Variant report

Variant	rs17149972
Chromosome Location	chr8:9260444-9260445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9239070..9241481-chr8:9260327..9263090,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17149950	0.89[EUR][1000 genomes]
rs17149952	0.89[EUR][1000 genomes]
rs17149956	0.89[EUR][1000 genomes]
rs57773689	0.89[EUR][1000 genomes]
rs61236019	0.89[EUR][1000 genomes]
rs6601300	0.89[EUR][1000 genomes]
rs6601301	0.89[EUR][1000 genomes]
rs7011130	0.89[EUR][1000 genomes]
rs73523055	0.89[EUR][1000 genomes]
rs73523079	0.89[EUR][1000 genomes]
rs7827573	0.89[EUR][1000 genomes]
rs7834497	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv2764086	chr8:9216584-9334601	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1026506	chr8:9258997-9338042	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9259800-9260600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:9259800-9260600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:9259800-9260600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:9259800-9260600	Active TSS	Brain Anterior Caudate	brain
5	chr8:9259800-9260600	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:9259800-9260600	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr8:9259800-9260600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:9260000-9260600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:9260000-9260600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr8:9260000-9260600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:9260000-9260600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr8:9260000-9260600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr8:9260000-9260600	Active TSS	Brain Substantia Nigra	brain
14	chr8:9260000-9260600	Active TSS	Fetal Brain Female	brain
15	chr8:9260200-9260600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:9260200-9260600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:9260400-9260600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:9260400-9260600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:9260400-9260600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr8:9260400-9260600	Enhancers	Fetal Brain Male	brain

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