Variant report

Variant	rs2511701
Chromosome Location	chr8:103692966-103692967
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr8:103690114..103692545-chr8:103692665..103694981,3	MCF-7	breast:
4	chr8:103692915..103695236-chr8:103851194..103853457,2	MCF-7	breast:
5	chr8:103690164..103700776-chr8:103817633..103824078,16	MCF-7	breast:
6	chr8:103690697..103697091-chr8:103702860..103706318,8	MCF-7	breast:
7	chr8:103691857..103693515-chr8:103697362..103699173,2	K562	blood:
8	chr8:103692803..103694427-chr8:103820243..103822323,2	MCF-7	breast:
9	chr8:103687457..103689575-chr8:103691339..103694082,2	MCF-7	breast:
10	chr8:103691078..103693672-chr8:103696647..103699139,2	MCF-7	breast:
11	chr8:103664622..103666232-chr8:103692078..103693686,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10955288	0.88[CEU][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs12546601	0.90[EUR][1000 genomes]
rs12547574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12547834	0.88[CEU][hapmap]
rs12548858	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12549399	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12674646	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12675196	0.90[EUR][1000 genomes]
rs12675239	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12680362	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12680598	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12680908	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12682093	0.88[EUR][1000 genomes]
rs1318752	0.81[JPT][hapmap];0.92[TSI][hapmap]
rs16869664	0.88[CEU][hapmap];0.83[AFR][1000 genomes]
rs16869676	0.83[GIH][hapmap];0.81[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs16869695	0.86[JPT][hapmap]
rs16869724	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2388192	0.83[AFR][1000 genomes]
rs2436946	0.80[AMR][1000 genomes]
rs2513924	1.00[ASW][hapmap];0.85[TSI][hapmap];1.00[AFR][1000 genomes]
rs2734824	0.83[EUR][1000 genomes]
rs3018443	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56398883	0.83[AFR][1000 genomes]
rs56929055	0.83[AFR][1000 genomes];0.92[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]
rs72685110	0.92[EUR][1000 genomes]
rs72685117	0.90[EUR][1000 genomes]
rs72685118	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685123	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685128	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276720	0.84[EUR][1000 genomes]
rs9642980	0.85[TSI][hapmap]
rs980112	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2511701	ODF1	cis	parietal	SCAN
rs2511701	SPAG1	cis	parietal	SCAN

Chromatin state (count:21 , 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	chr8:103690800-103693600	Enhancers	Liver	Liver
9	chr8:103692000-103695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:103692000-103695800	Weak transcription	Esophagus	oesophagus
11	chr8:103692200-103697600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:103692600-103695000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:103692800-103693000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:103692800-103693000	Enhancers	Fetal Thymus	thymus
15	chr8:103692800-103693000	Enhancers	Left Ventricle	heart
16	chr8:103692800-103693200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:103692800-103693200	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:103692800-103693200	Enhancers	HMEC	breast
19	chr8:103692800-103693800	Enhancers	Right Atrium	heart
20	chr8:103692800-103693800	Enhancers	Spleen	Spleen
21	chr8:103692800-103694000	Enhancers	HSMMtube	muscle

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