Variant report

Variant	rs2098761
Chromosome Location	chr16:12502188-12502189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10852347	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10852348	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11075070	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11862378	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11864693	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12444071	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12448347	0.80[ASN][1000 genomes]
rs12924360	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12926226	0.80[ASN][1000 genomes]
rs12926672	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12927878	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12932341	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1477119	0.84[AMR][1000 genomes]
rs16959555	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16959556	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35980136	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3851015	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4780427	0.80[AMR][1000 genomes]
rs4780428	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4780429	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4780431	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4780432	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4780433	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4781222	0.81[AMR][1000 genomes]
rs4781225	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4781226	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4781227	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781229	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4781231	0.80[ASN][1000 genomes]
rs4781232	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4781233	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6498292	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6498293	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6498294	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6498295	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6498296	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7187313	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7187688	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7190294	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7192229	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7192339	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7193128	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7198141	0.83[AMR][1000 genomes]
rs7198154	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8043724	0.81[AMR][1000 genomes]
rs8046923	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8047108	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8047934	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8052297	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8061365	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8062594	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs889809	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs889810	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs889811	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9745308	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9746199	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9746403	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active 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	9 gene(s)	inside rSNPs	diseases
5	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1046002	chr16:12482003-12510643	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
2	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr16:12496000-12503400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:12496600-12502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:12497200-12502200	Enhancers	Primary hematopoietic stem cells	blood
7	chr16:12497800-12505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:12497800-12519600	Weak transcription	Brain Anterior Caudate	brain
9	chr16:12497800-12539800	Weak transcription	Left Ventricle	heart
10	chr16:12498000-12506800	Weak transcription	HSMMtube	muscle
11	chr16:12498000-12510800	Weak transcription	Spleen	Spleen
12	chr16:12498000-12511600	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:12498000-12515400	Weak transcription	Pancreas	Pancrea
14	chr16:12498000-12518600	Weak transcription	Fetal Intestine Small	intestine
15	chr16:12498000-12541200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr16:12498200-12504200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr16:12498200-12504200	Weak transcription	Thymus	Thymus
18	chr16:12498200-12505400	Weak transcription	Gastric	stomach
19	chr16:12498200-12506000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:12498200-12510600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:12498200-12513200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr16:12498200-12517200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:12498400-12505400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:12498400-12506000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:12498400-12513800	Weak transcription	Aorta	Aorta
26	chr16:12498400-12514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:12498400-12514800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:12498400-12516200	Weak transcription	Fetal Stomach	stomach
29	chr16:12498400-12518800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:12498400-12523200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:12498400-12523600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr16:12498400-12523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr16:12498400-12564600	Weak transcription	Esophagus	oesophagus
34	chr16:12498600-12507400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr16:12498800-12516600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:12498800-12523800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr16:12499200-12511800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr16:12499200-12518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:12499400-12504200	Weak transcription	Fetal Thymus	thymus
40	chr16:12499400-12505400	Weak transcription	Adipose Nuclei	Adipose
41	chr16:12499400-12505800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr16:12499400-12512800	Weak transcription	Brain Substantia Nigra	brain
43	chr16:12499400-12517200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:12499400-12527000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:12499600-12512800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr16:12500600-12502400	Enhancers	HepG2	liver
47	chr16:12500800-12502200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:12500800-12502200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:12500800-12503200	Enhancers	Placenta	Placenta
50	chr16:12501000-12510400	Weak transcription	Lung	lung

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