Variant report

Variant	rs41278134
Chromosome Location	chr20:40703246-40703247
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:40695749..40698004-chr20:40702980..40704487,2	MCF-7	breast:
2	chr20:40701699..40704442-chr20:40710601..40712886,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1884035	0.88[EUR][1000 genomes]
rs2223912	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3084007	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41278136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41278142	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45500198	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58841508	0.96[EUR][1000 genomes]
rs6016670	0.89[EUR][1000 genomes]
rs6016681	0.96[EUR][1000 genomes]
rs6016682	0.96[EUR][1000 genomes]
rs6029963	0.91[EUR][1000 genomes]
rs6029964	0.87[EUR][1000 genomes]
rs6029965	0.87[EUR][1000 genomes]
rs6029966	0.96[EUR][1000 genomes]
rs6102641	0.87[EUR][1000 genomes]
rs6513765	0.96[EUR][1000 genomes]
rs73113854	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73113856	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73113859	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73113864	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73113865	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73113870	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73113872	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73114432	1.00[AFR][1000 genomes]
rs73115457	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73115458	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73115478	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73115479	0.89[EUR][1000 genomes]
rs73115480	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73117860	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73117872	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73117886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73118098	1.00[AFR][1000 genomes]
rs73119803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119807	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119811	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73119815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119845	1.00[AFR][1000 genomes]
rs73119847	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119850	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73120035	1.00[AFR][1000 genomes]
rs73122781	1.00[AFR][1000 genomes]
rs73122800	1.00[AFR][1000 genomes]
rs73124713	1.00[AFR][1000 genomes]
rs73124714	1.00[AFR][1000 genomes]
rs73124722	1.00[AFR][1000 genomes]
rs73124730	1.00[AFR][1000 genomes]
rs73129112	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129138	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129147	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129161	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129169	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129170	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129173	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73129176	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129180	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73129186	0.96[EUR][1000 genomes]
rs73129195	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73129199	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73131104	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73131109	1.00[AFR][1000 genomes]
rs73131116	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73131124	1.00[AFR][1000 genomes]
rs73131125	1.00[AFR][1000 genomes]
rs8124637	0.96[EUR][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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv995175	chr20:40699252-40707470	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40697000-40703400	Weak transcription	Fetal Lung	lung
2	chr20:40697200-40705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr20:40701800-40715200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:40702800-40703400	Enhancers	Colon Smooth Muscle	Colon
5	chr20:40702800-40706000	Enhancers	Fetal Stomach	stomach
6	chr20:40703000-40703800	Enhancers	Rectal Smooth Muscle	rectum
7	chr20:40703200-40704200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr20:40703200-40704200	Enhancers	Stomach Mucosa	stomach
9	chr20:40703200-40704400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr20:40703200-40704600	Enhancers	Gastric	stomach

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