Variant report

Variant	rs55892452
Chromosome Location	chr1:209570203-209570204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209565872..209577230-chr1:209599783..209610462,26	MCF-7	breast:
2	chr1:209568284..209570251-chr1:209593131..209594689,2	MCF-7	breast:
3	chr1:209569453..209572722-chr1:209605259..209608097,3	MCF-7	breast:
4	chr1:209553994..209556272-chr1:209567588..209570552,2	MCF-7	breast:
5	chr1:209569255..209571972-chr1:209582000..209584014,2	MCF-7	breast:
6	chr1:209564315..209567054-chr1:209569341..209571692,2	K562	blood:
7	chr1:209568446..209570232-chr1:209601693..209603599,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11800822	1.00[EUR][1000 genomes]
rs12144725	0.87[AFR][1000 genomes]
rs17014178	1.00[EUR][1000 genomes]
rs17014186	1.00[EUR][1000 genomes]
rs17014360	1.00[EUR][1000 genomes]
rs17014368	1.00[EUR][1000 genomes]
rs17014373	1.00[EUR][1000 genomes]
rs41274824	1.00[EUR][1000 genomes]
rs6674793	0.81[AFR][1000 genomes]
rs74155476	1.00[EUR][1000 genomes]
rs74155478	0.89[AFR][1000 genomes]
rs74155479	0.89[AFR][1000 genomes]
rs74155480	0.84[AFR][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	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209561000-209571400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:209563200-209571400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:209563200-209572800	Weak transcription	Esophagus	oesophagus
4	chr1:209563600-209571200	Weak transcription	HSMM	muscle
5	chr1:209563600-209571400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:209563600-209571600	Weak transcription	NH-A	brain
7	chr1:209565800-209571600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:209566000-209571200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:209566200-209571400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:209566400-209571200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:209567200-209584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:209567400-209571200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:209567400-209575600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:209567800-209571800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:209568200-209571000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:209568400-209578200	Enhancers	HMEC	breast
17	chr1:209568800-209571000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:209569000-209570400	Enhancers	NHEK	skin
19	chr1:209569000-209571000	Weak transcription	Osteobl	bone
20	chr1:209569000-209571400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:209569000-209571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:209569000-209571400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:209569000-209571600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:209569000-209571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:209569200-209570600	Enhancers	Brain Hippocampus Middle	brain
26	chr1:209569200-209570800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:209569200-209571200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:209569200-209571400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:209569200-209571400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:209569200-209571400	Weak transcription	NHLF	lung
31	chr1:209569200-209571600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:209569600-209570600	Weak transcription	Hela-S3	cervix
33	chr1:209569600-209571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:209569600-209571400	Weak transcription	A549	lung
35	chr1:209569800-209571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:209569800-209571600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:209569800-209573400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:209570000-209573000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:209570000-209574400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:209570200-209571000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:209570200-209571200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:209570200-209571200	Weak transcription	Lung	lung
43	chr1:209570200-209573000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:209570200-209574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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