Variant report

Variant	rs4435030
Chromosome Location	chr11:74806005-74806006
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74805066..74808860-chr11:74814569..74816963,4	K562	blood:
2	chr11:74790844..74792497-chr11:74804407..74806198,2	MCF-7	breast:
3	chr11:74802408..74809371-chr11:74811514..74814356,7	K562	blood:

Variant related genes	Relation type
ENSG00000213333	Chromatin interaction
ENSG00000137491	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10899075	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap]
rs1944614	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1944615	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1944616	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2018251	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2156656	0.81[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap]
rs2465290	0.82[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.86[MKK][hapmap]
rs2712786	0.88[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2712788	0.94[CHB][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.88[MEX][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2712793	0.83[ASN][1000 genomes]
rs2712795	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2712797	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2712799	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2712800	0.92[CEU][hapmap];0.94[CHB][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.84[ASN][1000 genomes]
rs2712801	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2712809	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs2712811	0.91[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs2712816	0.82[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.86[MKK][hapmap]
rs2712818	0.85[JPT][hapmap]
rs2851069	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs2851071	0.91[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs2851072	0.91[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs2851075	0.82[ASW][hapmap];0.81[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap];0.86[MKK][hapmap]
rs2851076	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851077	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851078	0.94[CHB][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851079	0.88[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851080	0.94[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851081	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851082	0.87[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851084	0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851086	0.88[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2851093	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2851095	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851097	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2851103	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2851104	0.91[ASW][hapmap];0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[ASN][1000 genomes]
rs2851105	0.83[ASN][1000 genomes]
rs2851107	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851109	0.91[ASW][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.83[LWK][hapmap];0.86[MKK][hapmap];0.85[YRI][hapmap]
rs4335576	0.85[JPT][hapmap]
rs4944067	0.85[JPT][hapmap]
rs7117575	0.91[ASW][hapmap];0.94[LWK][hapmap];0.84[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7121374	0.85[JPT][hapmap]
rs870505	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs870506	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs875482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949071	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3478707	chr11:74782633-74842791	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv3478718	chr11:74782633-74842791	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4435030	XRRA1	cis	lymphoblastoid	seeQTL
rs4435030	RNF169	cis	cerebellum	SCAN
rs4435030	XRRA1	cis	cerebellum	SCAN
rs4435030	INPPL1	cis	parietal	SCAN
rs4435030	THRSP	cis	parietal	SCAN
rs4435030	XRRA1	cis	parietal	SCAN
rs4435030	FBXO42	trans	parietal	SCAN
rs4435030	FCHSD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74804800-74806200	Weak transcription	A549	lung
2	chr11:74805800-74806600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:74805800-74806600	Flanking Active TSS	K562	blood
4	chr11:74805800-74807400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:74805800-74807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:74806000-74806200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:74806000-74806200	Bivalent Enhancer	Fetal Intestine Large	intestine

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