Variant report

Variant	rs810027
Chromosome Location	chr1:93852395-93852396
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	SETDB1	chr1:93851649-93852398	U2OS	brain:	n/a	n/a
2	KAP1	chr1:93852066-93852399	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000229635	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10782959	0.97[CHD][hapmap];0.83[GIH][hapmap]
rs1081522	0.87[ASN][1000 genomes]
rs10874766	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11164879	0.81[CHB][hapmap]
rs11164896	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11164905	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164908	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs11164939	0.81[CEU][hapmap]
rs12027142	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12030549	0.82[CHB][hapmap]
rs12030843	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs12033147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12036057	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12038046	0.80[EUR][1000 genomes]
rs12044557	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs12044883	0.89[CHB][hapmap]
rs12045001	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12046063	0.84[EUR][1000 genomes]
rs12133576	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs12406245	0.82[CHB][hapmap]
rs12563120	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs12563709	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1365297	0.85[ASN][1000 genomes]
rs1426317	1.00[YRI][hapmap]
rs1426318	0.82[CHB][hapmap]
rs1559828	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs17109958	0.90[CEU][hapmap]
rs2031225	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs2296558	0.81[CHB][hapmap]
rs237437	1.00[YRI][hapmap]
rs2391254	0.82[CHB][hapmap]
rs2449376	1.00[YRI][hapmap]
rs2484486	0.80[EUR][1000 genomes]
rs2765545	0.92[CHD][hapmap]
rs2783499	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs2783500	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs2783501	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs2783505	0.80[EUR][1000 genomes]
rs2818971	1.00[YRI][hapmap]
rs28782525	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2893242	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3087457	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35628716	0.83[ASN][1000 genomes]
rs35910103	0.82[ASN][1000 genomes]
rs35915989	0.82[ASN][1000 genomes]
rs3754186	0.82[CHB][hapmap]
rs3767964	0.82[CHB][hapmap]
rs3767966	0.90[CEU][hapmap]
rs3904665	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3904666	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4000699	0.82[CHB][hapmap]
rs4240966	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs4484937	0.95[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap]
rs4847240	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs4847408	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs4847425	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs531358	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs612037	0.82[CHB][hapmap]
rs61799470	0.80[EUR][1000 genomes]
rs61799497	0.80[EUR][1000 genomes]
rs61799517	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61799538	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs622608	0.81[CHB][hapmap]
rs6541349	0.90[CHB][hapmap];0.90[CHD][hapmap]
rs6541401	0.82[CHB][hapmap]
rs6541404	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs6703310	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs693737	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs698927	0.83[ASN][1000 genomes]
rs7513705	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7517363	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs7525248	0.85[CHB][hapmap]
rs7539307	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs771454	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771458	0.83[ASN][1000 genomes]
rs771461	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs771462	0.83[ASN][1000 genomes]
rs771465	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771470	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771476	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771478	0.87[ASN][1000 genomes]
rs771479	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs771481	0.90[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs771482	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs797668	0.82[CHB][hapmap]
rs797680	0.82[CHB][hapmap]
rs812214	0.85[ASN][1000 genomes]
rs942196	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs810027	CCDC18	cis	multi-tissue	Pritchard
rs810027	LRRC8D	cis	parietal	SCAN
rs810027	DR1	cis	parietal	SCAN
rs810027	GLMN	cis	cerebellum	SCAN
rs810027	CCDC18	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93840600-93852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:93850400-93852600	ZNF genes & repeats	Dnd41	blood
3	chr1:93852000-93852800	ZNF genes & repeats	Aorta	Aorta
4	chr1:93852000-93853200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:93852200-93852800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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