Variant report

Variant	rs9693239
Chromosome Location	chr8:103451141-103451142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103432099..103434551-chr8:103448773..103451141,2	MCF-7	breast:
2	chr8:103436437..103439478-chr8:103450415..103454144,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221387	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10505028	0.82[CHB][hapmap]
rs13248227	0.87[JPT][hapmap]
rs13269273	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs13270182	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs13281324	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs16869377	0.82[CHB][hapmap]
rs16869423	0.82[CHB][hapmap]
rs2293983	0.81[CHB][hapmap]
rs2607663	0.86[JPT][hapmap]
rs2853232	0.86[JPT][hapmap]
rs2853236	0.86[JPT][hapmap]
rs34300781	0.90[ASN][1000 genomes]
rs34620785	0.90[ASN][1000 genomes]
rs35065885	0.80[ASN][1000 genomes]
rs3736653	0.82[CHB][hapmap]
rs3923790	0.80[AFR][1000 genomes]
rs4269511	0.82[CHB][hapmap];0.89[CHD][hapmap]
rs4495397	0.87[JPT][hapmap]
rs4609174	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4621773	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734619	0.87[JPT][hapmap]
rs4734621	0.87[CEU][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55960246	0.84[AFR][1000 genomes]
rs62523127	0.83[ASN][1000 genomes]
rs62523142	0.81[ASN][1000 genomes]
rs71209870	0.83[ASN][1000 genomes]
rs7823262	0.84[ASN][1000 genomes]
rs7845636	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9642790	0.83[ASN][1000 genomes]
rs9694458	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9773443	0.82[YRI][hapmap]

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	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	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
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv972564	chr8:103448714-103461127	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3368938	chr8:103449847-103469656	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103448400-103453400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:103449600-103453000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:103449600-103453000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:103449800-103453200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:103450400-103451200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:103450600-103451200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:103450800-103451200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:103450800-103451200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:103450800-103451200	Enhancers	A549	lung
10	chr8:103450800-103452600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:103451000-103453200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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