Variant report

Variant	rs1477119
Chromosome Location	chr16:12496943-12496944
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	chr16:12496114..12497637-chr16:12507756..12510093,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1019576	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10852347	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10852348	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11075070	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11641304	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11862378	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11864693	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12444279	0.80[ASN][1000 genomes]
rs12922243	0.84[EUR][1000 genomes]
rs12924360	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12926672	0.85[AMR][1000 genomes]
rs12927878	0.82[AMR][1000 genomes]
rs12932170	0.81[EUR][1000 genomes]
rs12932341	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16959555	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16959556	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1974905	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2098761	0.84[AMR][1000 genomes]
rs2865239	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35980136	0.82[AMR][1000 genomes]
rs3851015	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4780427	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4780428	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780429	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780431	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780432	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4780433	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4781220	0.92[ASN][1000 genomes]
rs4781221	0.92[ASN][1000 genomes]
rs4781222	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4781224	0.81[ASN][1000 genomes]
rs4781225	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4781226	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781227	0.85[AMR][1000 genomes]
rs4781229	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4781232	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4781233	0.82[AMR][1000 genomes]
rs6498286	0.91[EUR][1000 genomes]
rs6498288	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6498289	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6498292	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6498293	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6498294	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6498295	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6498296	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7187130	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7187313	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7187688	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7190294	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192229	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192339	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7192549	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7193128	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7198141	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7198154	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7199220	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7200172	0.80[ASN][1000 genomes]
rs8043724	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8046923	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8047108	0.82[AMR][1000 genomes]
rs8047934	0.82[AMR][1000 genomes]
rs8049186	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8053319	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8061365	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8062594	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs889809	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs889810	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs889811	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9745308	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9746199	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9746397	0.86[EUR][1000 genomes]
rs9746403	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
3	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
4	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
6	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
7	chr16:12480800-12497400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:12484600-12497200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:12485000-12497000	Weak transcription	NHLF	lung
11	chr16:12485000-12497400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:12485000-12501000	Weak transcription	NHEK	skin
13	chr16:12486400-12497400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:12487000-12497400	Weak transcription	Brain Anterior Caudate	brain
15	chr16:12487000-12497400	Weak transcription	Thymus	Thymus
16	chr16:12487000-12497800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:12487200-12497400	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:12487400-12497200	Weak transcription	Gastric	stomach
19	chr16:12487400-12497400	Weak transcription	Brain Substantia Nigra	brain
20	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr16:12487600-12497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:12487600-12497400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:12487600-12497400	Weak transcription	HSMMtube	muscle
24	chr16:12487800-12497200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr16:12487800-12499600	Weak transcription	Psoas Muscle	Psoas
26	chr16:12488000-12497400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr16:12488200-12499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:12489600-12501000	Weak transcription	NHDF-Ad	bronchial
29	chr16:12489800-12497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:12490200-12499400	Strong transcription	Primary T cells from cord blood	blood
31	chr16:12490400-12497400	Weak transcription	Liver	Liver
32	chr16:12491800-12497400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:12491800-12500400	Weak transcription	Right Atrium	heart
34	chr16:12492200-12497800	Weak transcription	Fetal Thymus	thymus
35	chr16:12492400-12497800	Weak transcription	Brain Germinal Matrix	brain
36	chr16:12492400-12501000	Weak transcription	Fetal Kidney	kidney
37	chr16:12492600-12497200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:12492600-12497400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr16:12492600-12497400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr16:12492800-12497200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:12492800-12497200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:12492800-12497600	Weak transcription	Ovary	ovary
43	chr16:12492800-12501000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:12492800-12501000	Weak transcription	Osteobl	bone
45	chr16:12493000-12498000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:12494200-12497200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:12494200-12497200	Weak transcription	Fetal Stomach	stomach
48	chr16:12494200-12497400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:12494200-12497400	Weak transcription	Aorta	Aorta
50	chr16:12494400-12497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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