Variant report

Variant	rs16951068
Chromosome Location	chr17:50237496-50237497
allele	A/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	REST	chr17:50236881-50237832	H1-neurons	neurons:	n/a	chr17:50237615-50237625 chr17:50236997-50237010
2	POLR2A	chr17:50236841-50237903	H1-neurons	neurons:	n/a	n/a
3	REST	chr17:50237405-50238530	PFSK-1	brain:	n/a	chr17:50237615-50237625 chr17:50238309-50238327 chr17:50238308-50238328 chr17:50238319-50238328 chr17:50238308-50238328 chr17:50238312-50238325 chr17:50238308-50238322 chr17:50238308-50238328 chr17:50238314-50238323
4	CTBP2	chr17:50235074-50237787	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CA10	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4362437	1.00[EUR][1000 genomes]
rs73987494	1.00[EUR][1000 genomes]
rs73987496	1.00[EUR][1000 genomes]
rs73987498	1.00[EUR][1000 genomes]
rs73990808	1.00[EUR][1000 genomes]
rs8066895	1.00[EUR][1000 genomes]
rs8070000	1.00[EUR][1000 genomes]
rs8072151	0.85[ASW][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50233800-50237800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
2	chr17:50234200-50237800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:50234400-50238000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr17:50234600-50237800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr17:50234600-50238000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr17:50234600-50238000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr17:50234800-50237800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:50235000-50237800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr17:50235000-50237800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
10	chr17:50235400-50237600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr17:50235400-50237600	ZNF genes & repeats	Spleen	Spleen
12	chr17:50235400-50237800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr17:50235800-50237800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr17:50236600-50237800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:50236600-50238000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
16	chr17:50236800-50237800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr17:50236800-50237800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr17:50236800-50238000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:50237000-50237600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr17:50237200-50237600	Bivalent/Poised TSS	Fetal Brain Male	brain
21	chr17:50237200-50237800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
22	chr17:50237200-50237800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
23	chr17:50237200-50238200	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr17:50237200-50240600	Weak transcription	Pancreas	Pancrea
25	chr17:50237400-50237600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr17:50237400-50237800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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