Variant report

Variant	rs970179
Chromosome Location	chr11:45433845-45433846
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10838461	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10838462	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11038440	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11602544	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1545466	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1545467	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2863705	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4755322	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4755323	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4755980	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4755984	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[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	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	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
6	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
7	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
8	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:42 , 50 per page) page: 1

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	chr11:45431000-45434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:45431000-45434600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:45431200-45434400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:45431400-45434200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:45431600-45434000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:45431600-45434800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:45431600-45434800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:45431800-45434000	Enhancers	Fetal Brain Male	brain
12	chr11:45431800-45434600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:45431800-45434600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr11:45432000-45434000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:45432000-45434000	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr11:45432000-45434000	Enhancers	HSMM	muscle
17	chr11:45432000-45434400	Bivalent Enhancer	Fetal Thymus	thymus
18	chr11:45432200-45434400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:45432400-45434000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:45432600-45434000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:45432600-45434000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr11:45432800-45434200	Enhancers	Brain Germinal Matrix	brain
23	chr11:45432800-45434400	Enhancers	Fetal Brain Female	brain
24	chr11:45433000-45434000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:45433000-45434400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:45433200-45434000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:45433200-45434600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:45433200-45434800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr11:45433200-45435600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:45433400-45434000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:45433400-45434600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr11:45433400-45434800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:45433600-45435600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr11:45433800-45434000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:45433800-45434000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:45433800-45434000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:45433800-45434000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr11:45433800-45434000	Enhancers	Osteobl	bone
39	chr11:45433800-45434200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr11:45433800-45434200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:45433800-45434400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr11:45433800-45434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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