Variant report

Variant	rs546550441
Chromosome Location	chr16:30287601-30287602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817565	chr16:29439269-30332014	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
2	nsv533011	chr16:29452333-30334631	Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
3	nsv817450	chr16:29478059-30332014	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
4	nsv916456	chr16:29478060-30332569	Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
5	nsv1057705	chr16:29517699-30306956	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
6	nsv1064865	chr16:29517699-30320308	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
7	nsv916657	chr16:29590554-30332014	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
8	nsv1067735	chr16:29592783-30332581	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
9	nsv529109	chr16:29592783-30332581	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
10	nsv916238	chr16:29592791-30332569	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription 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 miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
11	nsv916382	chr16:29620689-30332014	Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
12	nsv431445	chr16:29652488-30328317	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
13	nsv817378	chr16:29656684-30332591	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
14	nsv533014	chr16:29656684-30334631	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
15	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
16	nsv948506	chr16:29673203-30320307	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
17	nsv1067742	chr16:29673954-30332581	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
18	nsv533015	chr16:29673954-30332581	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
19	nsv533272	chr16:29673967-30332569	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
20	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
21	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
22	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
23	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
24	esv1833288	chr16:30192562-30317178	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
25	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
26	esv21428	chr16:30197831-30305244	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
27	esv1810780	chr16:30198079-30320296	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
28	esv1830409	chr16:30198079-30345291	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
29	esv12853	chr16:30199661-30346806	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
30	esv1812498	chr16:30200317-30321503	Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
31	esv1825106	chr16:30200317-30321503	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
32	esv1804277	chr16:30200317-30323725	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
33	esv1811407	chr16:30206038-30346558	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
34	esv1829695	chr16:30254410-30335960	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
35	esv1805420	chr16:30254410-30345836	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
36	esv1844310	chr16:30257763-30310151	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
37	esv1825225	chr16:30258820-30303402	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
38	esv3427338	chr16:30264251-30293149	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
39	nsv978131	chr16:30269117-30347376	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
40	esv1802585	chr16:30278225-30344810	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30273600-30295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr16:30277200-30288000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:30278000-30287800	Weak transcription	Adipose Nuclei	Adipose
4	chr16:30278000-30289600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:30278000-30289600	Weak transcription	Fetal Thymus	thymus
6	chr16:30278000-30289600	Weak transcription	Left Ventricle	heart
7	chr16:30278000-30290200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:30278000-30294200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:30278000-30295800	Weak transcription	Thymus	Thymus
10	chr16:30278000-30314800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:30278000-30319600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:30278000-30319800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:30278000-30320200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:30278200-30289600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr16:30278200-30290000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:30278200-30290000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:30278600-30319600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:30286000-30288000	Weak transcription	Placenta	Placenta
19	chr16:30286000-30345400	Weak transcription	Fetal Stomach	stomach
20	chr16:30286200-30287800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:30286200-30287800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:30286200-30289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr16:30286200-30295200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:30286200-30297000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr16:30286200-30317600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr16:30286400-30288000	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:30286400-30289600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:30286400-30327800	Weak transcription	Fetal Intestine Small	intestine
29	chr16:30286600-30289200	Weak transcription	Brain Germinal Matrix	brain
30	chr16:30286600-30294600	Weak transcription	Colonic Mucosa	Colon
31	chr16:30286600-30295800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:30286600-30297800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr16:30286800-30289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:30286800-30289000	Weak transcription	Fetal Intestine Large	intestine
35	chr16:30287000-30289400	Weak transcription	Brain Anterior Caudate	brain
36	chr16:30287200-30288000	Weak transcription	Aorta	Aorta
37	chr16:30287400-30288000	Weak transcription	Small Intestine	intestine
38	chr16:30287400-30288400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr16:30287400-30288600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:30287600-30287800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:30287600-30287800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:30287600-30287800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:30287600-30288000	Enhancers	Osteobl	bone
44	chr16:30287600-30288200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr16:30287600-30288200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:30287600-30288200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:30287600-30288200	Enhancers	Hela-S3	cervix
48	chr16:30287600-30288400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr16:30287600-30288400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:30287600-30288400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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