Variant report

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103686012..103689687-chr8:103690179..103693773,3	K562	blood:
2	chr8:103690114..103692545-chr8:103692665..103694981,3	MCF-7	breast:
3	chr8:103692915..103695236-chr8:103851194..103853457,2	MCF-7	breast:
4	chr8:103690164..103700776-chr8:103817633..103824078,16	MCF-7	breast:
5	chr8:103693070..103695216-chr8:103822636..103825245,2	K562	blood:
6	chr8:103690697..103697091-chr8:103702860..103706318,8	MCF-7	breast:
7	chr8:103692803..103694427-chr8:103820243..103822323,2	MCF-7	breast:
8	chr8:103687457..103689575-chr8:103691339..103694082,2	MCF-7	breast:
9	chr8:103693701..103696201-chr8:103709941..103712706,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12548858	1.00[AFR][1000 genomes]
rs12549399	1.00[AFR][1000 genomes]
rs12675239	0.83[AFR][1000 genomes]
rs12680908	1.00[AFR][1000 genomes]
rs16869664	0.83[AFR][1000 genomes]
rs16869724	1.00[ASW][hapmap];0.85[TSI][hapmap];1.00[AFR][1000 genomes]
rs2388192	0.83[AFR][1000 genomes]
rs2511701	1.00[ASW][hapmap];0.85[TSI][hapmap];1.00[AFR][1000 genomes]
rs55635906	0.81[EUR][1000 genomes]
rs55719258	0.81[EUR][1000 genomes]
rs56398883	0.83[AFR][1000 genomes]
rs56929055	0.83[AFR][1000 genomes]
rs58473330	0.80[EUR][1000 genomes]
rs59808494	0.81[EUR][1000 genomes]
rs60320584	0.83[AFR][1000 genomes]
rs72685103	0.83[AFR][1000 genomes]
rs72685104	0.83[AFR][1000 genomes]
rs72685109	0.83[AFR][1000 genomes]
rs9642980	1.00[TSI][hapmap];0.81[EUR][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1026755	chr8:103676970-103728556	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018625	chr8:103676970-103729197	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2513924	ODF1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103675400-103698200	Weak transcription	Osteobl	bone
2	chr8:103679800-103706400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103688800-103695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:103688800-103697800	Weak transcription	Lung	lung
5	chr8:103690200-103695800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:103690200-103704800	Weak transcription	A549	lung
7	chr8:103690400-103694400	Enhancers	Placenta	Placenta
8	chr8:103692000-103695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:103692000-103695800	Weak transcription	Esophagus	oesophagus
10	chr8:103692200-103697600	Weak transcription	Fetal Intestine Small	intestine
11	chr8:103692600-103695000	Enhancers	Fetal Muscle Leg	muscle
12	chr8:103692800-103693800	Enhancers	Right Atrium	heart
13	chr8:103692800-103693800	Enhancers	Spleen	Spleen
14	chr8:103692800-103694000	Enhancers	HSMMtube	muscle
15	chr8:103693000-103695000	Weak transcription	Fetal Thymus	thymus
16	chr8:103693200-103695400	Weak transcription	HMEC	breast
17	chr8:103693200-103696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:103693200-103697000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:103693600-103694200	Enhancers	Left Ventricle	heart
20	chr8:103693600-103694600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:103693600-103695000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:103693600-103697200	Weak transcription	Liver	Liver

Quick Search: