Variant report

Variant	rs562345042
Chromosome Location	chr16:46855523-46855524
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	chr16:46852133..46853769-chr16:46855489..46857597,2	K562	blood:
2	chr16:46854177..46856451-chr16:46859236..46861575,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	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
9	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
10	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
11	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
12	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
13	esv3351528	chr16:46853500-46877470	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46824600-46856000	Weak transcription	Ovary	ovary
2	chr16:46824600-46863800	Weak transcription	Aorta	Aorta
3	chr16:46829000-46863400	Weak transcription	Fetal Stomach	stomach
4	chr16:46829600-46857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:46829600-46860000	Weak transcription	Fetal Brain Male	brain
6	chr16:46831600-46863000	Weak transcription	Fetal Muscle Leg	muscle
7	chr16:46831600-46863800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:46832800-46856000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:46833600-46863000	Weak transcription	Fetal Thymus	thymus
10	chr16:46833600-46864200	Weak transcription	Pancreas	Pancrea
11	chr16:46834200-46863800	Weak transcription	Placenta	Placenta
12	chr16:46834600-46863800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr16:46834800-46857600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr16:46835000-46862800	Weak transcription	HSMMtube	muscle
15	chr16:46836800-46863000	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:46837000-46857600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:46837000-46863000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:46839600-46855800	Weak transcription	Small Intestine	intestine
19	chr16:46840000-46856000	Weak transcription	HSMM	muscle
20	chr16:46840000-46857200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:46840200-46863800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:46841600-46863000	Weak transcription	Thymus	Thymus
23	chr16:46842000-46857200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:46842400-46857600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr16:46844000-46860600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:46844200-46856200	Weak transcription	NH-A	brain
27	chr16:46844200-46860200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr16:46844200-46862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:46844200-46863200	Weak transcription	Adipose Nuclei	Adipose
30	chr16:46844400-46856000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:46844400-46856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:46844400-46860200	Weak transcription	Fetal Lung	lung
33	chr16:46844400-46860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:46844600-46860200	Weak transcription	HUVEC	blood vessel
35	chr16:46845000-46860000	Weak transcription	HepG2	liver
36	chr16:46845200-46863000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:46845200-46863400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr16:46848400-46864200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:46848600-46862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:46849200-46855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:46849200-46860400	Weak transcription	Primary T cells from cord blood	blood
42	chr16:46849200-46862800	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:46849200-46863000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr16:46849800-46857600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:46849800-46859200	Weak transcription	Liver	Liver
46	chr16:46850000-46860200	Weak transcription	Brain Germinal Matrix	brain
47	chr16:46850000-46860600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:46850200-46856000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr16:46850400-46855800	Weak transcription	NHEK	skin
50	chr16:46850400-46856400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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