Variant report

Variant	rs28697103
Chromosome Location	chr16:12631797-12631798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12444976	1.00[ASN][1000 genomes]
rs16959823	1.00[ASN][1000 genomes]
rs16959835	0.83[EUR][1000 genomes]
rs169774	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794305	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184127	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894967	1.00[ASN][1000 genomes]
rs210723	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157063	1.00[ASN][1000 genomes]
rs4781245	1.00[ASN][1000 genomes]
rs4781258	1.00[ASN][1000 genomes]
rs56275803	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59416912	1.00[ASN][1000 genomes]
rs62028167	1.00[ASN][1000 genomes]
rs62028255	1.00[ASN][1000 genomes]
rs62028256	1.00[ASN][1000 genomes]
rs62028257	1.00[ASN][1000 genomes]
rs62028660	1.00[ASN][1000 genomes]
rs6416654	1.00[ASN][1000 genomes]
rs6498319	1.00[ASN][1000 genomes]
rs7198031	1.00[ASN][1000 genomes]
rs7200834	1.00[ASN][1000 genomes]
rs72775223	1.00[ASN][1000 genomes]
rs72775229	1.00[ASN][1000 genomes]
rs72775241	1.00[ASN][1000 genomes]
rs74009122	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009123	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055769	1.00[ASN][1000 genomes]
rs8059085	1.00[ASN][1000 genomes]
rs8060370	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061129	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061662	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8062191	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924730	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
3	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
4	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
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1038535	chr16:12620736-12636982	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571465	chr16:12625395-12639800	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1045473	chr16:12625727-12636982	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1044975	chr16:12625727-12637363	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1041164	chr16:12625727-12637908	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1054084	chr16:12625727-12650247	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv431433	chr16:12628409-12654408	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12605800-12632200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr16:12606000-12632000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:12606200-12632400	Weak transcription	Right Atrium	heart
4	chr16:12608000-12632400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:12610000-12632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:12610800-12632200	Weak transcription	Psoas Muscle	Psoas
7	chr16:12611600-12632400	Weak transcription	Left Ventricle	heart
8	chr16:12612400-12632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
10	chr16:12619000-12632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:12619800-12632000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:12621000-12632400	Weak transcription	Adipose Nuclei	Adipose
13	chr16:12624000-12632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr16:12624000-12632400	Weak transcription	Aorta	Aorta
15	chr16:12624000-12632600	Weak transcription	Lung	lung
16	chr16:12625400-12633400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr16:12625600-12632400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr16:12625800-12643400	Weak transcription	Gastric	stomach
19	chr16:12626000-12632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:12626000-12632800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr16:12626200-12632200	Weak transcription	HepG2	liver
22	chr16:12626600-12634600	Weak transcription	Primary B cells from cord blood	blood
23	chr16:12626800-12636000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr16:12627000-12632200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:12627000-12632400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
27	chr16:12627200-12632000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:12627200-12632000	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:12627200-12632400	Weak transcription	Brain Angular Gyrus	brain
30	chr16:12627400-12632200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:12627400-12632200	Weak transcription	Brain Substantia Nigra	brain
32	chr16:12627400-12635800	Weak transcription	Fetal Brain Male	brain
33	chr16:12628200-12632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:12628200-12633400	Enhancers	Primary B cells from peripheral blood	blood
35	chr16:12630000-12632800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr16:12630200-12631800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr16:12630200-12633000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:12630200-12633000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr16:12630400-12637000	Weak transcription	Primary T cells from cord blood	blood
40	chr16:12630400-12638800	Weak transcription	Fetal Thymus	thymus
41	chr16:12630600-12632000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr16:12630600-12632400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr16:12630600-12632400	Enhancers	GM12878-XiMat	blood
44	chr16:12630600-12632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr16:12630600-12637200	Weak transcription	Spleen	Spleen
46	chr16:12631000-12632200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:12631000-12632200	Weak transcription	Esophagus	oesophagus
48	chr16:12631000-12633200	Enhancers	Colon Smooth Muscle	Colon
49	chr16:12631200-12632000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:12631200-12632200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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