Variant report

Variant	rs72950670
Chromosome Location	chr6:114380642-114380643
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	chr6:114370743..114373108-chr6:114379270..114381422,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-5	chr6:114379795-114380952	ENSG00000228624

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11153458	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12526401	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12526796	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12528851	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12530324	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12660968	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12665264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17075846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17075858	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17075861	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2050389	0.91[ASN][1000 genomes]
rs35512681	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56688186	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57710242	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57736157	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58522530	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58978364	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59266365	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59307219	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59821189	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60916860	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61464163	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715825	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72950637	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950638	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950646	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950647	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950655	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950660	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7743084	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114363800-114385000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:114370000-114387000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:114370200-114382000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:114370200-114389600	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:114371400-114388200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:114376000-114381000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:114376600-114382000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:114376800-114380800	Weak transcription	Fetal Stomach	stomach
9	chr6:114377200-114381600	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:114377200-114381600	Weak transcription	Brain Substantia Nigra	brain
11	chr6:114377200-114381800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:114379400-114381800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr6:114379400-114384800	Weak transcription	HSMMtube	muscle
14	chr6:114379600-114390400	Weak transcription	HepG2	liver
15	chr6:114380400-114381600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:114380400-114384600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:114380400-114384800	Weak transcription	HSMM	muscle
18	chr6:114380600-114380800	Enhancers	Brain Anterior Caudate	brain
19	chr6:114380600-114380800	Enhancers	Psoas Muscle	Psoas

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