Variant report

Variant	rs10006766
Chromosome Location	chr4:88160018-88160019
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	chr4:88139583..88141697-chr4:88158453..88160526,2	MCF-7	breast:
2	chr4:87866844..87868969-chr4:88158554..88161014,2	K562	blood:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10001545	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10029254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433937	0.96[GIH][hapmap]
rs11929874	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11935592	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13113529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130041	0.96[GIH][hapmap]
rs13130929	0.82[CEU][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes]
rs13137873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418877	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28439498	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28664118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35624376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35844368	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4998663	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7656630	0.87[ASN][1000 genomes]
rs7694379	0.86[GIH][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10006766	HSD17B11	cis	parietal	SCAN
rs10006766	HSD17B13	cis	parietal	SCAN
rs10006766	HSD17B13	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88157400-88160600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:88157400-88161000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:88157400-88161200	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:88157400-88161200	Weak transcription	Fetal Kidney	kidney
5	chr4:88157400-88161200	Weak transcription	Fetal Lung	lung
6	chr4:88157400-88161200	Weak transcription	HSMMtube	muscle
7	chr4:88157400-88161400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:88157600-88160400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:88157600-88160400	Weak transcription	Osteobl	bone
10	chr4:88157600-88160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:88157600-88160600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:88157600-88160600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:88157600-88161000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:88157600-88161000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:88157600-88161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:88157600-88161200	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:88157600-88161200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:88157600-88161200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:88157600-88161200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:88157800-88160600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:88157800-88161200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:88157800-88161200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:88157800-88161200	Weak transcription	Liver	Liver
24	chr4:88157800-88161200	Weak transcription	Stomach Mucosa	stomach
25	chr4:88157800-88161400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:88158400-88161200	Weak transcription	HepG2	liver
27	chr4:88158800-88160200	Weak transcription	A549	lung
28	chr4:88159000-88160600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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