Variant report

Variant	rs73831579
Chromosome Location	chr3:48558300-48558301
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	chr3:48549854..48552733-chr3:48556250..48558501,2	MCF-7	breast:
2	chr3:48553221..48555693-chr3:48556797..48558474,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10780032	1.00[EUR][1000 genomes]
rs11130169	1.00[EUR][1000 genomes]
rs11915428	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2098101	0.83[AMR][1000 genomes]
rs3924179	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4858818	1.00[EUR][1000 genomes]
rs55782175	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56841797	0.83[AMR][1000 genomes]
rs58708931	1.00[EUR][1000 genomes]
rs58835493	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs60352528	1.00[EUR][1000 genomes]
rs6442122	1.00[EUR][1000 genomes]
rs6762888	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6787988	0.83[AMR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs6793732	1.00[EUR][1000 genomes]
rs6801348	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[EUR][1000 genomes]
rs73831565	1.00[EUR][1000 genomes]
rs73831572	1.00[EUR][1000 genomes]
rs73831577	1.00[EUR][1000 genomes]
rs73831580	0.83[AMR][1000 genomes]
rs7633433	1.00[EUR][1000 genomes]
rs898226	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9852211	1.00[EUR][1000 genomes]
rs9860187	1.00[EUR][1000 genomes]
rs9876812	1.00[EUR][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	nsv834684	chr3:48385699-48589323	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1802114	chr3:48498822-48577670	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv1004383	chr3:48543794-48649772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48542800-48562800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:48542800-48569800	Weak transcription	Right Atrium	heart
3	chr3:48544000-48561000	Weak transcription	K562	blood
4	chr3:48545000-48559800	Weak transcription	Fetal Intestine Large	intestine
5	chr3:48545200-48558400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:48545200-48558600	Weak transcription	NHLF	lung
7	chr3:48545200-48572400	Weak transcription	Brain Angular Gyrus	brain
8	chr3:48545400-48558400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:48545400-48558800	Weak transcription	Gastric	stomach
10	chr3:48545400-48565400	Weak transcription	Pancreas	Pancrea
11	chr3:48545400-48572600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:48545400-48572600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr3:48545600-48562600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:48545600-48570600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:48545600-48571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:48545600-48572600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:48547400-48559000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:48547400-48562000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:48547600-48591600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:48552800-48572600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:48553200-48558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:48553400-48558400	Weak transcription	A549	lung
23	chr3:48553600-48559400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:48553600-48564000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:48554000-48573000	Weak transcription	Right Ventricle	heart
26	chr3:48554200-48559600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:48554200-48561000	Weak transcription	Lung	lung
28	chr3:48554200-48565000	Strong transcription	Fetal Intestine Small	intestine
29	chr3:48554200-48572600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:48554200-48572600	Weak transcription	Dnd41	blood
31	chr3:48554400-48561200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:48554400-48562600	Weak transcription	NHEK	skin
33	chr3:48554400-48572600	Weak transcription	Aorta	Aorta
34	chr3:48554600-48562200	Weak transcription	Ovary	ovary
35	chr3:48554800-48558800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:48554800-48563400	Strong transcription	Brain Germinal Matrix	brain
37	chr3:48554800-48566400	Strong transcription	Fetal Brain Female	brain
38	chr3:48554800-48570800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr3:48555000-48563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:48555200-48582200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:48555400-48565800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:48555400-48572600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:48555400-48578000	Strong transcription	HepG2	liver
44	chr3:48555600-48558400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr3:48555600-48560000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr3:48555600-48567800	Weak transcription	NH-A	brain
47	chr3:48555800-48561400	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr3:48555800-48568000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:48556000-48559600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:48556000-48563000	Strong transcription	Brain Hippocampus Middle	brain

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