Variant report

Variant	rs3018443
Chromosome Location	chr8:103692520-103692521
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103682306..103684189-chr8:103691260..103693656,2	MCF-7	breast:
2	chr8:103686012..103689687-chr8:103690179..103693773,3	K562	blood:
3	chr8:103690164..103700776-chr8:103817633..103824078,16	MCF-7	breast:
4	chr8:103690697..103697091-chr8:103702860..103706318,8	MCF-7	breast:
5	chr8:103690114..103692545-chr8:103692665..103694981,3	MCF-7	breast:
6	chr8:103691857..103693515-chr8:103697362..103699173,2	K562	blood:
7	chr8:103687457..103689575-chr8:103691339..103694082,2	MCF-7	breast:
8	chr8:103691078..103693672-chr8:103696647..103699139,2	MCF-7	breast:
9	chr8:103664622..103666232-chr8:103692078..103693686,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12546601	0.90[EUR][1000 genomes]
rs12547574	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12548858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674646	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12675196	0.90[EUR][1000 genomes]
rs12675239	0.90[EUR][1000 genomes]
rs12680362	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12680598	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12680908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682093	0.88[EUR][1000 genomes]
rs16869676	0.90[EUR][1000 genomes]
rs16869695	0.84[ASN][1000 genomes]
rs16869724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2436946	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2471847	0.81[ASN][1000 genomes]
rs2511701	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511730	0.81[ASN][1000 genomes]
rs2734824	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2916570	0.80[ASN][1000 genomes]
rs56929055	0.92[EUR][1000 genomes]
rs72685110	0.92[EUR][1000 genomes]
rs72685117	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72685118	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72685123	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72685128	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73276720	0.84[EUR][1000 genomes]
rs980112	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[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	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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103675400-103698200	Weak transcription	Osteobl	bone
2	chr8:103675600-103692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:103679800-103706400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:103688800-103695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:103688800-103697800	Weak transcription	Lung	lung
6	chr8:103690200-103695800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:103690200-103704800	Weak transcription	A549	lung
8	chr8:103690400-103694400	Enhancers	Placenta	Placenta
9	chr8:103690800-103693600	Enhancers	Liver	Liver
10	chr8:103691600-103692600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:103692000-103695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:103692000-103695800	Weak transcription	Esophagus	oesophagus
13	chr8:103692200-103697600	Weak transcription	Fetal Intestine Small	intestine

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