Variant report

Variant	rs59295359
Chromosome Location	chr1:185345688-185345689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185336579..185338652-chr1:185344761..185346664,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10911689	1.00[AMR][1000 genomes]
rs10911691	1.00[AMR][1000 genomes]
rs12064379	1.00[AMR][1000 genomes]
rs12072067	1.00[AMR][1000 genomes]
rs12074509	1.00[AMR][1000 genomes]
rs12076354	1.00[AMR][1000 genomes]
rs12088208	1.00[AMR][1000 genomes]
rs16823977	1.00[AFR][1000 genomes]
rs55940524	1.00[AMR][1000 genomes]
rs57172687	1.00[AFR][1000 genomes]
rs57402553	1.00[AMR][1000 genomes]
rs58169917	1.00[AMR][1000 genomes]
rs58478654	1.00[AMR][1000 genomes]
rs58677790	1.00[AMR][1000 genomes]
rs60373073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132215	1.00[AMR][1000 genomes]
rs74132217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132219	1.00[AFR][1000 genomes]
rs74132220	1.00[AFR][1000 genomes]
rs74132221	1.00[AFR][1000 genomes]
rs74132289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132291	1.00[AFR][1000 genomes]
rs74132294	1.00[AFR][1000 genomes]
rs74132300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132493	1.00[AMR][1000 genomes]
rs74132494	1.00[AMR][1000 genomes]
rs74132495	1.00[AMR][1000 genomes]
rs74132499	1.00[AMR][1000 genomes]
rs74132952	1.00[AMR][1000 genomes]
rs74134440	1.00[AMR][1000 genomes]
rs74135005	1.00[AMR][1000 genomes]
rs74135006	1.00[AMR][1000 genomes]
rs74135007	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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008247	chr1:185321360-185345771	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185342000-185347400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:185342400-185346400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:185343000-185347200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:185343200-185346400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:185343600-185346200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:185343800-185346000	Weak transcription	Osteobl	bone
7	chr1:185344000-185346800	Enhancers	HUVEC	blood vessel
8	chr1:185344400-185346600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:185344600-185345800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:185344600-185346400	Weak transcription	NH-A	brain
11	chr1:185344600-185346600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:185344800-185346200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:185345000-185345800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:185345000-185346000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:185345000-185346400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:185345200-185346000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:185345200-185346200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:185345200-185346200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:185345200-185346200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:185345400-185346000	Active TSS	Primary hematopoietic stem cells	blood
21	chr1:185345600-185345800	Active TSS	Primary B cells from cord blood	blood
22	chr1:185345600-185346000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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