Variant report

Variant	rs11988049
Chromosome Location	chr8:9987535-9987536
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	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:
2	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10092905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10097035	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10101206	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11985767	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11988116	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11998467	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1385255	1.00[ASN][1000 genomes]
rs17689007	1.00[JPT][hapmap]
rs17689037	1.00[JPT][hapmap]
rs17689289	1.00[JPT][hapmap]
rs28514398	0.87[ASN][1000 genomes]
rs28608061	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631074	1.00[ASN][1000 genomes]
rs28695225	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716276	0.85[AFR][1000 genomes]
rs3885723	1.00[JPT][hapmap]
rs57068621	1.00[EUR][1000 genomes]
rs57611211	1.00[ASN][1000 genomes]
rs59732058	0.87[ASN][1000 genomes]
rs59899904	0.87[ASN][1000 genomes]
rs59910149	1.00[ASN][1000 genomes]
rs60066541	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs61591817	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73528908	1.00[ASN][1000 genomes]
rs73528929	1.00[ASN][1000 genomes]
rs73528930	1.00[ASN][1000 genomes]
rs73528933	1.00[ASN][1000 genomes]
rs73528936	1.00[ASN][1000 genomes]
rs73528940	1.00[ASN][1000 genomes]
rs73528945	1.00[ASN][1000 genomes]
rs73528959	0.87[ASN][1000 genomes]
rs73528960	0.87[ASN][1000 genomes]
rs73528963	0.87[ASN][1000 genomes]
rs73528974	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73528997	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530926	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73530934	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73530948	0.87[ASN][1000 genomes]
rs7821075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814416	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693546	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9970600-9995800	Weak transcription	Pancreas	Pancrea
2	chr8:9977000-9988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:9978200-9988000	Weak transcription	Fetal Brain Female	brain
4	chr8:9980600-9988200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:9983800-9988200	Weak transcription	Aorta	Aorta
6	chr8:9984600-9990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:9986200-10002200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:9986800-9988200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:9986800-9990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:9987000-9988200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:9987200-9992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:9987200-9995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:9987400-9988800	Enhancers	Brain Germinal Matrix	brain

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