Variant report

Variant	rs1469274
Chromosome Location	chr11:108741957-108741958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108735096..108738037-chr11:108740814..108742369,2	K562	blood:
2	chr11:108568310..108568880-chr11:108741623..108742180,2	K562	blood:
3	chr11:108658928..108659997-chr11:108741741..108742558,3	MCF-7	breast:
4	chr11:108568251..108569546-chr11:108741508..108742629,6	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1466502	0.91[YRI][hapmap]
rs1531470	0.84[ASW][hapmap];0.95[GIH][hapmap];0.97[MKK][hapmap]
rs17108759	0.91[ASN][1000 genomes]
rs17703817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1820403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1947928	1.00[ASW][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap]
rs1947929	1.00[ASW][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap]
rs2061680	0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs2126570	0.96[YRI][hapmap];0.96[AFR][1000 genomes]
rs2553769	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2615734	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2726876	0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs2726880	0.95[GIH][hapmap];0.95[MKK][hapmap]
rs2726887	0.92[ASW][hapmap];0.95[GIH][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs2726905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726924	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.98[MKK][hapmap];0.82[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59287866	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7103209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7124142	0.95[GIH][hapmap]
rs7130825	0.95[GIH][hapmap]
rs71489923	0.91[ASN][1000 genomes]
rs72993315	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72993517	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993528	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993554	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931638	0.91[GIH][hapmap]
rs7944806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108721600-108742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:108726200-108768400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
4	chr11:108734600-108753200	Weak transcription	GM12878-XiMat	blood
5	chr11:108734800-108743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:108739000-108744000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:108739400-108742400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:108739400-108744400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:108739400-108745200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:108739600-108742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:108739800-108744000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:108740000-108742000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:108740400-108742400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:108740600-108742400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:108740600-108744800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:108740800-108742000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:108740800-108742600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:108740800-108743800	Enhancers	NHLF	lung
19	chr11:108740800-108744200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr11:108740800-108744400	Enhancers	NHEK	skin
21	chr11:108741000-108742000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr11:108741000-108742000	Enhancers	Fetal Kidney	kidney
23	chr11:108741000-108742000	Enhancers	HepG2	liver
24	chr11:108741000-108742000	Flanking Active TSS	HUVEC	blood vessel
25	chr11:108741000-108743800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:108741200-108742000	Flanking Active TSS	A549	lung
27	chr11:108741400-108742000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:108741400-108742600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:108741400-108742800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:108741400-108743600	Weak transcription	HSMMtube	muscle
31	chr11:108741600-108742000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:108741600-108742600	Enhancers	NHDF-Ad	bronchial
33	chr11:108741600-108742800	Weak transcription	Brain Angular Gyrus	brain
34	chr11:108741800-108742400	Enhancers	Ovary	ovary
35	chr11:108741800-108742600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:108741800-108743200	Enhancers	Osteobl	bone
37	chr11:108741800-108743400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:108741800-108743400	Enhancers	NH-A	brain
39	chr11:108741800-108743600	Weak transcription	HMEC	breast
40	chr11:108741800-108743600	Weak transcription	HSMM	muscle
41	chr11:108741800-108744400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:108741800-108750400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:108741800-108756600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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