Variant report

Variant	rs7966628
Chromosome Location	chr12:4825138-4825139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4815512..4817728-chr12:4824833..4826836,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10047570	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10082907	0.84[ASN][1000 genomes]
rs10083146	0.85[ASN][1000 genomes]
rs10083152	0.82[ASN][1000 genomes]
rs1009633	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10160902	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1024655	0.87[ASN][1000 genomes]
rs10431361	0.88[ASN][1000 genomes]
rs10431362	0.86[ASN][1000 genomes]
rs10774256	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs10774259	0.84[ASN][1000 genomes]
rs10774260	0.84[ASN][1000 genomes]
rs10774267	0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs10849125	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849126	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849127	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849128	0.85[ASN][1000 genomes]
rs10849129	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849130	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849131	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849133	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10849137	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849138	0.96[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs10849139	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10849143	0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11063314	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11063318	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11063323	0.82[EUR][1000 genomes]
rs11063327	0.91[ASN][1000 genomes]
rs11063328	0.90[ASN][1000 genomes]
rs11063331	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12296205	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12312983	0.87[EUR][1000 genomes]
rs12320374	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1468556	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17783373	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1990310	0.85[ASN][1000 genomes]
rs2109099	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2109100	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2159354	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2159355	0.95[ASN][1000 genomes]
rs2191157	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2240762	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2267552	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2286578	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286580	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286581	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2286582	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2359466	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359467	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35049745	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3782740	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782741	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782742	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4147696	0.85[ASN][1000 genomes]
rs4765779	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4765780	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4765781	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4765782	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4766272	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4766276	0.94[ASN][1000 genomes]
rs4766278	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4766279	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4766280	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4766281	0.94[ASN][1000 genomes]
rs4766282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4766283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4766286	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489558	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6489560	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6489565	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6489566	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6489567	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7132030	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7136382	0.81[ASN][1000 genomes]
rs7136583	0.87[ASN][1000 genomes]
rs7137040	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7137660	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7295230	0.91[ASN][1000 genomes]
rs7295251	0.91[ASN][1000 genomes]
rs7297290	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7305387	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305525	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7306235	0.94[ASN][1000 genomes]
rs7311475	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7311675	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs7311694	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7312119	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7314849	0.91[ASN][1000 genomes]
rs7315211	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7316209	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7953170	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953399	1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs7953482	0.91[ASN][1000 genomes]
rs7967117	0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs7970126	0.87[ASN][1000 genomes]
rs7972019	0.94[ASN][1000 genomes]
rs7972501	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7975978	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976011	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976219	0.82[ASN][1000 genomes]
rs929481	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9300304	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
4	chr12:4824200-4828400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:4824400-4825200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:4824400-4827000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:4825000-4825400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:4825000-4827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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