Variant report

Variant	rs11846215
Chromosome Location	chr14:78255520-78255521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1006038	0.90[CHB][hapmap]
rs1006039	0.90[CHB][hapmap]
rs1006040	0.90[CHB][hapmap]
rs1008988	0.95[CHB][hapmap]
rs10134425	0.84[ASN][1000 genomes]
rs10138747	0.92[ASN][1000 genomes]
rs10139492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10142722	0.90[CHB][hapmap]
rs10143294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10144448	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10146255	0.92[ASN][1000 genomes]
rs1048147	0.90[CHB][hapmap]
rs10483885	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs114763	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11628888	0.85[CHB][hapmap]
rs12879880	0.84[ASN][1000 genomes]
rs12885306	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[JPT][hapmap]
rs12887313	0.92[ASN][1000 genomes]
rs12890728	0.85[CHB][hapmap]
rs12890828	0.86[ASN][1000 genomes]
rs1477262	0.90[CHB][hapmap]
rs1477263	0.91[ASN][1000 genomes]
rs1477264	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17106157	0.90[CHB][hapmap]
rs176941	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs176943	0.90[CHB][hapmap]
rs176946	0.90[CHB][hapmap]
rs176948	0.83[ASN][1000 genomes]
rs176951	0.90[CHB][hapmap]
rs176954	0.83[ASN][1000 genomes]
rs176955	0.90[CHB][hapmap]
rs176956	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs176959	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs176961	0.84[ASN][1000 genomes]
rs176963	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs176964	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs176965	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs176968	0.84[ASN][1000 genomes]
rs176969	0.84[ASN][1000 genomes]
rs176970	0.84[ASN][1000 genomes]
rs176972	0.84[ASN][1000 genomes]
rs176975	0.84[ASN][1000 genomes]
rs176976	0.84[ASN][1000 genomes]
rs176977	0.81[ASN][1000 genomes]
rs176980	0.90[CHB][hapmap]
rs2080703	0.81[ASN][1000 genomes]
rs2267756	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2267759	0.90[CHB][hapmap]
rs2267760	0.90[CHB][hapmap]
rs2267761	0.90[CHB][hapmap]
rs2267762	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2267763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2267764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2277917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[ASN][1000 genomes]
rs2284233	0.80[ASN][1000 genomes]
rs2284234	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2284235	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2299930	0.90[CHB][hapmap]
rs3759728	0.90[CHB][hapmap]
rs3783980	0.90[CHB][hapmap]
rs3783981	0.81[ASN][1000 genomes]
rs3783982	0.81[ASN][1000 genomes]
rs4632066	0.90[CHB][hapmap]
rs4641655	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4899670	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs4899673	1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4899674	0.87[ASN][1000 genomes]
rs4903638	0.91[ASN][1000 genomes]
rs6574392	0.88[ASN][1000 genomes]
rs6574394	0.88[ASN][1000 genomes]
rs6574399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6574404	0.86[CHB][hapmap]
rs7142390	0.90[CHB][hapmap]
rs7143926	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7145717	0.91[ASN][1000 genomes]
rs7148078	0.95[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7148126	0.81[ASN][1000 genomes]
rs7150531	0.93[ASN][1000 genomes]
rs7151685	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7154571	0.82[ASN][1000 genomes]
rs7160355	0.87[ASN][1000 genomes]
rs717682	0.94[ASN][1000 genomes]
rs759713	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8003691	0.90[CHB][hapmap]
rs8010541	0.88[ASN][1000 genomes]
rs8011337	0.90[CHB][hapmap]
rs8015645	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8016447	0.90[CHB][hapmap]
rs8022516	0.87[ASN][1000 genomes]
rs9323649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9323650	0.90[CHB][hapmap]
rs9323651	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11846215	ADCK1	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78252800-78256800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:78253200-78256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:78253600-78260800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:78253600-78261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:78253800-78256600	Weak transcription	Hela-S3	cervix
6	chr14:78253800-78266200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:78254000-78256600	Weak transcription	Placenta	Placenta
8	chr14:78255000-78256000	Enhancers	Brain Germinal Matrix	brain
9	chr14:78255200-78257000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:78255200-78257000	Weak transcription	HepG2	liver
11	chr14:78255400-78256000	Enhancers	Cortex derived primary cultured neurospheres	brain

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