Variant report

Variant	rs312048
Chromosome Location	chr2:21475127-21475128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21472326..21475303-chr2:21475432..21477439,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs312047	0.94[EUR][1000 genomes]
rs57446887	0.88[EUR][1000 genomes]
rs7602629	0.94[EUR][1000 genomes]
rs9309177	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519215	chr2:21473751-21502727	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21462200-21480800	Weak transcription	Aorta	Aorta
2	chr2:21473200-21488800	Enhancers	Brain Hippocampus Middle	brain
3	chr2:21473600-21476200	Weak transcription	Brain Angular Gyrus	brain
4	chr2:21473600-21487400	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:21473800-21475200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:21473800-21478000	Enhancers	Brain Germinal Matrix	brain
7	chr2:21474000-21476000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:21474000-21477200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:21474200-21476000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:21474400-21475200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:21474400-21475200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:21474600-21475200	Enhancers	Adipose Nuclei	Adipose
13	chr2:21474600-21478000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:21474600-21478800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:21474800-21475800	Weak transcription	Brain Substantia Nigra	brain
16	chr2:21474800-21477800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:21475000-21476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:21475000-21476400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:21475000-21478800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:21475000-21479000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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