Variant report

Variant	rs2952277
Chromosome Location	chr17:66480819-66480820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66480053..66482691-chr17:66486689..66489527,2	K562	blood:
2	chr17:66479995..66482067-chr17:66515949..66518411,2	MCF-7	breast:
3	chr17:66479636..66481379-chr17:66506790..66508928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12451558	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2361953	0.87[ASN][1000 genomes]
rs2909211	0.81[EUR][1000 genomes]
rs2909213	0.81[EUR][1000 genomes]
rs2909216	0.81[EUR][1000 genomes]
rs2952279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952280	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952283	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952284	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2952286	0.80[AMR][1000 genomes]
rs2952290	0.81[EUR][1000 genomes]
rs8069148	0.87[AMR][1000 genomes];0.88[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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66467800-66487000	Weak transcription	Right Atrium	heart
2	chr17:66477400-66483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:66478200-66484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:66478400-66487600	Weak transcription	Gastric	stomach
5	chr17:66479400-66482000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:66479600-66481400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:66479800-66481200	Enhancers	Liver	Liver
8	chr17:66480200-66482000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:66480200-66482400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:66480600-66481000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr17:66480600-66481000	Enhancers	Brain Anterior Caudate	brain
12	chr17:66480600-66481200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:66480600-66481400	Enhancers	Brain Cingulate Gyrus	brain
14	chr17:66480600-66481600	Enhancers	Brain Substantia Nigra	brain
15	chr17:66480800-66481000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr17:66480800-66481200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr17:66480800-66481400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr17:66480800-66481400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr17:66480800-66481400	Enhancers	Brain Germinal Matrix	brain
20	chr17:66480800-66481400	Enhancers	Brain Hippocampus Middle	brain
21	chr17:66480800-66482400	Enhancers	Ovary	ovary
22	chr17:66480800-66482400	Flanking Active TSS	HepG2	liver
23	chr17:66480800-66490600	Enhancers	Primary monocytes fromperipheralblood	blood

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