Variant report

Variant	rs7311694
Chromosome Location	chr12:4864117-4864118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10047570	0.94[ASN][1000 genomes]
rs1009633	0.86[CHB][hapmap]
rs10160902	0.86[ASN][1000 genomes]
rs10431361	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431362	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774256	0.80[CHB][hapmap]
rs10774267	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849125	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs10849126	0.90[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs10849127	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10849128	0.84[ASN][1000 genomes]
rs10849129	0.94[ASN][1000 genomes]
rs10849130	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10849131	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10849133	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10849137	0.99[ASN][1000 genomes]
rs10849138	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10849143	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs11063314	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11063318	0.94[ASN][1000 genomes]
rs11063327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11063331	0.94[ASN][1000 genomes]
rs12296205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12320374	0.99[ASN][1000 genomes]
rs1468556	0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs17783373	0.86[ASN][1000 genomes]
rs2018895	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2109099	0.85[ASN][1000 genomes]
rs2109100	0.85[ASN][1000 genomes]
rs2159354	0.87[ASN][1000 genomes]
rs2159355	0.87[ASN][1000 genomes]
rs2191157	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2240762	0.86[CHB][hapmap]
rs2267552	0.85[CHB][hapmap]
rs2286578	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2286580	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.99[ASN][1000 genomes]
rs2286581	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286582	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2359466	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2359467	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs35049745	0.86[ASN][1000 genomes]
rs3782740	0.95[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs3782741	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3782742	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs3782743	0.83[EUR][1000 genomes]
rs4765779	0.86[ASN][1000 genomes]
rs4765780	0.83[ASN][1000 genomes]
rs4765781	0.85[ASN][1000 genomes]
rs4765782	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4765784	0.91[EUR][1000 genomes]
rs4766272	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs4766276	0.86[ASN][1000 genomes]
rs4766278	0.86[ASN][1000 genomes]
rs4766279	0.86[ASN][1000 genomes]
rs4766280	0.86[ASN][1000 genomes]
rs4766281	0.86[ASN][1000 genomes]
rs4766282	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs4766283	1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs4766286	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6489558	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs6489560	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs6489565	0.99[ASN][1000 genomes]
rs6489566	0.99[ASN][1000 genomes]
rs6489567	0.98[ASN][1000 genomes]
rs7132030	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.99[ASN][1000 genomes]
rs7137040	0.86[ASN][1000 genomes]
rs7137660	0.86[ASN][1000 genomes]
rs7295230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297290	0.87[ASN][1000 genomes]
rs7305387	0.99[ASN][1000 genomes]
rs7305525	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs7306235	0.86[ASN][1000 genomes]
rs7311475	0.86[ASN][1000 genomes]
rs7311675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312119	0.86[ASN][1000 genomes]
rs7314849	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316209	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.99[ASN][1000 genomes]
rs766504	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs766505	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7953170	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs7953399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953482	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966628	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7967117	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7970126	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972019	0.86[ASN][1000 genomes]
rs7972501	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs7973527	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7975978	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.99[ASN][1000 genomes]
rs7976011	0.99[ASN][1000 genomes]
rs7976219	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs929481	0.95[ASN][1000 genomes]
rs9300304	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4834000-4870200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:4836400-4872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:4845000-4872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4852400-4872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:4854200-4876000	Weak transcription	Fetal Brain Male	brain
6	chr12:4854600-4869600	Weak transcription	Brain Germinal Matrix	brain
7	chr12:4862600-4869600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:4863400-4870200	Weak transcription	Fetal Brain Female	brain

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