Variant report

Variant	rs73048551
Chromosome Location	chr1:172445703-172445704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172420442..172423241-chr1:172445143..172447000,2	MCF-7	breast:
2	chr1:172444678..172448407-chr1:172449595..172452783,4	MCF-7	breast:
3	chr1:172430415..172432096-chr1:172445397..172448022,2	MCF-7	breast:
4	chr1:172445585..172447486-chr1:172451188..172453477,2	MCF-7	breast:
5	chr1:172443498..172448130-chr1:172464565..172470217,6	MCF-7	breast:
6	chr1:172444366..172446246-chr1:172448282..172450692,2	K562	blood:
7	chr1:172429679..172431187-chr1:172444301..172447240,2	MCF-7	breast:
8	chr1:172417013..172420317-chr1:172444254..172448233,5	MCF-7	breast:
9	chr1:172443879..172448097-chr1:172501090..172503799,4	MCF-7	breast:
10	chr1:172443532..172455037-chr1:172498094..172506505,15	MCF-7	breast:
11	chr1:172421586..172423594-chr1:172445485..172447326,2	MCF-7	breast:
12	chr1:172444481..172448040-chr1:172465983..172470352,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction
ENSG00000180999	Chromatin interaction

rs_ID	r²[population]
rs1894634	0.91[AFR][1000 genomes]
rs2097500	0.91[AFR][1000 genomes]
rs2157450	0.82[AFR][1000 genomes]
rs6669286	0.81[AFR][1000 genomes]
rs6690191	0.82[AFR][1000 genomes]
rs9286858	0.89[AFR][1000 genomes]
rs9425329	0.82[AFR][1000 genomes]
rs9425334	0.89[AFR][1000 genomes]

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172438200-172449200	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:172443000-172448400	Weak transcription	K562	blood
3	chr1:172443400-172446600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:172443400-172446800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:172444200-172448000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:172444200-172448400	Enhancers	HMEC	breast
7	chr1:172444200-172456200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:172444400-172448200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:172444400-172448200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:172444800-172445800	Enhancers	Hela-S3	cervix
11	chr1:172445000-172446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:172445000-172449400	Weak transcription	Primary T cells from cord blood	blood
13	chr1:172445000-172452400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:172445200-172446800	Enhancers	A549	lung
15	chr1:172445200-172447600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:172445400-172445800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:172445400-172445800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:172445400-172445800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:172445400-172445800	Enhancers	Fetal Intestine Large	intestine
20	chr1:172445400-172445800	Enhancers	Fetal Intestine Small	intestine
21	chr1:172445400-172445800	Enhancers	Gastric	stomach
22	chr1:172445400-172445800	Enhancers	Pancreas	Pancrea
23	chr1:172445400-172445800	Enhancers	Stomach Mucosa	stomach
24	chr1:172445400-172446800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:172445400-172446800	Enhancers	Esophagus	oesophagus
26	chr1:172445400-172447400	Enhancers	Placenta	Placenta
27	chr1:172445600-172445800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:172445600-172445800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:172445600-172445800	Flanking Active TSS	NHEK	skin
30	chr1:172445600-172448600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:172445600-172449800	Weak transcription	HepG2	liver

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