Variant report

Variant	rs17054792
Chromosome Location	chr13:37565301-37565302
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37555533..37557211-chr13:37565179..37569543,3	MCF-7	breast:
2	chr13:37565071..37566908-chr13:37631657..37634080,2	MCF-7	breast:
3	chr13:37554957..37556941-chr13:37564099..37565843,2	K562	blood:
4	chr13:37564348..37566336-chr13:37583420..37585816,2	K562	blood:
5	chr13:37562956..37564649-chr13:37564921..37567792,2	MCF-7	breast:
6	chr13:37565187..37567095-chr13:37582150..37584069,2	MCF-7	breast:
7	chr13:37558525..37560139-chr13:37564523..37566978,2	K562	blood:

Variant related genes	Relation type
ENSG00000102710	Chromatin interaction

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

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

rs_ID	r²[population]
rs17054789	0.84[AFR][1000 genomes]
rs17054829	0.95[AFR][1000 genomes]
rs17054835	0.93[AFR][1000 genomes]
rs17054838	0.91[AFR][1000 genomes]
rs57719094	0.89[AFR][1000 genomes]
rs59899061	0.89[AFR][1000 genomes]
rs73543820	0.91[AFR][1000 genomes]
rs74045176	1.00[AFR][1000 genomes]
rs9594177	0.85[AFR][1000 genomes]
rs9603124	0.84[AFR][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	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
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:37531800-37570000	Strong transcription	Dnd41	blood
3	chr13:37547400-37570000	Strong transcription	Fetal Thymus	thymus
4	chr13:37547800-37570200	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:37549000-37569400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:37550000-37565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:37550400-37570200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:37550600-37570400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:37552200-37570000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr13:37552400-37570000	Strong transcription	Primary T cells from cord blood	blood
11	chr13:37552600-37570200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:37553200-37569600	Strong transcription	Placenta	Placenta
13	chr13:37553200-37569800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:37553200-37570000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr13:37554200-37569800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:37554400-37569400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr13:37554600-37569800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:37555200-37570200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:37555200-37571200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:37555600-37569200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr13:37555600-37570200	Strong transcription	Liver	Liver
22	chr13:37555600-37570200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr13:37555600-37570400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:37555600-37570400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr13:37555800-37567200	Weak transcription	Stomach Mucosa	stomach
26	chr13:37555800-37569400	Strong transcription	Adipose Nuclei	Adipose
27	chr13:37555800-37570000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:37555800-37570200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:37556000-37566600	Strong transcription	Fetal Muscle Leg	muscle
30	chr13:37556200-37569200	Strong transcription	Brain Hippocampus Middle	brain
31	chr13:37556200-37569600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:37556200-37569600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:37556200-37569800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr13:37556200-37569800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr13:37556200-37570200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:37556400-37569600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:37556400-37569600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:37556400-37569600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr13:37556400-37569600	Strong transcription	Fetal Lung	lung
40	chr13:37556400-37570000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr13:37556400-37570200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:37556400-37570200	Strong transcription	HSMM	muscle
43	chr13:37556400-37570400	Strong transcription	Primary B cells from cord blood	blood
44	chr13:37556400-37570400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr13:37556600-37569800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:37556600-37570200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr13:37556800-37569800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr13:37556800-37570200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:37557000-37569000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr13:37557000-37569000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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