Variant report

Variant	rs73456058
Chromosome Location	chr11:45433093-45433094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45427988..45430237-chr11:45431939..45433599,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11821470	1.00[AFR][1000 genomes]
rs11823317	1.00[AFR][1000 genomes]
rs11824780	0.92[AFR][1000 genomes]
rs58246347	0.96[AFR][1000 genomes]
rs60269067	0.96[AFR][1000 genomes]
rs60592278	1.00[AFR][1000 genomes]
rs61635065	1.00[AFR][1000 genomes]
rs73456042	0.96[AFR][1000 genomes]
rs73456050	0.91[AFR][1000 genomes]
rs73456052	0.96[AFR][1000 genomes]
rs73456055	1.00[AFR][1000 genomes]
rs73456056	1.00[AFR][1000 genomes]
rs73456061	1.00[AFR][1000 genomes]
rs73456075	1.00[AFR][1000 genomes]
rs73456077	1.00[AFR][1000 genomes]
rs73456094	1.00[AFR][1000 genomes]
rs7934947	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv306	chr11:45414044-45444431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv996050	chr11:45426481-45436633	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv3454086	chr11:45427876-45433574	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv554187	chr11:45429381-45433578	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv511486	chr11:45429381-45438374	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv554192	chr11:45430297-45433578	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv1807375	chr11:45430401-45438374	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv1049520	chr11:45430802-45494235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv541026	chr11:45430802-45494235	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45405400-45434800	Weak transcription	Right Atrium	heart
2	chr11:45430600-45435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:45430800-45434800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr11:45431000-45433600	Enhancers	NH-A	brain
5	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:45431400-45434200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:45431600-45433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:45431600-45434000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:45431600-45434800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:45431600-45434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:45431800-45433200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:45431800-45433800	Enhancers	Brain Angular Gyrus	brain
15	chr11:45431800-45434000	Enhancers	Fetal Brain Male	brain
16	chr11:45431800-45434600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:45431800-45434600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:45432000-45433200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:45432000-45433800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:45432000-45434000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:45432000-45434000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr11:45432000-45434000	Enhancers	HSMM	muscle
23	chr11:45432000-45434400	Bivalent Enhancer	Fetal Thymus	thymus
24	chr11:45432200-45433200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:45432200-45433400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:45432200-45433400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:45432200-45434400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:45432400-45433200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:45432400-45433200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:45432400-45433800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:45432400-45434000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:45432600-45433800	Enhancers	Brain Anterior Caudate	brain
33	chr11:45432600-45434000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:45432600-45434000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr11:45432800-45433200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:45432800-45433200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr11:45432800-45433400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:45432800-45433400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:45432800-45434200	Enhancers	Brain Germinal Matrix	brain
40	chr11:45432800-45434400	Enhancers	Fetal Brain Female	brain
41	chr11:45433000-45433200	Bivalent Enhancer	Brain Hippocampus Middle	brain
42	chr11:45433000-45433200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr11:45433000-45433400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:45433000-45433400	Enhancers	NHDF-Ad	bronchial
45	chr11:45433000-45433400	Enhancers	Osteobl	bone
46	chr11:45433000-45433600	Enhancers	HSMMtube	muscle
47	chr11:45433000-45433800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:45433000-45433800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr11:45433000-45433800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:45433000-45434000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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