Variant report

Variant	rs3018449
Chromosome Location	chr8:103579609-103579610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103579195..103580817-chr8:103582355..103586645,3	K562	blood:
2	chr8:103567304..103569694-chr8:103578366..103580055,2	MCF-7	breast:
3	chr8:103579195..103580787-chr8:103581193..103583855,2	K562	blood:
4	chr8:103575313..103581780-chr8:103582663..103591933,12	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2033557	0.90[ASN][1000 genomes]
rs2436886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436887	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2436888	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436972	0.90[ASN][1000 genomes]
rs2511710	1.00[CHB][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511711	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511713	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511737	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511745	0.81[CEU][hapmap];1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs3018450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv534151	chr8:103563857-103589862	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103550800-103589000	Weak transcription	Right Atrium	heart
2	chr8:103557200-103582000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103569600-103581000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:103574600-103580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:103577200-103580000	Weak transcription	Spleen	Spleen
6	chr8:103578600-103580200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:103578600-103580800	Enhancers	Primary B cells from cord blood	blood
8	chr8:103578800-103580000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:103578800-103580000	Weak transcription	Hela-S3	cervix
10	chr8:103578800-103580000	Weak transcription	NH-A	brain
11	chr8:103578800-103580000	Weak transcription	NHDF-Ad	bronchial
12	chr8:103578800-103580000	Weak transcription	NHLF	lung
13	chr8:103578800-103580000	Weak transcription	Osteobl	bone
14	chr8:103578800-103580400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:103578800-103580800	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:103578800-103581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:103578800-103584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:103579000-103580000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:103579000-103580000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:103579000-103580000	Enhancers	GM12878-XiMat	blood
21	chr8:103579000-103580000	Weak transcription	HMEC	breast
22	chr8:103579000-103580000	Weak transcription	K562	blood
23	chr8:103579000-103580000	Weak transcription	NHEK	skin
24	chr8:103579000-103580200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:103579000-103580400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:103579000-103581400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:103579600-103581400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:103579600-103581800	Enhancers	Primary monocytes fromperipheralblood	blood

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