Variant report

Variant	rs158469
Chromosome Location	chr16:12426840-12426841
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	chr16:12426504..12430184-chr16:12432340..12435917,5	K562	blood:
2	chr16:12426103..12428836-chr16:12432217..12434096,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12102559	1.00[AMR][1000 genomes]
rs12103066	1.00[AMR][1000 genomes]
rs13339143	1.00[AMR][1000 genomes]
rs13339535	1.00[AMR][1000 genomes]
rs158471	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs158472	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs158476	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2080495	1.00[AMR][1000 genomes]
rs209838	1.00[AMR][1000 genomes]
rs2856769	1.00[AMR][1000 genomes]
rs28628495	1.00[AMR][1000 genomes]
rs28718927	1.00[AMR][1000 genomes]
rs289671	1.00[AMR][1000 genomes]
rs31677	1.00[AMR][1000 genomes]
rs40994	1.00[AMR][1000 genomes]
rs56696659	1.00[AMR][1000 genomes]
rs57924692	1.00[AMR][1000 genomes]
rs58963806	1.00[AMR][1000 genomes]
rs59930096	1.00[AMR][1000 genomes]
rs7198589	1.00[AMR][1000 genomes]
rs7200680	1.00[AMR][1000 genomes]
rs9924180	1.00[AMR][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	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
10	nsv571464	chr16:12423557-12449778	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12404200-12427400	Weak transcription	Primary T cells from cord blood	blood
3	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
4	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:12410200-12464800	Weak transcription	Gastric	stomach
6	chr16:12414400-12431400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:12414800-12432000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:12415000-12431600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:12415400-12435400	Weak transcription	Pancreas	Pancrea
10	chr16:12416200-12427600	Weak transcription	Thymus	Thymus
11	chr16:12416800-12438600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr16:12418400-12433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:12418400-12433400	Weak transcription	Brain Substantia Nigra	brain
14	chr16:12418400-12438400	Weak transcription	Brain Anterior Caudate	brain
15	chr16:12421600-12428400	Enhancers	Stomach Smooth Muscle	stomach
16	chr16:12422000-12432200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:12423800-12433600	Weak transcription	HSMMtube	muscle
18	chr16:12425000-12428800	Weak transcription	Left Ventricle	heart
19	chr16:12425000-12435400	Weak transcription	Right Atrium	heart
20	chr16:12425200-12433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr16:12425200-12433600	Weak transcription	Ovary	ovary
22	chr16:12425200-12442200	Weak transcription	Psoas Muscle	Psoas
23	chr16:12425400-12427400	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:12425400-12429200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:12425400-12429400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:12425400-12429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr16:12425400-12432000	Weak transcription	Adipose Nuclei	Adipose
28	chr16:12425400-12433200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:12425400-12433400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:12425400-12442000	Weak transcription	GM12878-XiMat	blood
31	chr16:12425600-12432400	Strong transcription	Primary B cells from cord blood	blood
32	chr16:12426000-12427800	Enhancers	Fetal Brain Male	brain
33	chr16:12426200-12427200	Weak transcription	Fetal Heart	heart
34	chr16:12426400-12428200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr16:12426400-12429400	Weak transcription	Fetal Brain Female	brain
36	chr16:12426600-12427800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr16:12426600-12428800	Weak transcription	Right Ventricle	heart
38	chr16:12426800-12427000	Weak transcription	Esophagus	oesophagus
39	chr16:12426800-12427600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:12426800-12431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:12426800-12433800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr16:12426800-12434800	Weak transcription	Fetal Muscle Leg	muscle
43	chr16:12426800-12447200	Weak transcription	Lung	lung

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