Variant report

Variant	rs16928349
Chromosome Location	chr12:1416800-1416801
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	chr12:1414809..1417006-chr12:1420746..1423369,2	K562	blood:
2	chr12:1415506..1418642-chr12:1420432..1423739,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10400459	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16928350	0.80[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55705296	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55734408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56262248	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845904	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60601086	0.89[AFR][1000 genomes]
rs61061257	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6489279	0.85[YRI][hapmap]
rs7138201	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs7299789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057131	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057143	1.00[AMR][1000 genomes]
rs74057151	0.89[AFR][1000 genomes]
rs74057175	0.83[AFR][1000 genomes]
rs74057178	0.85[AFR][1000 genomes]
rs74057181	0.85[AFR][1000 genomes]
rs74057182	0.85[AFR][1000 genomes]
rs74057183	0.85[AFR][1000 genomes]
rs74057184	0.85[AFR][1000 genomes]
rs74057187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057191	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057196	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74057201	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7953630	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7967663	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970718	1.00[AMR][1000 genomes]
rs7979057	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9668524	0.85[AFR][1000 genomes]
rs9668608	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs9943851	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
9	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv1036488	chr12:1041097-1445923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv1037825	chr12:1045734-1432940	Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv541342	chr12:1045734-1432940	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	esv2762958	chr12:1049279-1554962	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
16	nsv898581	chr12:1084783-1527359	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
18	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
19	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	nsv1039826	chr12:1259831-1483326	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv930996	chr12:1270113-1473328	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv1050361	chr12:1274052-1541558	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv556944	chr12:1308553-1569097	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
25	nsv898583	chr12:1314430-1507616	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv470257	chr12:1314430-1514021	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
28	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
29	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1341800-1420000	Weak transcription	Esophagus	oesophagus
3	chr12:1366600-1418000	Weak transcription	Lung	lung
4	chr12:1369400-1427600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:1374200-1423200	Weak transcription	NHEK	skin
6	chr12:1375200-1419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:1387400-1453400	Weak transcription	Thymus	Thymus
8	chr12:1387600-1441400	Weak transcription	HepG2	liver
9	chr12:1391200-1434000	Weak transcription	A549	lung
10	chr12:1391600-1427800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:1391800-1421600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:1392400-1422200	Weak transcription	Ovary	ovary
13	chr12:1393200-1427400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:1395200-1428000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:1399000-1427600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:1399000-1428400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:1399600-1426600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:1400000-1427600	Weak transcription	Placenta	Placenta
19	chr12:1400400-1426800	Weak transcription	HMEC	breast
20	chr12:1400400-1427200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:1400400-1427200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:1400600-1425200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:1400800-1421400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:1401000-1427400	Weak transcription	HSMM	muscle
25	chr12:1401200-1418000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:1401200-1425400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:1401200-1427200	Weak transcription	Liver	Liver
28	chr12:1401600-1427200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:1402600-1427800	Weak transcription	Small Intestine	intestine
30	chr12:1404800-1419400	Weak transcription	Left Ventricle	heart
31	chr12:1404800-1427400	Weak transcription	Brain Anterior Caudate	brain
32	chr12:1404800-1442600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:1405000-1421400	Weak transcription	Fetal Thymus	thymus
34	chr12:1405000-1422200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:1407000-1427600	Weak transcription	Fetal Kidney	kidney
36	chr12:1407200-1418000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:1407800-1424200	Weak transcription	Fetal Stomach	stomach
38	chr12:1409600-1423400	Weak transcription	Fetal Brain Female	brain
39	chr12:1409600-1424000	Weak transcription	Fetal Intestine Large	intestine
40	chr12:1409600-1424200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:1410000-1420000	Weak transcription	Fetal Lung	lung
42	chr12:1410200-1426800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:1410600-1426800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:1410800-1427200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:1412000-1428000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:1412800-1420000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:1413800-1424200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:1413800-1427400	Weak transcription	Brain Substantia Nigra	brain
49	chr12:1413800-1447600	Weak transcription	Gastric	stomach
50	chr12:1414200-1420400	Weak transcription	Stomach Mucosa	stomach

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