Variant report

Variant	rs36478
Chromosome Location	chr16:46791218-46791219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs168745	0.86[ASW][hapmap];0.90[MKK][hapmap]
rs36463	0.86[ASW][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs36473	1.00[ASW][hapmap];0.90[MKK][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes]
rs41232	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs449778	0.86[ASW][hapmap];0.90[MKK][hapmap]
rs794557	0.86[ASW][hapmap];0.90[MKK][hapmap]
rs794558	0.90[MKK][hapmap]
rs808428	1.00[ASW][hapmap];0.80[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	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
11	nsv1067038	chr16:46721805-46797514	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv1066472	chr16:46721805-46801769	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1065253	chr16:46721805-46824369	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46777600-46798200	Weak transcription	Spleen	Spleen
2	chr16:46789000-46794200	Enhancers	Fetal Muscle Leg	muscle
3	chr16:46789400-46791600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr16:46790000-46791400	Active TSS	Right Ventricle	heart
5	chr16:46790200-46791400	Flanking Active TSS	Fetal Heart	heart
6	chr16:46790200-46792000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:46790200-46792200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr16:46790400-46792400	Enhancers	K562	blood
9	chr16:46790400-46792600	Enhancers	Placenta	Placenta
10	chr16:46790600-46791600	Enhancers	Lung	lung
11	chr16:46790600-46792000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr16:46790600-46792000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:46790600-46792800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:46790600-46793000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:46790600-46793200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr16:46790800-46791800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr16:46790800-46792000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:46790800-46792000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:46790800-46792000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:46790800-46792600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:46790800-46792600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:46791000-46791400	Enhancers	HSMM	muscle
23	chr16:46791000-46791600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr16:46791000-46791600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:46791000-46791600	Bivalent Enhancer	HepG2	liver
26	chr16:46791000-46791800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:46791000-46791800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:46791000-46792000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:46791000-46792600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:46791000-46792600	Enhancers	Fetal Lung	lung
31	chr16:46791000-46797000	Weak transcription	Psoas Muscle	Psoas
32	chr16:46791000-46823400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:46791200-46791400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:46791200-46791600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr16:46791200-46791800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:46791200-46791800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr16:46791200-46791800	Weak transcription	Right Atrium	heart
38	chr16:46791200-46791800	Enhancers	HMEC	breast
39	chr16:46791200-46792000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr16:46791200-46792200	Weak transcription	Left Ventricle	heart
41	chr16:46791200-46792800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr16:46791200-46793200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr16:46791200-46793400	Enhancers	HUES6 Cell Line	embryonic stem cell

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