Variant report

Variant	rs17054810
Chromosome Location	chr13:37597907-37597908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37597821..37599504-chr13:37599987..37601558,2	K562	blood:
2	chr13:37584438..37587099-chr13:37596659..37598435,2	MCF-7	breast:
3	chr13:37595941..37598503-chr13:37601593..37603323,2	MCF-7	breast:
4	chr13:37571989..37576230-chr13:37592486..37599969,7	MCF-7	breast:
5	chr13:37570481..37573375-chr13:37596445..37598844,2	K562	blood:

Variant related genes	Relation type
ENSG00000120699	Chromatin interaction
ENSG00000120697	Chromatin interaction
ENSG00000102710	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1199964	1.00[EUR][1000 genomes]
rs1199967	1.00[EUR][1000 genomes]
rs1199970	1.00[EUR][1000 genomes]
rs1211337	1.00[EUR][1000 genomes]
rs17054769	1.00[EUR][1000 genomes]
rs17054795	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17054796	1.00[EUR][1000 genomes]
rs17054804	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17054831	1.00[EUR][1000 genomes]
rs17054863	1.00[EUR][1000 genomes]
rs7320568	1.00[EUR][1000 genomes]
rs7995985	1.00[EUR][1000 genomes]
rs7999226	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8000672	1.00[EUR][1000 genomes]
rs8001724	1.00[EUR][1000 genomes]
rs9285111	1.00[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
2	chr13:37576200-37606200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:37576200-37623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:37576400-37607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:37576400-37608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:37576400-37618800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:37576400-37623800	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:37576600-37600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:37576600-37608400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:37576600-37623000	Strong transcription	Liver	Liver
11	chr13:37576600-37625800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr13:37576800-37600600	Strong transcription	HUVEC	blood vessel
13	chr13:37576800-37603000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:37576800-37609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:37576800-37621200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr13:37576800-37623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:37577000-37608400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:37577000-37608600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:37577000-37623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:37577000-37623400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr13:37577000-37624400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:37577200-37623200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr13:37577200-37625200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr13:37577200-37625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:37577200-37625800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr13:37577600-37623600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr13:37578200-37615200	Weak transcription	K562	blood
28	chr13:37580000-37608600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:37581800-37602200	Weak transcription	Psoas Muscle	Psoas
30	chr13:37581800-37622800	Strong transcription	Dnd41	blood
31	chr13:37582800-37609600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:37583000-37622800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr13:37583000-37623400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:37583200-37622600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:37584200-37598000	Weak transcription	Spleen	Spleen
36	chr13:37584200-37602400	Weak transcription	Fetal Heart	heart
37	chr13:37585400-37598000	Weak transcription	Lung	lung
38	chr13:37585400-37616000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:37586800-37623400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr13:37587000-37622200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:37587800-37599800	Strong transcription	Fetal Lung	lung
42	chr13:37587800-37618000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr13:37587800-37622600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr13:37588000-37611800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr13:37588400-37622400	Strong transcription	Adipose Nuclei	Adipose
46	chr13:37588600-37619600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:37588800-37598600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr13:37588800-37599600	Strong transcription	Primary T cells from cord blood	blood
49	chr13:37588800-37603800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:37588800-37614200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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