Variant report

Variant	rs11231646
Chromosome Location	chr11:63702635-63702636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63702093..63703602-chr11:63705720..63707224,2	MCF-7	breast:
2	chr11:63687862..63689839-chr11:63702053..63703674,2	MCF-7	breast:
3	chr11:63702010..63703638-chr11:63704056..63706537,2	K562	blood:

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10736731	0.80[CHB][hapmap]
rs10751004	0.81[EUR][1000 genomes]
rs10792422	0.84[CHB][hapmap]
rs10792424	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10897454	0.80[CHB][hapmap]
rs10897459	0.93[TSI][hapmap]
rs10897464	0.85[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10897465	0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs10897466	0.85[CEU][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs10897467	0.85[EUR][1000 genomes]
rs10897468	0.85[AMR][1000 genomes]
rs10897469	0.82[EUR][1000 genomes]
rs10897470	0.84[EUR][1000 genomes]
rs11231628	0.88[TSI][hapmap]
rs11231640	0.85[CEU][hapmap];0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs11231643	0.84[EUR][1000 genomes]
rs11231653	0.86[EUR][1000 genomes]
rs11231655	0.89[EUR][1000 genomes]
rs11231662	0.85[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs11231663	0.84[EUR][1000 genomes]
rs11231664	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs11231670	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs11231671	0.85[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs11600062	0.83[EUR][1000 genomes]
rs11601228	0.80[EUR][1000 genomes]
rs11602912	0.87[AFR][1000 genomes]
rs11605797	0.85[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap]
rs11607028	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12417157	0.84[EUR][1000 genomes]
rs12417507	0.90[EUR][1000 genomes]
rs12418000	0.89[EUR][1000 genomes]
rs12421757	0.90[EUR][1000 genomes]
rs12786124	0.81[GIH][hapmap];0.91[TSI][hapmap]
rs12793201	0.84[EUR][1000 genomes]
rs12794404	0.82[EUR][1000 genomes]
rs12797540	0.90[EUR][1000 genomes]
rs12798491	0.85[CEU][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs12800703	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs12808604	0.80[EUR][1000 genomes]
rs1386346	0.93[ASW][hapmap];0.85[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1684950	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1783964	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1872772	0.80[CHB][hapmap]
rs2129467	0.84[EUR][1000 genomes]
rs2318110	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2318126	0.88[TSI][hapmap]
rs2508584	0.85[AMR][1000 genomes]
rs2840079	0.85[CEU][hapmap];0.88[CHB][hapmap]
rs3019782	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs320121	0.81[EUR][1000 genomes]
rs320156	0.87[ASW][hapmap];0.85[CEU][hapmap];0.81[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34134698	0.83[EUR][1000 genomes]
rs3740636	0.93[ASW][hapmap];0.85[CEU][hapmap];0.88[JPT][hapmap];0.97[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3740637	0.81[CEU][hapmap];0.86[GIH][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs4426138	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs449047	0.86[TSI][hapmap]
rs454474	0.86[TSI][hapmap]
rs479975	0.83[EUR][1000 genomes]
rs481835	0.85[CEU][hapmap];0.82[GIH][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs483340	0.93[ASW][hapmap];0.85[CEU][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs487540	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs488082	0.85[CEU][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs492357	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4980499	0.85[CEU][hapmap];0.86[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs4980500	0.85[CEU][hapmap];0.86[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs4980501	0.81[EUR][1000 genomes]
rs4980509	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4980512	0.81[ASW][hapmap];0.85[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4980516	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4980517	0.83[EUR][1000 genomes]
rs4980528	0.80[CHB][hapmap]
rs4980529	0.80[CHB][hapmap]
rs4980530	0.93[TSI][hapmap]
rs4980533	0.86[CHB][hapmap]
rs499118	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs500493	0.93[ASW][hapmap];0.88[LWK][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes]
rs502858	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs504060	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs509701	0.81[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs528927	0.89[JPT][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes]
rs529915	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs539432	0.85[CEU][hapmap]
rs553724	0.88[CEU][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs562865	0.85[CEU][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs567386	0.93[ASW][hapmap];0.85[CEU][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];0.88[MKK][hapmap];0.83[TSI][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs578295	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6591825	0.86[CHB][hapmap]
rs6591830	0.85[AMR][1000 genomes]
rs709594	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7108375	0.80[CHB][hapmap]
rs7110843	0.80[CHB][hapmap]
rs7112348	0.88[EUR][1000 genomes]
rs7118913	0.80[CHB][hapmap]
rs728919	0.93[ASW][hapmap];0.85[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7926608	0.85[EUR][1000 genomes]
rs7936614	0.85[EUR][1000 genomes]
rs7938498	0.87[ASW][hapmap];0.85[CEU][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7942318	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7944519	0.80[CHB][hapmap]
rs7951529	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs928948	0.88[TSI][hapmap]
rs9943682	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
9	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11231646	HRASLS3	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63697000-63705600	Weak transcription	Right Atrium	heart
2	chr11:63698800-63705600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63698800-63705600	Weak transcription	Esophagus	oesophagus
4	chr11:63699000-63705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:63699600-63705400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:63699600-63705600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:63699800-63702800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:63699800-63705200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:63699800-63705600	Weak transcription	Fetal Lung	lung
10	chr11:63699800-63705600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:63700000-63705400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:63700600-63702800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:63701000-63703000	Enhancers	Placenta	Placenta
14	chr11:63701200-63703200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:63701200-63705200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:63701400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:63701400-63705600	Weak transcription	Left Ventricle	heart
18	chr11:63702200-63703200	Enhancers	HepG2	liver
19	chr11:63702200-63705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:63702200-63705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:63702200-63705600	Weak transcription	Adipose Nuclei	Adipose
22	chr11:63702400-63705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:63702400-63705600	Weak transcription	Osteobl	bone
24	chr11:63702600-63705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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