Variant report

Variant	rs59814571
Chromosome Location	chr1:78009448-78009449
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	chr1:77991832..77994057-chr1:78008305..78010332,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17100377	1.00[EUR][1000 genomes]
rs57939520	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59090864	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59272007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090498	1.00[AMR][1000 genomes]
rs74090606	1.00[AMR][1000 genomes]
rs74090629	1.00[AMR][1000 genomes]
rs74090656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74090699	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74092605	1.00[AMR][1000 genomes]
rs74092606	1.00[AMR][1000 genomes]
rs74092608	1.00[AMR][1000 genomes]
rs74092611	1.00[AMR][1000 genomes]
rs74092612	1.00[AMR][1000 genomes]
rs74092614	1.00[AMR][1000 genomes]
rs74092615	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77998000-78014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:77999600-78009600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:78000000-78011600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:78000000-78030600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:78000000-78031200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:78004800-78010800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:78005600-78010200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:78005600-78010400	Weak transcription	Fetal Heart	heart
9	chr1:78005600-78014000	Weak transcription	Right Ventricle	heart
10	chr1:78005600-78034800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:78005800-78010800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:78005800-78011000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:78005800-78014000	Weak transcription	Right Atrium	heart
14	chr1:78005800-78026200	Weak transcription	Left Ventricle	heart
15	chr1:78005800-78032400	Weak transcription	Psoas Muscle	Psoas
16	chr1:78006000-78010000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:78006000-78011400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:78006000-78013600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:78006000-78014000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:78006000-78022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:78006000-78026200	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:78006000-78031000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:78006200-78011400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:78006200-78024400	Weak transcription	HSMMtube	muscle
25	chr1:78006200-78027200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:78006200-78064400	Weak transcription	Stomach Mucosa	stomach
27	chr1:78006400-78010600	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:78006400-78011200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:78006400-78011400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:78006400-78011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:78006800-78009800	Weak transcription	Primary T cells from cord blood	blood
32	chr1:78007000-78009800	Enhancers	Hela-S3	cervix
33	chr1:78007000-78010000	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr1:78007200-78011400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:78007400-78010400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:78007600-78009800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:78007800-78028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:78008000-78011400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:78008000-78011800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:78008200-78010600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:78008400-78009600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:78008600-78009600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:78008600-78010000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:78009000-78010200	Weak transcription	NH-A	brain
45	chr1:78009000-78010800	Weak transcription	Osteobl	bone
46	chr1:78009000-78011400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:78009000-78011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:78009000-78011600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:78009000-78011600	Weak transcription	HSMM	muscle
50	chr1:78009000-78014200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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