Variant report

Variant	rs2002922
Chromosome Location	chr6:4165365-4165366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4163126..4164859-chr6:4165092..4166876,2	K562	blood:
2	chr6:4159425..4161721-chr6:4164815..4167243,2	K562	blood:
3	chr6:4164447..4168248-chr6:4168446..4171415,3	K562	blood:
4	chr6:4134804..4137676-chr6:4165231..4166753,2	K562	blood:
5	chr6:4136214..4139096-chr6:4164790..4166515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254821	Chromatin interaction
ENSG00000234817	Chromatin interaction
ENSG00000198721	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1034032	1.00[ASN][1000 genomes]
rs1123555	0.98[EUR][1000 genomes]
rs11752585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192123	1.00[ASN][1000 genomes]
rs13197025	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13197516	1.00[ASN][1000 genomes]
rs1327990	1.00[ASN][1000 genomes]
rs1327992	1.00[ASN][1000 genomes]
rs1360811	0.98[EUR][1000 genomes]
rs1410296	1.00[ASN][1000 genomes]
rs1576142	1.00[ASN][1000 genomes]
rs17137823	0.98[EUR][1000 genomes]
rs1932186	0.98[EUR][1000 genomes]
rs2002920	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149097	1.00[ASN][1000 genomes]
rs2149098	1.00[ASN][1000 genomes]
rs2326472	0.98[EUR][1000 genomes]
rs34635954	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34697725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35281314	1.00[ASN][1000 genomes]
rs35729554	1.00[ASN][1000 genomes]
rs35801932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35928057	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940593	1.00[ASN][1000 genomes]
rs36069200	1.00[ASN][1000 genomes]
rs6597033	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6597034	0.98[EUR][1000 genomes]
rs6597035	0.97[EUR][1000 genomes]
rs6597038	0.98[EUR][1000 genomes]
rs6597053	1.00[ASN][1000 genomes]
rs6912138	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912707	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932643	0.98[EUR][1000 genomes]
rs6933147	0.98[EUR][1000 genomes]
rs6938649	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555844	1.00[ASN][1000 genomes]
rs7743925	0.98[EUR][1000 genomes]
rs7745239	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749039	1.00[CEU][hapmap]
rs7749050	1.00[CEU][hapmap]
rs7749536	1.00[CEU][hapmap]
rs7751774	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761775	0.98[EUR][1000 genomes]
rs7769863	1.00[ASN][1000 genomes]
rs7770426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932847	1.00[ASN][1000 genomes]
rs9378858	1.00[ASN][1000 genomes]
rs9405722	1.00[ASN][1000 genomes]
rs9502132	0.98[EUR][1000 genomes]
rs9502133	0.98[EUR][1000 genomes]
rs9502134	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9502136	0.98[EUR][1000 genomes]
rs9503947	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9503950	1.00[CEU][hapmap]
rs9503952	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9503954	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9503955	0.98[EUR][1000 genomes]
rs9503958	0.98[EUR][1000 genomes]
rs9503959	0.98[EUR][1000 genomes]
rs9503979	0.98[EUR][1000 genomes]
rs9503980	0.98[EUR][1000 genomes]
rs9503981	0.98[EUR][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	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
5	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr6:4162200-4165600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:4163200-4165600	Enhancers	Ovary	ovary
3	chr6:4163600-4165600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:4164400-4182200	Weak transcription	Left Ventricle	heart
5	chr6:4164800-4165400	Weak transcription	Spleen	Spleen
6	chr6:4165200-4165400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:4165200-4165600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:4165200-4165600	Enhancers	Cortex derived primary cultured neurospheres	brain

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