Variant report

Variant	rs72745249
Chromosome Location	chr1:211699866-211699867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211555911..211557687-chr1:211699501..211701267,2	K562	blood:
2	chr1:211698404..211701104-chr1:211743081..211745100,2	MCF-7	breast:
3	chr1:211692018..211701005-chr1:211746984..211755135,17	MCF-7	breast:
4	chr1:211687930..211690976-chr1:211698757..211702069,3	K562	blood:

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72743271	1.00[AMR][1000 genomes]
rs72747012	1.00[AMR][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211688200-211701200	Weak transcription	Gastric	stomach
2	chr1:211689400-211701200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:211691000-211700400	Weak transcription	Fetal Thymus	thymus
5	chr1:211695200-211701200	Weak transcription	Right Atrium	heart
6	chr1:211696400-211700400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:211698000-211700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:211698000-211700200	Weak transcription	Spleen	Spleen
9	chr1:211698000-211700400	Weak transcription	Adipose Nuclei	Adipose
10	chr1:211698000-211700600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:211698200-211702400	Weak transcription	Esophagus	oesophagus
12	chr1:211698400-211702400	Weak transcription	Liver	Liver
13	chr1:211698600-211701200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:211698800-211700200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:211699000-211700200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:211699000-211700200	Weak transcription	Right Ventricle	heart
17	chr1:211699000-211700800	Weak transcription	HUVEC	blood vessel
18	chr1:211699000-211701200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:211699000-211702800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:211699200-211700200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:211699200-211700200	Enhancers	GM12878-XiMat	blood
22	chr1:211699400-211700600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:211699400-211705600	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:211699800-211701600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:211699800-211701600	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:211699800-211701800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:211699800-211702200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:211699800-211702400	Weak transcription	K562	blood
29	chr1:211699800-211705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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