Variant report

Variant	rs546128111
Chromosome Location	chr16:47599318-47599319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr16:47599271-47599791	HL-60	blood:	n/a	n/a
2	GABPA	chr16:47599307-47599811	HL-60	blood:	n/a	n/a
3	NFIC	chr16:47599292-47599811	GM12878	blood:	n/a	chr16:47599709-47599737
4	POLR2A	chr16:47599285-47599779	HUVEC	blood vessel:	n/a	n/a
5	SPI1	chr16:47599316-47599776	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47594118..47597140-chr16:47598345..47602068,5	K562	blood:

Variant related genes	Relation type
ENSG00000259866	TF binding region
ENSG00000259866	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv974811	chr16:47599013-47613849	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47548800-47605000	Weak transcription	Right Ventricle	heart
2	chr16:47581000-47615800	Weak transcription	Placenta	Placenta
3	chr16:47581000-47624200	Weak transcription	Brain Substantia Nigra	brain
4	chr16:47581200-47624600	Weak transcription	Colonic Mucosa	Colon
5	chr16:47581200-47627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:47581400-47641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:47581800-47621400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:47582000-47608200	Weak transcription	Fetal Thymus	thymus
9	chr16:47582000-47624200	Weak transcription	Fetal Kidney	kidney
10	chr16:47582200-47625000	Weak transcription	Fetal Heart	heart
11	chr16:47584600-47599400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:47584600-47600600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr16:47584600-47604200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:47584600-47607000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:47584600-47624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:47584600-47624400	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:47584800-47599600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:47584800-47601800	Weak transcription	Brain Hippocampus Middle	brain
19	chr16:47584800-47622600	Weak transcription	Brain Angular Gyrus	brain
20	chr16:47586200-47605800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:47586800-47600600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr16:47588000-47599600	Weak transcription	Brain Germinal Matrix	brain
23	chr16:47588000-47607400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:47588200-47599600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:47588200-47599800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:47588200-47599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:47588200-47606600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr16:47588200-47622600	Weak transcription	Fetal Lung	lung
29	chr16:47588400-47599800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr16:47588400-47605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:47588400-47608400	Weak transcription	Thymus	Thymus
32	chr16:47588400-47622600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr16:47588600-47599600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr16:47588600-47599600	Weak transcription	Ovary	ovary
35	chr16:47588600-47615200	Weak transcription	Liver	Liver
36	chr16:47588600-47615800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr16:47588600-47622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr16:47588600-47622600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr16:47588800-47605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:47588800-47606400	Weak transcription	Lung	lung
41	chr16:47588800-47607200	Weak transcription	Esophagus	oesophagus
42	chr16:47588800-47607200	Weak transcription	Pancreas	Pancrea
43	chr16:47588800-47624600	Weak transcription	Gastric	stomach
44	chr16:47589400-47601400	Weak transcription	Dnd41	blood
45	chr16:47589400-47622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:47591400-47599400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:47593400-47599600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:47594200-47600400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:47594600-47605400	Weak transcription	Fetal Muscle Leg	muscle
50	chr16:47596400-47599800	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links