Variant report

Variant	rs11579149
Chromosome Location	chr1:56051337-56051338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11206632	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11577328	0.92[EUR][1000 genomes]
rs11583011	0.93[EUR][1000 genomes]
rs11585079	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12741461	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12745502	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12747893	0.92[EUR][1000 genomes]
rs12751953	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35120401	0.89[EUR][1000 genomes]
rs35662474	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57914877	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56042200-56052400	Weak transcription	Right Atrium	heart
3	chr1:56044400-56051400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:56047000-56051400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56049600-56051400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:56049600-56051400	Enhancers	Fetal Stomach	stomach
7	chr1:56049600-56051600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:56049600-56051600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:56049600-56052200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:56049600-56052400	Enhancers	Brain Germinal Matrix	brain
11	chr1:56049600-56053200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:56049800-56051400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:56049800-56051400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:56049800-56051400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:56049800-56051400	Enhancers	Psoas Muscle	Psoas
16	chr1:56050000-56051400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:56050000-56052600	Enhancers	Colon Smooth Muscle	Colon
18	chr1:56050200-56051400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:56050200-56051400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:56050200-56051400	Enhancers	NHLF	lung
21	chr1:56050400-56051400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:56050400-56051400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:56050400-56051400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:56050400-56051400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:56050400-56051600	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:56050600-56051400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:56050600-56051600	Enhancers	HMEC	breast
28	chr1:56050600-56052000	Weak transcription	Aorta	Aorta
29	chr1:56050600-56055400	Weak transcription	Ovary	ovary
30	chr1:56050800-56052400	Weak transcription	Left Ventricle	heart
31	chr1:56050800-56052400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
33	chr1:56051000-56051400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:56051000-56052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:56051000-56052200	Weak transcription	HSMMtube	muscle
36	chr1:56051000-56055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:56051000-56055200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:56051000-56055800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:56051200-56053800	Weak transcription	Fetal Lung	lung
40	chr1:56051200-56053800	Weak transcription	NHDF-Ad	bronchial
41	chr1:56051200-56054400	Weak transcription	Osteobl	bone
42	chr1:56051200-56055200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:56051200-56055200	Weak transcription	HSMM	muscle
44	chr1:56051200-56055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:56051200-56057200	Weak transcription	Fetal Heart	heart

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