Variant report

Variant	rs17419795
Chromosome Location	chr8:20313223-20313224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1016646	1.00[AFR][1000 genomes]
rs10464996	1.00[AFR][1000 genomes]
rs10503682	1.00[AFR][1000 genomes]
rs12056831	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1383248	1.00[AFR][1000 genomes]
rs17092434	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17092492	0.83[EUR][1000 genomes]
rs17092733	1.00[AFR][1000 genomes]
rs17412582	1.00[AFR][1000 genomes]
rs17412734	1.00[AFR][1000 genomes]
rs17412740	1.00[AFR][1000 genomes]
rs17420434	1.00[AFR][1000 genomes]
rs17420455	1.00[AFR][1000 genomes]
rs17490805	1.00[AFR][1000 genomes]
rs17490847	1.00[AFR][1000 genomes]
rs17491153	1.00[AFR][1000 genomes]
rs17492344	1.00[AFR][1000 genomes]
rs1979430	1.00[AFR][1000 genomes]
rs1979431	1.00[AFR][1000 genomes]
rs1979432	1.00[AFR][1000 genomes]
rs2005365	1.00[AFR][1000 genomes]
rs2086886	1.00[AFR][1000 genomes]
rs2170171	0.83[EUR][1000 genomes]
rs2170172	0.83[EUR][1000 genomes]
rs35673104	1.00[AFR][1000 genomes]
rs4506236	0.81[EUR][1000 genomes]
rs4601325	1.00[AFR][1000 genomes]
rs4610764	1.00[AFR][1000 genomes]
rs4921708	1.00[AFR][1000 genomes]
rs4921713	1.00[AFR][1000 genomes]
rs4921718	0.85[EUR][1000 genomes]
rs4922161	1.00[AFR][1000 genomes]
rs4922175	1.00[AFR][1000 genomes]
rs4922177	1.00[AFR][1000 genomes]
rs4922178	1.00[AFR][1000 genomes]
rs4922179	1.00[AFR][1000 genomes]
rs4922180	1.00[AFR][1000 genomes]
rs4922181	1.00[AFR][1000 genomes]
rs4922182	1.00[AFR][1000 genomes]
rs4922183	1.00[AFR][1000 genomes]
rs4922187	1.00[AFR][1000 genomes]
rs4922189	1.00[AFR][1000 genomes]
rs4922195	0.85[EUR][1000 genomes]
rs4922196	0.83[EUR][1000 genomes]
rs4922200	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4922210	1.00[AFR][1000 genomes]
rs56157706	1.00[AFR][1000 genomes]
rs56171374	1.00[AFR][1000 genomes]
rs58247975	0.83[EUR][1000 genomes]
rs58430710	0.83[EUR][1000 genomes]
rs59876773	0.83[EUR][1000 genomes]
rs60888624	0.83[EUR][1000 genomes]
rs6586910	1.00[AFR][1000 genomes]
rs6989281	1.00[AFR][1000 genomes]
rs6994255	1.00[AFR][1000 genomes]
rs6999584	1.00[AFR][1000 genomes]
rs6999736	1.00[AFR][1000 genomes]
rs7003097	0.83[EUR][1000 genomes]
rs73609155	0.83[EUR][1000 genomes]
rs73609159	0.83[EUR][1000 genomes]
rs7465534	1.00[AFR][1000 genomes]
rs7830125	1.00[AFR][1000 genomes]
rs950511	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs999746	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20310800-20313800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:20311200-20313600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:20311200-20313600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr8:20311200-20313800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:20312000-20314800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:20312600-20313600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr8:20312600-20313600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:20312600-20313600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:20312800-20313600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:20312800-20313600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:20312800-20313600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr8:20312800-20316000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:20313000-20313400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr8:20313200-20313600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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