Variant report

Variant	rs10956476
Chromosome Location	chr8:130423612-130423613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:130423446-130423761	GM12891	blood:	n/a	n/a
2	SPI1	chr8:130423442-130423799	GM12891	blood:	n/a	n/a
3	SPI1	chr8:130423443-130423785	GM12878	blood:	n/a	n/a
4	SPI1	chr8:130423551-130423720	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:130423470-130423899	K562	blood:	n/a	n/a
6	SPI1	chr8:130423315-130423990	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:130421984-130431837	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130419285..130421126-chr8:130422291..130424693,2	K562	blood:
2	chr8:130422480..130424858-chr8:130426519..130428589,2	K562	blood:

Variant related genes	Relation type
ENSG00000253926	TF binding region
ENSG00000253926	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10087235	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10087734	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10090670	0.95[ASN][1000 genomes]
rs10094748	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10104020	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108893	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109055	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10112452	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10956474	0.89[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11506138	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11990493	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11997641	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12164231	1.00[JPT][hapmap]
rs12234967	1.00[JPT][hapmap]
rs12335056	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs16904080	1.00[JPT][hapmap]
rs17262815	1.00[JPT][hapmap]
rs1897449	1.00[JPT][hapmap]
rs28463195	0.95[ASN][1000 genomes]
rs28599610	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28839778	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28840106	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72712576	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712593	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72714212	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72714222	0.91[ASN][1000 genomes]
rs72714223	0.91[ASN][1000 genomes]
rs72714224	0.91[ASN][1000 genomes]
rs919702	1.00[JPT][hapmap]
rs9297787	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9297788	0.88[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643250	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9656976	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv968553	chr8:130416069-130423976	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130410200-130434600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130416800-130426600	Strong transcription	K562	blood
3	chr8:130418800-130424000	Weak transcription	Dnd41	blood
4	chr8:130419800-130425800	Weak transcription	Fetal Thymus	thymus
5	chr8:130419800-130427000	Weak transcription	Thymus	Thymus
6	chr8:130420000-130424000	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:130423000-130423800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:130423200-130423800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:130423200-130424000	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:130423400-130424200	Enhancers	GM12878-XiMat	blood
11	chr8:130423400-130424400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:130423600-130423800	Flanking Active TSS	Fetal Lung	lung
13	chr8:130423600-130424000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr8:130423600-130424400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:130423600-130424400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:130423600-130424400	Enhancers	NH-A	brain
17	chr8:130423600-130424600	Enhancers	Fetal Muscle Leg	muscle
18	chr8:130423600-130425000	Enhancers	Fetal Heart	heart
19	chr8:130423600-130425000	Enhancers	Fetal Stomach	stomach

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