Variant report

Variant	rs17101783
Chromosome Location	chr1:78956549-78956550
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	GATA2	chr1:78956398-78957203	SH-SY5Y	brain:	n/a	n/a
2	CTCF	chr1:78956480-78956630	BJ	skin:	n/a	n/a
3	CTCF	chr1:78956540-78956690	NHDF-neo	bronchial:	n/a	n/a
4	YY1	chr1:78956547-78957126	H1-hESC	embryonic stem cell:	n/a	chr1:78956623-78956632
5	MAX	chr1:78956378-78956946	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:78956446-78956901	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:78956411-78957115	Gliobla	brain:	n/a	n/a
8	POLR2A	chr1:78956491-78957037	ProgFib	skin:	n/a	n/a
9	ZNF263	chr1:78956309-78957547	HEK293-T-REx	kidney:	n/a	n/a
10	CTCF	chr1:78956540-78956690	AoAF	blood vessel:	n/a	n/a
11	SIN3AK20	chr1:78956400-78956806	SK-N-SH	brain:	n/a	n/a
12	CHD1	chr1:78956542-78956767	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PTGFR	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1265657	1.00[AMR][1000 genomes]
rs1265663	1.00[AMR][1000 genomes]
rs1322930	1.00[AMR][1000 genomes]
rs1322932	1.00[AMR][1000 genomes]
rs1322936	1.00[AMR][1000 genomes]
rs1333979	1.00[AMR][1000 genomes]
rs1412846	1.00[AMR][1000 genomes]
rs17101751	1.00[AMR][1000 genomes]
rs494131	1.00[AMR][1000 genomes]
rs559854	1.00[AMR][1000 genomes]
rs564407	1.00[AMR][1000 genomes]
rs569846	1.00[AMR][1000 genomes]
rs581338	1.00[AMR][1000 genomes]
rs599583	1.00[AMR][1000 genomes]
rs601137	1.00[AMR][1000 genomes]
rs602865	1.00[AMR][1000 genomes]
rs640003	1.00[AMR][1000 genomes]
rs645528	1.00[AMR][1000 genomes]
rs663485	1.00[AMR][1000 genomes]
rs676130	1.00[AMR][1000 genomes]
rs689110	1.00[AMR][1000 genomes]
rs7516567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78950400-78956600	Weak transcription	Spleen	Spleen
2	chr1:78956000-78956600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:78956000-78957600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:78956000-78957600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:78956200-78956600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
6	chr1:78956200-78956600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:78956200-78956600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr1:78956200-78956600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:78956200-78956600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:78956200-78956600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:78956200-78956600	Enhancers	Liver	Liver
12	chr1:78956200-78956600	Active TSS	Brain Germinal Matrix	brain
13	chr1:78956200-78956600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
14	chr1:78956200-78956600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr1:78956200-78956600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr1:78956200-78956600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr1:78956200-78956600	Flanking Active TSS	NH-A	brain
18	chr1:78956200-78956600	Flanking Active TSS	Osteobl	bone
19	chr1:78956200-78956800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:78956200-78956800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:78956200-78956800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr1:78956200-78957400	Active TSS	Fetal Brain Female	brain
23	chr1:78956200-78957600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:78956200-78957600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:78956200-78957800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr1:78956200-78957800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:78956200-78957800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:78956200-78957800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:78956200-78957800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr1:78956200-78957800	Active TSS	HSMMtube	muscle
31	chr1:78956200-78957800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
32	chr1:78956200-78958000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:78956200-78958000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:78956200-78958000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
35	chr1:78956200-78958000	Active TSS	NHLF	lung
36	chr1:78956200-78958400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:78956200-78958400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr1:78956200-78958400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr1:78956200-78958800	Active TSS	Colon Smooth Muscle	Colon
40	chr1:78956200-78958800	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:78956200-78961400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr1:78956400-78956600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:78956400-78956600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:78956400-78956600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:78956400-78956600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:78956400-78956600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr1:78956400-78956600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
48	chr1:78956400-78956600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
49	chr1:78956400-78956600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
50	chr1:78956400-78956600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

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