Variant report

Variant	rs59834169
Chromosome Location	chr1:71527615-71527616
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	chr1:71510894..71514340-chr1:71523075..71528309,6	K562	blood:

Variant related genes	Relation type
ENSG00000050628	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128001	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10493483	0.89[AMR][1000 genomes]
rs10518356	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11556475	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376594	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17090802	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17090808	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17090925	0.82[AMR][1000 genomes]
rs17090932	0.89[AMR][1000 genomes]
rs17091001	0.89[AMR][1000 genomes]
rs17091015	0.93[AMR][1000 genomes]
rs17091024	0.89[AMR][1000 genomes]
rs17091028	0.93[AMR][1000 genomes]
rs2050066	0.84[EUR][1000 genomes]
rs41287936	1.00[EUR][1000 genomes]
rs5671	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5673	0.97[EUR][1000 genomes]
rs56752457	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5676	0.97[EUR][1000 genomes]
rs5691	0.97[EUR][1000 genomes]
rs58163483	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58281678	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58293304	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60078028	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs726352	0.89[AMR][1000 genomes]
rs74087222	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74090259	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7531741	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7552415	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71513600-71533600	Weak transcription	Lung	lung
2	chr1:71514000-71530600	Weak transcription	Ovary	ovary
3	chr1:71514000-71533600	Weak transcription	Pancreas	Pancrea
4	chr1:71514000-71533600	Weak transcription	Right Ventricle	heart
5	chr1:71514200-71533600	Weak transcription	Spleen	Spleen
6	chr1:71515800-71541000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:71519000-71530200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:71519200-71533400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:71519400-71528200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:71519600-71528000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:71520000-71536800	Weak transcription	Aorta	Aorta
12	chr1:71520400-71533600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:71520400-71534600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:71520600-71533600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:71520600-71544600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:71521000-71529800	Weak transcription	Brain Angular Gyrus	brain
17	chr1:71521200-71533600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:71521400-71530400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:71521400-71544200	Strong transcription	Adipose Nuclei	Adipose
20	chr1:71521600-71528400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:71521600-71536800	Weak transcription	Stomach Mucosa	stomach
22	chr1:71521800-71530400	Weak transcription	Small Intestine	intestine
23	chr1:71521800-71544600	Strong transcription	HSMM	muscle
24	chr1:71522000-71528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:71522000-71534400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:71522000-71543800	Strong transcription	Primary B cells from cord blood	blood
27	chr1:71522000-71544200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:71522000-71544200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:71522000-71544200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:71522000-71544400	Strong transcription	HMEC	breast
31	chr1:71522200-71529000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:71522200-71532600	Strong transcription	GM12878-XiMat	blood
33	chr1:71522200-71534000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:71522200-71540800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:71522200-71544200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr1:71522200-71544600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:71522400-71530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:71522400-71544200	Strong transcription	Liver	Liver
39	chr1:71522600-71532800	Strong transcription	Primary T cells from cord blood	blood
40	chr1:71522600-71533400	Weak transcription	Fetal Stomach	stomach
41	chr1:71522600-71544200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:71522600-71544200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:71522600-71544400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:71522600-71544400	Strong transcription	NH-A	brain
45	chr1:71522800-71540400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:71522800-71544400	Strong transcription	Fetal Thymus	thymus
47	chr1:71522800-71544600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:71522800-71544600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:71523000-71528400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:71523000-71531600	Strong transcription	A549	lung

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