Variant report

Variant	rs58703459
Chromosome Location	chr1:184581256-184581257
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	chr1:184580848..184583559-chr1:184594169..184597015,2	MCF-7	breast:
2	chr1:184579340..184581537-chr1:184590381..184593338,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158270	1.00[EUR][1000 genomes]
rs12057256	1.00[EUR][1000 genomes]
rs12062390	1.00[EUR][1000 genomes]
rs12079052	1.00[EUR][1000 genomes]
rs12079092	1.00[EUR][1000 genomes]
rs12084533	1.00[EUR][1000 genomes]
rs16823167	1.00[AMR][1000 genomes]
rs6688083	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131687	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134113	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134117	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74134118	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74134119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184557200-184591600	Weak transcription	Aorta	Aorta
2	chr1:184559000-184588400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:184560600-184591000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:184566800-184588600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:184567200-184590200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:184568400-184588600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:184569800-184588800	Weak transcription	Liver	Liver
8	chr1:184571600-184582600	Weak transcription	GM12878-XiMat	blood
9	chr1:184571600-184591200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:184573600-184598800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:184573800-184588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:184574400-184588600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:184574800-184584000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:184574800-184589000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:184577400-184581600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:184577800-184585600	Weak transcription	Right Ventricle	heart
17	chr1:184578200-184591400	Weak transcription	Lung	lung
18	chr1:184578400-184584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:184578400-184584000	Weak transcription	Spleen	Spleen
20	chr1:184578400-184584200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:184578400-184586600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:184578600-184584000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:184578600-184598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:184580000-184581400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:184580400-184581400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:184580400-184581400	Enhancers	HMEC	breast
27	chr1:184580400-184581600	Enhancers	Colon Smooth Muscle	Colon
28	chr1:184580400-184581600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:184580400-184581600	Enhancers	Psoas Muscle	Psoas
30	chr1:184580400-184582000	Enhancers	NHEK	skin
31	chr1:184580600-184581400	Enhancers	A549	lung
32	chr1:184580600-184588600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:184580600-184591000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:184580600-184591400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:184580800-184581400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:184580800-184582000	Weak transcription	Brain Anterior Caudate	brain
37	chr1:184580800-184582600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:184580800-184584000	Weak transcription	Left Ventricle	heart
39	chr1:184580800-184584200	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:184580800-184584400	Weak transcription	Brain Substantia Nigra	brain
41	chr1:184580800-184588400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:184580800-184588800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:184580800-184590200	Weak transcription	Right Atrium	heart
44	chr1:184580800-184590400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:184580800-184590600	Weak transcription	Adipose Nuclei	Adipose
46	chr1:184580800-184591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:184580800-184605000	Weak transcription	Fetal Brain Female	brain
48	chr1:184581000-184582600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:184581000-184583800	Weak transcription	Fetal Lung	lung
50	chr1:184581000-184583800	Weak transcription	Fetal Stomach	stomach

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