Variant report

Variant	rs514588
Chromosome Location	chr8:102519864-102519865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
2	chr8:102518050..102520843-chr8:102644684..102646400,2	MCF-7	breast:
3	chr8:102517484..102520449-chr8:102641469..102644392,2	MCF-7	breast:
4	chr8:102513151..102515721-chr8:102516921..102520481,3	K562	blood:

Variant related genes	Relation type
ENSG00000271560	Chromatin interaction
ENSG00000253644	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000254063	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10435531	1.00[YRI][hapmap]
rs2847730	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs475304	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs509390	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs515622	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs523244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs534285	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs537658	0.88[ASN][1000 genomes]
rs541154	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs541226	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs546630	0.82[AMR][1000 genomes]
rs560043	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561626	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs567389	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs568894	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs589919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs624013	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs680890	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs687399	0.82[AMR][1000 genomes]
rs687909	0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102507400-102526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102514800-102526600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:102515000-102520800	Weak transcription	Fetal Lung	lung
4	chr8:102517200-102520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:102517200-102525800	Weak transcription	Pancreas	Pancrea
6	chr8:102517200-102526200	Weak transcription	Gastric	stomach
7	chr8:102517200-102526200	Weak transcription	Stomach Mucosa	stomach
8	chr8:102517200-102526400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:102517200-102526600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:102517400-102520400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:102517400-102520400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:102517400-102520600	Weak transcription	HMEC	breast
13	chr8:102517400-102520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:102517400-102520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:102517400-102526000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:102517400-102526200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:102517400-102526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:102517400-102526600	Weak transcription	Fetal Intestine Large	intestine
19	chr8:102518000-102520400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:102518200-102520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:102518200-102520400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:102518200-102520600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:102518200-102520600	Weak transcription	NHEK	skin
24	chr8:102518200-102526000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:102518400-102520000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:102518400-102520200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:102518800-102526000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:102519200-102526200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:102519200-102526600	Weak transcription	A549	lung

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