800	Weak transcription	Fetal Stomach	stomach
43	chr16:72894200-72900400	Weak transcription	NHDF-Ad	bronchial
44	chr16:72894200-72906800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:72894200-72906800	Weak transcription	HSMMtube	muscle
46	chr16:72894400-72909200	Weak transcription	Fetal Lung	lung
47	chr16:72894800-72898400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr16:72895000-72906800	Weak transcription	NHLF	lung
49	chr16:72895200-72898400	Weak transcription	Osteobl	bone
50	chr16:72895200-72901000	Weak transcription	Brain Hippocampus Middle	brain

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