Variant report

Variant	rs438275
Chromosome Location	chr16:46841115-46841116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10902629	1.00[AMR][1000 genomes]
rs11860636	1.00[AMR][1000 genomes]
rs12598707	1.00[AMR][1000 genomes]
rs1466170	1.00[AMR][1000 genomes]
rs1530895	1.00[AMR][1000 genomes]
rs1542292	1.00[AMR][1000 genomes]
rs1641120	1.00[AMR][1000 genomes]
rs1645939	1.00[AMR][1000 genomes]
rs1651658	1.00[AMR][1000 genomes]
rs1651659	1.00[AMR][1000 genomes]
rs166096	1.00[AMR][1000 genomes]
rs168745	1.00[AMR][1000 genomes]
rs1698957	1.00[AMR][1000 genomes]
rs185213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1865837	1.00[AMR][1000 genomes]
rs1865838	1.00[AMR][1000 genomes]
rs194054	1.00[AMR][1000 genomes]
rs194055	1.00[AMR][1000 genomes]
rs1992075	1.00[AMR][1000 genomes]
rs1992078	1.00[AMR][1000 genomes]
rs2033673	1.00[AMR][1000 genomes]
rs2034599	1.00[AMR][1000 genomes]
rs250420	1.00[AMR][1000 genomes]
rs250421	1.00[AMR][1000 genomes]
rs252723	1.00[AMR][1000 genomes]
rs252724	1.00[AMR][1000 genomes]
rs252725	1.00[AMR][1000 genomes]
rs252727	1.00[AMR][1000 genomes]
rs252728	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252732	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252733	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs252734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28185	1.00[AMR][1000 genomes]
rs36309	1.00[AMR][1000 genomes]
rs36311	1.00[AMR][1000 genomes]
rs36313	1.00[AMR][1000 genomes]
rs36314	1.00[AMR][1000 genomes]
rs36317	1.00[AMR][1000 genomes]
rs36459	1.00[AMR][1000 genomes]
rs36461	1.00[AMR][1000 genomes]
rs36463	1.00[AMR][1000 genomes]
rs36465	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36466	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36470	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36473	1.00[AMR][1000 genomes]
rs36474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs396907	0.96[AFR][1000 genomes]
rs40164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs408906	1.00[AMR][1000 genomes]
rs41232	1.00[AMR][1000 genomes]
rs414928	1.00[AMR][1000 genomes]
rs420560	1.00[AMR][1000 genomes]
rs425556	1.00[AMR][1000 genomes]
rs449778	1.00[AMR][1000 genomes]
rs4966571	1.00[AMR][1000 genomes]
rs4966603	1.00[AMR][1000 genomes]
rs4967248	1.00[AMR][1000 genomes]
rs4967259	1.00[AMR][1000 genomes]
rs4967594	1.00[AMR][1000 genomes]
rs4967595	1.00[AMR][1000 genomes]
rs62057622	1.00[AMR][1000 genomes]
rs633699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637583	1.00[AMR][1000 genomes]
rs6598661	1.00[AMR][1000 genomes]
rs6598679	1.00[AMR][1000 genomes]
rs6598781	1.00[AMR][1000 genomes]
rs695997	1.00[AMR][1000 genomes]
rs698417	1.00[AMR][1000 genomes]
rs698419	1.00[AMR][1000 genomes]
rs700580	1.00[AMR][1000 genomes]
rs700581	1.00[AMR][1000 genomes]
rs7184436	1.00[AMR][1000 genomes]
rs7192389	1.00[AMR][1000 genomes]
rs7198683	1.00[AMR][1000 genomes]
rs7206393	1.00[AMR][1000 genomes]
rs794283	1.00[AMR][1000 genomes]
rs794557	1.00[AMR][1000 genomes]
rs794558	1.00[AMR][1000 genomes]
rs794559	1.00[AMR][1000 genomes]
rs797016	1.00[AMR][1000 genomes]
rs8044120	1.00[AMR][1000 genomes]
rs8046818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8047302	1.00[AMR][1000 genomes]
rs8048535	1.00[AMR][1000 genomes]
rs8049734	1.00[AMR][1000 genomes]
rs8059285	1.00[AMR][1000 genomes]
rs808428	1.00[AMR][1000 genomes]
rs808436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811196	1.00[AMR][1000 genomes]
rs811267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs937659	1.00[AMR][1000 genomes]
rs9922581	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9924386	1.00[AMR][1000 genomes]
rs9925083	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv1067283	chr16:46801709-46885218	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv1797464	chr16:46820464-46857454	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46824400-46846800	Weak transcription	Left Ventricle	heart
2	chr16:46824400-46847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:46824600-46843200	Weak transcription	HUVEC	blood vessel
4	chr16:46824600-46843600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:46824600-46843800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:46824600-46856000	Weak transcription	Ovary	ovary
7	chr16:46824600-46863800	Weak transcription	Aorta	Aorta
8	chr16:46824800-46843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:46824800-46843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:46824800-46843600	Weak transcription	NH-A	brain
11	chr16:46824800-46843600	Weak transcription	Osteobl	bone
12	chr16:46825000-46855200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr16:46825400-46843400	Weak transcription	K562	blood
14	chr16:46829000-46843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:46829000-46855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:46829000-46863400	Weak transcription	Fetal Stomach	stomach
17	chr16:46829200-46843400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:46829200-46843400	Weak transcription	A549	lung
19	chr16:46829600-46857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:46829600-46860000	Weak transcription	Fetal Brain Male	brain
21	chr16:46831000-46843400	Weak transcription	Fetal Kidney	kidney
22	chr16:46831200-46843600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:46831200-46843600	Weak transcription	Adipose Nuclei	Adipose
24	chr16:46831200-46843600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:46831400-46841200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:46831600-46843200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:46831600-46843400	Weak transcription	Fetal Intestine Small	intestine
28	chr16:46831600-46854600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:46831600-46863000	Weak transcription	Fetal Muscle Leg	muscle
30	chr16:46831600-46863800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:46831800-46843400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr16:46832600-46843600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:46832800-46856000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:46833600-46863000	Weak transcription	Fetal Thymus	thymus
35	chr16:46833600-46864200	Weak transcription	Pancreas	Pancrea
36	chr16:46834200-46845000	Weak transcription	Fetal Brain Female	brain
37	chr16:46834200-46863800	Weak transcription	Placenta	Placenta
38	chr16:46834600-46863800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:46834800-46854600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:46834800-46857600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:46835000-46855200	Weak transcription	Psoas Muscle	Psoas
42	chr16:46835000-46862800	Weak transcription	HSMMtube	muscle
43	chr16:46835600-46843800	Weak transcription	Stomach Mucosa	stomach
44	chr16:46835800-46841200	Weak transcription	Fetal Heart	heart
45	chr16:46835800-46843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:46836400-46843000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr16:46836800-46843400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:46836800-46845200	Weak transcription	Esophagus	oesophagus
49	chr16:46836800-46848800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr16:46836800-46863000	Weak transcription	Colon Smooth Muscle	Colon

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