Variant report

Variant	rs17100941
Chromosome Location	chr1:78186322-78186323
allele	G/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	POLR2A	chr1:78186241-78186441	K562	blood:	n/a	n/a
2	MAFK	chr1:78186104-78186454	HepG2	liver:	n/a	chr1:78186124-78186135 chr1:78186123-78186137 chr1:78186124-78186135

Variant related genes	Relation type
USP33	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1135921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1353727	1.00[AMR][1000 genomes]
rs17100655	1.00[AMR][1000 genomes]
rs17100694	1.00[AMR][1000 genomes]
rs17100731	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs17100774	1.00[MEX][hapmap]
rs17100781	0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100789	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17100791	1.00[MEX][hapmap]
rs17100850	1.00[MEX][hapmap]
rs17101048	1.00[AMR][1000 genomes]
rs17101052	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs17101109	1.00[AMR][1000 genomes]
rs2047167	1.00[AMR][1000 genomes]
rs2088519	1.00[AMR][1000 genomes]
rs2228247	1.00[AMR][1000 genomes]
rs2256679	1.00[AMR][1000 genomes]
rs2270539	1.00[MEX][hapmap]
rs2291689	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2647491	1.00[ASW][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap]
rs2647495	1.00[AMR][1000 genomes]
rs2647513	1.00[AMR][1000 genomes]
rs2803139	1.00[AMR][1000 genomes]
rs2803154	1.00[AMR][1000 genomes]
rs2803166	1.00[AMR][1000 genomes]
rs2803167	1.00[AMR][1000 genomes]
rs2803169	1.00[AMR][1000 genomes]
rs2803170	1.00[AMR][1000 genomes]
rs3104462	1.00[AMR][1000 genomes]
rs3104463	1.00[AMR][1000 genomes]
rs3112830	1.00[AMR][1000 genomes]
rs34128192	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv508326	chr1:78184379-78234247	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78161000-78187400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:78171400-78206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:78171600-78199000	Strong transcription	Adipose Nuclei	Adipose
4	chr1:78171600-78207400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:78171800-78197600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr1:78171800-78198000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:78171800-78200200	Strong transcription	Fetal Lung	lung
8	chr1:78171800-78205600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:78171800-78206800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:78171800-78206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:78171800-78206800	Strong transcription	Placenta	Placenta
12	chr1:78171800-78207000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:78171800-78207200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:78172000-78197800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:78172000-78198800	Strong transcription	Primary T cells from cord blood	blood
16	chr1:78172000-78206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:78172200-78188200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:78172200-78195800	Strong transcription	Fetal Thymus	thymus
19	chr1:78172200-78196200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:78172200-78197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:78172200-78197800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:78172200-78206600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:78172400-78197800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:78172400-78200000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:78172400-78207600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:78172600-78186400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:78172600-78195600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:78172600-78198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:78172600-78205000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:78173200-78186800	Weak transcription	A549	lung
31	chr1:78173200-78198400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:78173800-78224400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:78174000-78194000	Weak transcription	Fetal Heart	heart
34	chr1:78174200-78207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:78176400-78205200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr1:78176600-78187600	Weak transcription	NHEK	skin
37	chr1:78176800-78205800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:78178600-78187400	Weak transcription	Aorta	Aorta
39	chr1:78178600-78187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:78178600-78196200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:78179000-78187400	Weak transcription	Brain Germinal Matrix	brain
42	chr1:78179600-78194600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:78179600-78194600	Weak transcription	Gastric	stomach
44	chr1:78180600-78195600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:78180600-78199800	Strong transcription	Fetal Intestine Large	intestine
46	chr1:78181200-78196200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:78181200-78197800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:78181400-78193000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:78181600-78188200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:78182200-78187200	Weak transcription	Stomach Mucosa	stomach

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