Variant report

Variant	rs4583723
Chromosome Location	chr4:88161312-88161313
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10000324	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10084835	0.80[AMR][1000 genomes]
rs11929874	0.95[ASN][1000 genomes]
rs13140105	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6531965	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6531967	0.86[AMR][1000 genomes]
rs6834488	0.96[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6858253	0.85[ASN][1000 genomes]
rs7656630	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7688657	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1014846	chr4:88151614-88188335	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537170	chr4:88151614-88188335	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4583723	HSD17B13	cis	cerebellum	SCAN
rs4583723	HSD17B11	cis	parietal	SCAN
rs4583723	HSD17B13	cis	parietal	SCAN
rs4583723	CDS1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88157400-88161400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:88157800-88161400	Weak transcription	Adipose Nuclei	Adipose
3	chr4:88160200-88161600	Active TSS	A549	lung
4	chr4:88160400-88161800	Enhancers	Osteobl	bone
5	chr4:88160400-88162800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:88160600-88161600	Enhancers	Fetal Intestine Small	intestine
7	chr4:88160600-88161800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:88160600-88161800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:88160600-88161800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:88161000-88161400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:88161000-88161800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:88161000-88161800	Enhancers	Fetal Intestine Large	intestine
13	chr4:88161200-88161400	Enhancers	Small Intestine	intestine
14	chr4:88161200-88161600	Enhancers	Liver	Liver
15	chr4:88161200-88161600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:88161200-88161600	Enhancers	Colon Smooth Muscle	Colon
17	chr4:88161200-88161600	Enhancers	Fetal Kidney	kidney
18	chr4:88161200-88161600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr4:88161200-88161600	Enhancers	HSMMtube	muscle
20	chr4:88161200-88161800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:88161200-88161800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:88161200-88161800	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:88161200-88161800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:88161200-88161800	Enhancers	Stomach Mucosa	stomach
25	chr4:88161200-88162000	Enhancers	Brain Hippocampus Middle	brain
26	chr4:88161200-88162000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:88161200-88162000	Enhancers	HepG2	liver
28	chr4:88161200-88162400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:88161200-88162600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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