Variant report

Variant	rs2047748
Chromosome Location	chr10:49453971-49453972
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	chr10:49451828..49454602-chr10:49458352..49460279,2	K562	blood:

Variant related genes	Relation type
ENSG00000170324	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10857549	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[ASN][1000 genomes]
rs10857550	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11101266	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11101269	1.00[CHB][hapmap]
rs11594677	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12256625	1.00[CHB][hapmap]
rs12257900	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17697300	0.81[GIH][hapmap]
rs17697438	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.84[ASN][1000 genomes]
rs17697510	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs17697560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17697885	0.83[GIH][hapmap]
rs17770069	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.84[ASN][1000 genomes]
rs1864345	1.00[CHB][hapmap]
rs2047747	0.84[ASN][1000 genomes]
rs2141515	0.83[GIH][hapmap]
rs280613	1.00[CHB][hapmap]
rs280614	1.00[CHB][hapmap]
rs280616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes]
rs2889612	1.00[CHB][hapmap]
rs4838578	0.81[GIH][hapmap]
rs4838581	1.00[CHB][hapmap]
rs4838582	1.00[CHB][hapmap]
rs55729168	0.89[EUR][1000 genomes]
rs55909384	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6537556	1.00[CHB][hapmap]
rs67282046	0.90[EUR][1000 genomes]
rs68069145	0.91[EUR][1000 genomes]
rs7067673	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7068878	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[ASN][1000 genomes]
rs72792229	0.84[ASN][1000 genomes]
rs72792233	0.84[ASN][1000 genomes]
rs72792239	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72792244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733955	1.00[CHB][hapmap]
rs745708	1.00[CHB][hapmap];0.85[GIH][hapmap]
rs905184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs9651393	1.00[CHB][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv895370	chr10:49421173-49484698	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49442000-49455200	Weak transcription	Right Atrium	heart
2	chr10:49449000-49454200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:49450800-49459400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:49451600-49459200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:49451800-49458200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:49451800-49459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:49452000-49459400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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