Variant report

Variant	rs2412977
Chromosome Location	chr22:30569891-30569892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30568484..30570714-chr22:30648672..30650612,2	K562	blood:
2	chr22:30562125..30563712-chr22:30568524..30571379,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1122239	0.83[ASN][1000 genomes]
rs1160671	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12233358	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12484547	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13053765	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13054837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13055998	0.89[EUR][1000 genomes]
rs13056332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056990	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13057204	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13057580	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13057733	0.82[ASN][1000 genomes]
rs13057878	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476514	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2010916	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2012308	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2106430	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2106722	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2214047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412979	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34391152	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34420020	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34474867	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34545612	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067150	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35539897	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35710453	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36018230	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820829	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4823067	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4823071	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4823080	0.89[EUR][1000 genomes]
rs4823081	0.89[EUR][1000 genomes]
rs4823082	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5753002	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753007	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753013	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753014	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753015	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753019	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753020	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753022	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753027	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5753028	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753029	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753030	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753046	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763701	0.89[EUR][1000 genomes]
rs5763734	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5763742	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763746	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763748	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5763749	0.85[ASN][1000 genomes]
rs5763750	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5763758	0.91[ASN][1000 genomes]
rs5763759	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5763763	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763766	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763769	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763774	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763782	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763787	0.91[ASN][1000 genomes]
rs5763788	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763801	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5763805	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763810	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763825	0.97[ASN][1000 genomes]
rs5763852	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763854	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5763872	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6006393	0.84[ASN][1000 genomes]
rs718773	0.91[ASN][1000 genomes]
rs7286304	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7286681	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7288576	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs739616	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs757026	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs766011	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs975704	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	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	chr22:30566400-30571600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:30566400-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:30566400-30573600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:30566600-30570200	Weak transcription	Primary T cells from cord blood	blood
5	chr22:30566600-30571600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:30566600-30571600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:30566600-30571800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:30566600-30573400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr22:30566600-30573800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr22:30566800-30571600	Weak transcription	Fetal Thymus	thymus
11	chr22:30567000-30571600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr22:30567000-30571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr22:30568600-30573400	Weak transcription	Thymus	Thymus
14	chr22:30569200-30574400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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