Variant report

Variant	rs56130750
Chromosome Location	chr11:119762963-119762964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119755019..119757410-chr11:119762615..119764941,2	K562	blood:
2	chr11:119761258..119764589-chr11:119765739..119768852,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs507622	0.88[EUR][1000 genomes]
rs548636	0.88[EUR][1000 genomes]
rs61899012	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61899015	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs651232	0.88[EUR][1000 genomes]
rs78015	0.88[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	nsv1051526	chr11:119750335-119775811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1038232	chr11:119759344-119785065	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119747200-119768200	Weak transcription	Fetal Intestine Small	intestine
2	chr11:119758800-119764000	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119759400-119763800	Enhancers	Brain Anterior Caudate	brain
4	chr11:119760000-119764200	Enhancers	Brain Substantia Nigra	brain
5	chr11:119760200-119763000	Enhancers	Brain Angular Gyrus	brain
6	chr11:119760200-119764600	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:119760400-119763800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:119760400-119764200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr11:119760800-119764600	Enhancers	Fetal Heart	heart
10	chr11:119761200-119763000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:119761400-119763200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr11:119761600-119763400	Enhancers	Brain Germinal Matrix	brain
13	chr11:119761600-119763400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr11:119761600-119764000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:119761800-119763200	Enhancers	Fetal Brain Female	brain
16	chr11:119761800-119763600	Enhancers	Fetal Brain Male	brain
17	chr11:119762000-119763600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:119762400-119763000	Enhancers	Left Ventricle	heart
19	chr11:119762400-119763200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:119762600-119763000	Enhancers	Right Atrium	heart
21	chr11:119762600-119763000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
22	chr11:119762600-119765600	Weak transcription	Esophagus	oesophagus
23	chr11:119762800-119763200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:119762800-119763200	Enhancers	Right Ventricle	heart

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