Variant report

Variant	rs73478938
Chromosome Location	chr11:33062887-33062888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33050169..33051693-chr11:33062523..33065107,2	MCF-7	breast:
2	chr11:33057667..33060586-chr11:33062071..33064891,2	MCF-7	breast:
3	chr11:33035321..33039472-chr11:33059106..33064085,11	K562	blood:
4	chr11:32912801..32916780-chr11:33060030..33062962,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121690	Chromatin interaction
ENSG00000060749	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12799448	1.00[AMR][1000 genomes]
rs58721551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60351229	1.00[AMR][1000 genomes]
rs61185762	1.00[AMR][1000 genomes]
rs7113487	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127994	1.00[AMR][1000 genomes]
rs73476665	0.95[AFR][1000 genomes]
rs73478929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482837	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482844	1.00[AMR][1000 genomes]
rs73487358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489442	1.00[AMR][1000 genomes]
rs73489447	1.00[AMR][1000 genomes]
rs73489450	1.00[AMR][1000 genomes]
rs73489452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489453	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised 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	65 gene(s)	inside rSNPs	diseases
5	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
12	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
14	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
17	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	nsv1046243	chr11:33043155-33439216	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
19	nsv540992	chr11:33043155-33439216	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
20	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
21	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
23	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33060200-33063000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:33061600-33063000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:33061800-33063000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:33061800-33063000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:33061800-33063000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr11:33061800-33063000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:33061800-33063000	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr11:33061800-33063000	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr11:33061800-33063000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:33062000-33063000	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:33062000-33063000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:33062000-33063000	Flanking Active TSS	A549	lung
13	chr11:33062000-33063000	Flanking Active TSS	NHEK	skin
14	chr11:33062000-33063200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:33062000-33065400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:33062000-33065400	Weak transcription	Ovary	ovary
17	chr11:33062000-33066600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:33062000-33073000	Weak transcription	Stomach Mucosa	stomach
19	chr11:33062000-33081000	Weak transcription	Spleen	Spleen
20	chr11:33062000-33081400	Weak transcription	Gastric	stomach
21	chr11:33062000-33081800	Weak transcription	Esophagus	oesophagus
22	chr11:33062000-33093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:33062200-33063000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:33062200-33063000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:33062200-33063000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:33062200-33063000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:33062200-33063200	Enhancers	Fetal Thymus	thymus
28	chr11:33062200-33065400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:33062200-33065600	Weak transcription	Left Ventricle	heart
30	chr11:33062200-33065800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:33062200-33065800	Weak transcription	Pancreas	Pancrea
32	chr11:33062200-33067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:33062200-33067400	Weak transcription	Small Intestine	intestine
34	chr11:33062200-33074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:33062200-33079600	Weak transcription	Lung	lung
36	chr11:33062200-33079600	Weak transcription	Right Ventricle	heart
37	chr11:33062200-33085400	Weak transcription	Psoas Muscle	Psoas
38	chr11:33062400-33063000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:33062400-33063000	Enhancers	Fetal Kidney	kidney
40	chr11:33062400-33063000	Active TSS	Rectal Smooth Muscle	rectum
41	chr11:33062400-33063000	Enhancers	HUVEC	blood vessel
42	chr11:33062400-33064600	Weak transcription	Primary T cells from cord blood	blood
43	chr11:33062400-33065200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:33062400-33065400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:33062400-33065400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:33062400-33065400	Weak transcription	Colonic Mucosa	Colon
47	chr11:33062400-33065400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:33062600-33063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:33062600-33063000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:33062600-33063000	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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