Variant report

Variant	rs1503419
Chromosome Location	chr11:121571014-121571015
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1107375	1.00[ASN][1000 genomes]
rs17125654	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125660	1.00[AMR][1000 genomes]
rs17125690	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2078363	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs524797	1.00[ASN][1000 genomes]
rs57764501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73601402	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73603325	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73603330	1.00[AMR][1000 genomes];1.00[ASN][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	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv898428	chr11:121568262-121671976	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121567600-121571600	Weak transcription	Right Atrium	heart
2	chr11:121567600-121572400	Enhancers	Brain Substantia Nigra	brain
3	chr11:121568000-121572800	Enhancers	Brain Cingulate Gyrus	brain
4	chr11:121568200-121573600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:121568200-121573600	Weak transcription	Fetal Stomach	stomach
6	chr11:121568200-121576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:121570000-121571200	Enhancers	Brain Germinal Matrix	brain
8	chr11:121570000-121571400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:121570000-121571600	Enhancers	Brain Angular Gyrus	brain
10	chr11:121570000-121572800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr11:121570200-121571400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:121570200-121571400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:121570200-121571400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr11:121570400-121571200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr11:121570400-121571200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:121570400-121571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:121570400-121571400	Enhancers	Fetal Brain Female	brain
18	chr11:121570400-121571800	Enhancers	Fetal Brain Male	brain
19	chr11:121570600-121571200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr11:121570600-121571400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:121570600-121571400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:121570600-121571400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:121570600-121571600	Enhancers	Fetal Kidney	kidney
24	chr11:121570800-121571200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:121570800-121571400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:121570800-121571400	Flanking Active TSS	Fetal Heart	heart
27	chr11:121570800-121571400	Enhancers	Fetal Muscle Leg	muscle
28	chr11:121571000-121571200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:121571000-121571400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:121571000-121572800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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