Variant report

Variant	rs57590305
Chromosome Location	chr1:184362855-184362856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184358940..184362912-chr1:184372683..184376846,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16823065	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16823118	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2207524	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2378842	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814334	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3922451	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4387139	0.86[AFR][1000 genomes]
rs58863963	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59158738	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59237100	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59598210	0.91[ASN][1000 genomes]
rs60066136	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6424951	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6659461	0.88[ASN][1000 genomes]
rs6683308	0.88[AFR][1000 genomes]
rs73061677	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73061691	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73063504	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7525041	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7540074	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7550032	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184358000-184373400	Weak transcription	Ovary	ovary
2	chr1:184358200-184372200	Weak transcription	Fetal Kidney	kidney
3	chr1:184358200-184374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:184358400-184364400	Enhancers	HMEC	breast
5	chr1:184358400-184378200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:184358600-184363600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:184359000-184368600	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:184359000-184382800	Weak transcription	Fetal Stomach	stomach
9	chr1:184359200-184363000	Weak transcription	Osteobl	bone
10	chr1:184359400-184377000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:184359600-184363400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:184359600-184363600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:184359600-184364600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:184359600-184365600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:184359600-184371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:184359600-184377000	Weak transcription	A549	lung
17	chr1:184359600-184391200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:184359800-184366400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:184360200-184364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184360200-184364600	Weak transcription	Fetal Heart	heart
21	chr1:184360200-184364800	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:184360200-184371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:184360400-184364600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:184360400-184364600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:184360600-184363000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:184360600-184364800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:184360600-184365000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:184360600-184367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:184360600-184386200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:184360800-184363400	Weak transcription	NHLF	lung
31	chr1:184360800-184365000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:184360800-184368200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:184361400-184364000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:184361400-184364800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:184361600-184364200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:184362200-184363800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:184362200-184363800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:184362400-184363200	Flanking Active TSS	NHEK	skin
39	chr1:184362400-184363600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:184362400-184363600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:184362400-184374800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:184362600-184363600	Weak transcription	Left Ventricle	heart
43	chr1:184362600-184363800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:184362600-184364000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:184362600-184364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:184362600-184364600	Weak transcription	Right Atrium	heart
47	chr1:184362600-184365200	Weak transcription	Small Intestine	intestine
48	chr1:184362600-184368200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:184362600-184368400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:184362600-184368600	Weak transcription	Right Ventricle	heart

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