Variant report

Variant	rs1923318
Chromosome Location	chr6:4575125-4575126
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	chr6:4573120..4575924-chr6:4578723..4580637,2	K562	blood:
2	chr6:4562696..4564290-chr6:4574854..4576588,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11754975	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs119194	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11967928	0.91[ASN][1000 genomes]
rs13195583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138501	0.92[ASN][1000 genomes]
rs1923319	0.92[ASN][1000 genomes]
rs2223634	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2326528	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35651062	0.90[ASN][1000 genomes]
rs366253	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs368513	0.96[EUR][1000 genomes]
rs379512	0.96[EUR][1000 genomes]
rs393589	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs408709	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs415223	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs417353	0.96[EUR][1000 genomes]
rs425229	0.96[EUR][1000 genomes]
rs429527	0.89[EUR][1000 genomes]
rs434509	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs435655	0.95[EUR][1000 genomes]
rs437035	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs437061	0.96[EUR][1000 genomes]
rs438085	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs440354	0.94[EUR][1000 genomes]
rs441034	0.96[EUR][1000 genomes]
rs441797	0.92[EUR][1000 genomes]
rs451278	0.95[EUR][1000 genomes]
rs4960003	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59492037	0.92[ASN][1000 genomes]
rs651051	0.94[EUR][1000 genomes]
rs71555853	0.88[ASN][1000 genomes]
rs71555857	0.92[ASN][1000 genomes]
rs7738908	0.92[ASN][1000 genomes]
rs7757235	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7771456	0.83[ASN][1000 genomes]
rs84995	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs84997	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9504148	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9504149	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9504155	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4564000-4577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4568000-4575800	Weak transcription	Osteobl	bone
3	chr6:4568400-4581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:4572600-4581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:4574000-4578400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:4574600-4582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:4574800-4581800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:4575000-4577000	Weak transcription	Fetal Heart	heart
9	chr6:4575000-4577200	Weak transcription	Fetal Stomach	stomach

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