Variant report

Variant	rs476267
Chromosome Location	chr16:12417476-12417477
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11075061	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11644788	0.81[EUR][1000 genomes]
rs11645864	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11648255	0.88[EUR][1000 genomes]
rs11648926	0.88[EUR][1000 genomes]
rs11861914	0.83[EUR][1000 genomes]
rs12102400	0.87[EUR][1000 genomes]
rs12102608	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12445569	0.80[EUR][1000 genomes]
rs13335852	0.81[EUR][1000 genomes]
rs158467	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16959318	0.91[EUR][1000 genomes]
rs176717	0.84[EUR][1000 genomes]
rs209836	0.83[EUR][1000 genomes]
rs209839	0.80[EUR][1000 genomes]
rs209845	0.81[EUR][1000 genomes]
rs209846	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209849	0.85[EUR][1000 genomes]
rs209850	0.85[EUR][1000 genomes]
rs209851	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs209853	0.87[EUR][1000 genomes]
rs209855	0.85[EUR][1000 genomes]
rs209856	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2856771	0.86[EUR][1000 genomes]
rs289673	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31679	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4780419	0.82[EUR][1000 genomes]
rs4780422	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780423	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4781201	0.80[EUR][1000 genomes]
rs4781202	0.80[EUR][1000 genomes]
rs4781207	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4781208	0.85[EUR][1000 genomes]
rs4781209	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs512286	0.83[EUR][1000 genomes]
rs540972	0.82[EUR][1000 genomes]
rs544598	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544673	0.83[EUR][1000 genomes]
rs62039994	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6498278	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6498279	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7184477	0.87[EUR][1000 genomes]
rs7189945	0.80[EUR][1000 genomes]
rs7190509	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7195981	0.83[EUR][1000 genomes]
rs7197417	0.81[EUR][1000 genomes]
rs7199556	0.81[EUR][1000 genomes]
rs7200289	0.82[EUR][1000 genomes]
rs7201621	0.88[EUR][1000 genomes]
rs7500910	0.82[EUR][1000 genomes]
rs8051010	0.80[EUR][1000 genomes]
rs8051758	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8063991	0.83[EUR][1000 genomes]
rs869289	0.82[EUR][1000 genomes]
rs905950	0.81[EUR][1000 genomes]
rs9284322	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9302469	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9630612	0.81[EUR][1000 genomes]
rs9939036	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv827555	chr16:12413244-12429978	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
3	chr16:12404200-12427400	Weak transcription	Primary T cells from cord blood	blood
4	chr16:12405600-12426400	Weak transcription	Lung	lung
5	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
6	chr16:12405800-12417800	Weak transcription	Adipose Nuclei	Adipose
7	chr16:12409400-12417600	Weak transcription	Fetal Intestine Small	intestine
8	chr16:12409400-12417800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:12410200-12424400	Weak transcription	Right Atrium	heart
11	chr16:12410200-12464800	Weak transcription	Gastric	stomach
12	chr16:12413800-12418000	Weak transcription	NHEK	skin
13	chr16:12414400-12417800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:12414400-12418000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:12414400-12418200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:12414400-12431400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:12414600-12417800	Weak transcription	NHDF-Ad	bronchial
18	chr16:12414600-12418200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:12414600-12418200	Weak transcription	Fetal Stomach	stomach
20	chr16:12414800-12432000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:12415000-12424600	Weak transcription	Esophagus	oesophagus
22	chr16:12415000-12431600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:12415400-12417800	Weak transcription	Fetal Muscle Leg	muscle
24	chr16:12415400-12435400	Weak transcription	Pancreas	Pancrea
25	chr16:12415600-12421400	Weak transcription	Right Ventricle	heart
26	chr16:12415600-12425200	Weak transcription	Primary B cells from cord blood	blood
27	chr16:12415800-12418000	Weak transcription	Left Ventricle	heart
28	chr16:12415800-12421800	Weak transcription	Fetal Heart	heart
29	chr16:12416000-12417600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
30	chr16:12416000-12418200	Weak transcription	HepG2	liver
31	chr16:12416000-12423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:12416200-12427600	Weak transcription	Thymus	Thymus
33	chr16:12416400-12417800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:12416800-12438600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr16:12417000-12417800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr16:12417000-12418400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:12417000-12418800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:12417200-12417600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr16:12417200-12417600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr16:12417200-12417600	ZNF genes & repeats	GM12878-XiMat	blood
41	chr16:12417200-12417800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:12417200-12417800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:12417200-12417800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr16:12417200-12417800	Enhancers	Brain Hippocampus Middle	brain
45	chr16:12417200-12417800	Enhancers	Dnd41	blood
46	chr16:12417200-12418000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:12417200-12418000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:12417200-12418000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr16:12417200-12418000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:12417200-12418200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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