Variant report

Variant	rs542142529
Chromosome Location	chr16:47526003-47526004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:47525470..47528929-chr16:47529310..47531688,3	K562	blood:
2	chr16:47521997..47524877-chr16:47525537..47527944,2	K562	blood:
3	chr16:47493908..47496119-chr16:47525530..47527640,2	K562	blood:
4	chr16:47516457..47520432-chr16:47524851..47526977,4	K562	blood:

Variant related genes	Relation type
ENSG00000129636	Chromatin interaction
ENSG00000102893	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
8	nsv533068	chr16:47354593-47559639	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv833217	chr16:47358148-47527655	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv1822041	chr16:47399460-47569732	Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv572537	chr16:47411203-47599502	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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	16 gene(s)	inside rSNPs	diseases
15	nsv1059367	chr16:47524706-47586335	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv2761905	chr16:47524718-47586347	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47496200-47526400	Weak transcription	Pancreas	Pancrea
2	chr16:47496200-47532000	Weak transcription	Ovary	ovary
3	chr16:47496200-47538400	Weak transcription	NH-A	brain
4	chr16:47498200-47527800	Weak transcription	Small Intestine	intestine
5	chr16:47498800-47526400	Weak transcription	Esophagus	oesophagus
6	chr16:47499000-47526400	Weak transcription	Fetal Stomach	stomach
7	chr16:47502400-47533200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:47504600-47526400	Weak transcription	Aorta	Aorta
9	chr16:47511800-47526600	Weak transcription	NHLF	lung
10	chr16:47516000-47526400	Weak transcription	Right Ventricle	heart
11	chr16:47518800-47531600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:47519400-47527200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:47521000-47536400	Weak transcription	HSMMtube	muscle
14	chr16:47521400-47526200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr16:47521400-47527000	ZNF genes & repeats	Liver	Liver
16	chr16:47521600-47526200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:47524600-47526200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr16:47524600-47526400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:47524600-47545800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr16:47524800-47526400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr16:47524800-47526400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:47525200-47526200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:47525200-47526400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr16:47525200-47526400	Weak transcription	Psoas Muscle	Psoas
25	chr16:47525200-47527000	Flanking Active TSS	GM12878-XiMat	blood
26	chr16:47525200-47533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:47525400-47526400	Enhancers	Primary B cells from peripheral blood	blood
28	chr16:47525400-47526400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr16:47525400-47526800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:47525400-47526800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr16:47525400-47532600	Weak transcription	Fetal Heart	heart
32	chr16:47525600-47526200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr16:47525600-47526200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr16:47525600-47526400	Enhancers	HepG2	liver
35	chr16:47525600-47526600	Enhancers	K562	blood
36	chr16:47525600-47527200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:47525800-47526400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr16:47525800-47526400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr16:47525800-47527200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr16:47525800-47527200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr16:47525800-47527400	Enhancers	Dnd41	blood
42	chr16:47525800-47527600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr16:47525800-47528400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr16:47525800-47536800	Weak transcription	A549	lung
45	chr16:47525800-47538600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:47525800-47563000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr16:47526000-47526200	Enhancers	Stomach Smooth Muscle	stomach
48	chr16:47526000-47526400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr16:47526000-47526400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr16:47526000-47526400	Enhancers	Brain Hippocampus Middle	brain

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