Variant report

Variant	rs7189304
Chromosome Location	chr16:46957701-46957702
allele	C/G
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	POLR2A	chr16:46957397-46957785	HL-60	blood:	n/a	n/a
2	POLR2A	chr16:46957568-46957702	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:46957487-46958837	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:46951155-46967607	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:46957179-46958887	HepG2	liver:	n/a	n/a
6	FOSL2	chr16:46957530-46958923	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:46957405-46957711	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GPT2	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58779910	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	8 gene(s)	inside rSNPs	diseases
8	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
9	esv1831215	chr16:46907546-46962858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1799095	chr16:46916670-46972671	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1063660	chr16:46930623-46978792	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46919000-46963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46928400-46966000	Strong transcription	Fetal Brain Female	brain
3	chr16:46929400-46965200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:46930800-46965400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:46930800-46968400	Weak transcription	Right Atrium	heart
6	chr16:46931600-46957800	Strong transcription	Fetal Stomach	stomach
7	chr16:46931600-46965200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr16:46932200-46965200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:46933600-46959800	Weak transcription	HUVEC	blood vessel
10	chr16:46933600-46965400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:46933800-46965800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:46934000-46963400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:46935400-46958200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr16:46939600-46964800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:46940000-46964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:46943200-46965200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:46943200-46965400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr16:46943400-46965000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:46943400-46965000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:46943400-46965200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:46943400-46965400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:46943400-46965400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:46943400-46965400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:46943600-46959400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:46945800-46965200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:46945800-46965400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr16:46946200-46957800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:46948800-46958800	Strong transcription	NHEK	skin
29	chr16:46949200-46963400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:46949800-46964200	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr16:46950000-46965200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:46951800-46966800	Weak transcription	Fetal Brain Male	brain
33	chr16:46952000-46958800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:46952200-46963400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr16:46953600-46963000	Strong transcription	Brain Cingulate Gyrus	brain
36	chr16:46953600-46965000	Weak transcription	A549	lung
37	chr16:46954000-46963800	Weak transcription	K562	blood
38	chr16:46954400-46963400	Weak transcription	GM12878-XiMat	blood
39	chr16:46954400-46963600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr16:46954600-46959000	Strong transcription	Brain Substantia Nigra	brain
41	chr16:46954800-46962600	Weak transcription	Thymus	Thymus
42	chr16:46955000-46957800	Weak transcription	Fetal Lung	lung
43	chr16:46955000-46959400	Strong transcription	HepG2	liver
44	chr16:46955200-46958200	Strong transcription	Hela-S3	cervix
45	chr16:46955200-46960800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr16:46955400-46957800	Genic enhancers	Pancreas	Pancrea
47	chr16:46955400-46958200	Genic enhancers	Gastric	stomach
48	chr16:46955400-46958600	Strong transcription	HMEC	breast
49	chr16:46955400-46965200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr16:46955600-46962800	Strong transcription	Brain Hippocampus Middle	brain

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