Variant report

Variant	rs2545250
Chromosome Location	chr5:167374386-167374387
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167361443..167363556-chr5:167372770..167374605,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145934	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7379592	1.00[EUR][1000 genomes]
rs7708803	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[TSI][hapmap]

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	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2545250	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167364400-167376400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167367200-167377600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:167367600-167378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:167369200-167378200	Enhancers	HSMM	muscle
5	chr5:167369600-167375400	Enhancers	Fetal Heart	heart
6	chr5:167369800-167374600	Enhancers	NH-A	brain
7	chr5:167370000-167377400	Enhancers	HSMMtube	muscle
8	chr5:167370000-167378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:167370200-167374600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:167371200-167374800	Enhancers	Osteobl	bone
11	chr5:167371400-167374800	Enhancers	Fetal Muscle Leg	muscle
12	chr5:167371400-167375000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:167371800-167377400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:167372200-167374800	Enhancers	Ovary	ovary
15	chr5:167372200-167375200	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:167372600-167375000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:167372800-167374600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:167372800-167374600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:167372800-167378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:167373000-167376200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:167373200-167374400	Weak transcription	Fetal Lung	lung
22	chr5:167373200-167377000	Weak transcription	Fetal Brain Male	brain
23	chr5:167373200-167377200	Weak transcription	Fetal Kidney	kidney
24	chr5:167373200-167378000	Enhancers	HMEC	breast
25	chr5:167373400-167374800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:167373400-167376000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:167373400-167376000	Weak transcription	NHEK	skin
28	chr5:167373400-167376800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:167373400-167377000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:167373400-167377400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:167373400-167378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:167373400-167378000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:167373400-167378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:167373400-167378200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:167373400-167378600	Weak transcription	Esophagus	oesophagus
36	chr5:167373600-167375800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:167373600-167379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:167373800-167376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:167373800-167377200	Weak transcription	Fetal Stomach	stomach
40	chr5:167374000-167374400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:167374000-167374400	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:167374000-167374400	Weak transcription	Left Ventricle	heart
43	chr5:167374000-167375800	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:167374200-167375000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:167374200-167377200	Weak transcription	Right Ventricle	heart
46	chr5:167374200-167377200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:167374200-167377400	Weak transcription	Right Atrium	heart

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