Variant report

Variant	rs2553789
Chromosome Location	chr11:35057164-35057165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35054364..35057868-chr11:35058147..35061755,3	K562	blood:
2	chr11:35054850..35057258-chr11:35063545..35065206,3	MCF-7	breast:
3	chr11:35052336..35054064-chr11:35054789..35057693,2	K562	blood:
4	chr11:35056767..35059035-chr11:35065294..35067500,2	K562	blood:
5	chr11:34947703..34949304-chr11:35057040..35059668,2	K562	blood:
6	chr11:35056143..35059924-chr11:35060338..35062648,3	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1035731	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1425804	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1477562	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477563	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1559756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433161	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433162	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2467603	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469910	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2553787	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2553788	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2553790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553791	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553792	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553793	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553794	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553797	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553800	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553801	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553802	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2553803	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553805	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553806	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2732520	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2732521	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2732522	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2732524	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2732526	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2732527	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2732528	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2732529	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2785153	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2785154	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2785155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2785156	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2785157	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2785159	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2785160	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785161	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2785162	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2785163	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785166	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2785167	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2785168	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2785169	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471450	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs496623	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs497476	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs532282	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536864	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs603820	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs622235	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs663993	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs666197	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs678137	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7479679	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35039800-35059200	Weak transcription	Pancreas	Pancrea
2	chr11:35052400-35061800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:35052800-35061800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:35052800-35066800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:35053000-35057800	Weak transcription	Psoas Muscle	Psoas
6	chr11:35053000-35060600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:35053000-35062000	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:35053200-35061800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:35053800-35060200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:35054000-35057200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:35054000-35057200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:35054000-35060000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:35054000-35061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:35054600-35057200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:35054600-35058600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:35055000-35057200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:35055000-35057400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:35055000-35058600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:35055400-35057200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:35055400-35060200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:35055400-35060400	Weak transcription	Primary T cells from cord blood	blood
22	chr11:35055400-35060400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:35055400-35060800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:35055400-35061000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:35055800-35060200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:35056400-35058600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:35056400-35062000	Enhancers	HMEC	breast
28	chr11:35056600-35057200	Enhancers	GM12878-XiMat	blood
29	chr11:35056600-35058000	Enhancers	Hela-S3	cervix
30	chr11:35056600-35058400	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:35056600-35058600	Enhancers	HUVEC	blood vessel
32	chr11:35056600-35058800	Enhancers	HSMM	muscle
33	chr11:35056800-35057200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:35056800-35057600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:35056800-35057800	Enhancers	NH-A	brain
36	chr11:35056800-35058200	Enhancers	Primary B cells from cord blood	blood
37	chr11:35056800-35058200	Enhancers	NHLF	lung
38	chr11:35056800-35058400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:35056800-35058600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:35056800-35058600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:35056800-35058800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:35056800-35058800	Enhancers	NHDF-Ad	bronchial
43	chr11:35056800-35058800	Enhancers	Osteobl	bone
44	chr11:35056800-35059000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:35056800-35060000	Enhancers	NHEK	skin
46	chr11:35056800-35060800	Enhancers	Placenta	Placenta
47	chr11:35056800-35061800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:35056800-35062000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:35056800-35062000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:35057000-35057400	Enhancers	Aorta	Aorta

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