Variant report

Variant	rs58369306
Chromosome Location	chr1:184474528-184474529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184473276..184475558-chr1:184475798..184477583,2	MCF-7	breast:
2	chr1:184470841..184472476-chr1:184474091..184476482,2	MCF-7	breast:
3	chr1:184461015..184462791-chr1:184472778..184474558,2	MCF-7	breast:
4	chr1:184461404..184463395-chr1:184472896..184475254,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10489727	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823266	1.00[AMR][1000 genomes]
rs1977144	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61004935	1.00[AMR][1000 genomes]
rs73046716	1.00[AMR][1000 genomes]
rs73061657	1.00[AMR][1000 genomes]
rs73063518	1.00[AMR][1000 genomes]
rs73063548	1.00[AMR][1000 genomes]
rs73063553	0.88[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184455200-184482000	Weak transcription	Esophagus	oesophagus
2	chr1:184456400-184502200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:184459600-184483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:184461000-184482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:184461600-184475400	Weak transcription	NHEK	skin
6	chr1:184461600-184476800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:184461600-184479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:184461600-184502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:184463800-184476400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:184464200-184475800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:184464400-184476400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:184464400-184478400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:184467800-184475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:184468000-184482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:184469400-184476400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:184469400-184478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:184471400-184474800	Enhancers	Left Ventricle	heart
18	chr1:184473600-184475800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:184473600-184476400	Weak transcription	Brain Anterior Caudate	brain
20	chr1:184473600-184476400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:184473600-184476400	Weak transcription	Small Intestine	intestine
22	chr1:184473600-184476600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:184473600-184478400	Weak transcription	Lung	lung
24	chr1:184473600-184489400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:184473800-184476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:184473800-184476400	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:184473800-184476800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:184473800-184476800	Weak transcription	HSMMtube	muscle
29	chr1:184473800-184480200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:184473800-184483000	Weak transcription	Colonic Mucosa	Colon
31	chr1:184474000-184475800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:184474000-184475800	Weak transcription	HSMM	muscle
33	chr1:184474000-184476400	Weak transcription	Stomach Mucosa	stomach
34	chr1:184474000-184477200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:184474200-184474800	Enhancers	Psoas Muscle	Psoas
36	chr1:184474200-184476400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:184474200-184476400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:184474200-184476400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:184474200-184476400	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:184474200-184476400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:184474200-184476400	Weak transcription	Fetal Stomach	stomach
42	chr1:184474200-184476600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:184474200-184476800	Weak transcription	Fetal Brain Female	brain
44	chr1:184474200-184476800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:184474200-184477000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:184474200-184478600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:184474200-184482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:184474200-184488600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:184474400-184474600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:184474400-184475400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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