Variant report

Variant	rs4847336
Chromosome Location	chr1:93233602-93233603
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	chr1:93225286..93227993-chr1:93232044..93233868,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10782941	0.81[EUR][1000 genomes]
rs10874736	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10874738	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11164796	0.81[AMR][1000 genomes]
rs11164807	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11164810	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12021539	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12123935	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12401423	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1337107	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1535372	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2107518	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2107519	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2145824	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2391197	0.83[EUR][1000 genomes]
rs4480368	0.83[AMR][1000 genomes]
rs4622073	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4847301	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4847306	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4847311	0.86[EUR][1000 genomes]
rs6604013	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6604014	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6660136	0.81[AMR][1000 genomes]
rs6666831	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6675753	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6680578	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7539761	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7549341	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7551324	0.89[AMR][1000 genomes];0.88[EUR][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv871263	chr1:93196273-93248228	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4847336	EVI5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
2	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:93214000-93248400	Weak transcription	Lung	lung
4	chr1:93221400-93233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
6	chr1:93222400-93233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:93222400-93234000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:93222400-93240600	Weak transcription	Left Ventricle	heart
9	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
12	chr1:93222600-93246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:93222800-93233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:93224800-93234000	Weak transcription	Fetal Intestine Small	intestine
15	chr1:93224800-93234000	Weak transcription	Psoas Muscle	Psoas
16	chr1:93225600-93248000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:93226000-93249200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:93227800-93233800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:93228000-93240600	Weak transcription	Pancreas	Pancrea
20	chr1:93228200-93233800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:93230200-93233800	Weak transcription	NHEK	skin
22	chr1:93231600-93234000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:93231600-93236600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:93231600-93248000	Weak transcription	Adipose Nuclei	Adipose
25	chr1:93233000-93240000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:93233400-93239000	Weak transcription	Ovary	ovary

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