Variant report

Variant	rs10092027
Chromosome Location	chr8:89338388-89338389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr8:89338233-89338602	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr8:89338304-89341720	H1-neurons	neurons:	n/a	chr8:89338460-89338480 chr8:89340911-89340924 chr8:89339589-89339602 chr8:89339193-89339201 chr8:89339268-89339281
3	MAZ	chr8:89338387-89341782	IMR90	lung:	n/a	chr8:89341085-89341095 chr8:89340475-89340485 chr8:89341517-89341533
4	SMC3	chr8:89338346-89341621	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr8:89338299-89341547	SK-N-SH	brain:	n/a	chr8:89339547-89339555
6	SIN3AK20	chr8:89338348-89338700	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr8:89338281-89341421	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr8:89336029-89341963	SK-N-SH	brain:	n/a	n/a
9	RAD21	chr8:89338182-89341792	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000253553	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10087586	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10091273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10094621	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10098498	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10102914	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108501	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10955601	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28665226	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28896612	0.92[AFR][1000 genomes]
rs9297471	0.88[AFR][1000 genomes];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	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89333200-89341600	Active TSS	Fetal Brain Female	brain
2	chr8:89334600-89341600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:89335000-89341400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr8:89335000-89341400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:89335200-89341200	Active TSS	Brain Germinal Matrix	brain
6	chr8:89335800-89339000	Active TSS	Fetal Muscle Leg	muscle
7	chr8:89335800-89341200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:89336000-89340200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:89336000-89340800	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:89336000-89341000	Active TSS	Aorta	Aorta
11	chr8:89336000-89341000	Active TSS	Fetal Stomach	stomach
12	chr8:89336000-89341400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:89336000-89341400	Active TSS	Brain Angular Gyrus	brain
14	chr8:89336200-89338600	Active TSS	Brain Hippocampus Middle	brain
15	chr8:89336200-89338600	Flanking Active TSS	HUVEC	blood vessel
16	chr8:89336200-89341400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr8:89336200-89341400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:89336200-89341400	Active TSS	Brain Anterior Caudate	brain
19	chr8:89336400-89338400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:89336400-89340800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:89336400-89341000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:89336400-89341200	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:89336600-89340400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:89336800-89338400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:89336800-89341200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:89337000-89341200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:89337000-89341400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:89337200-89341200	Active TSS	Fetal Kidney	kidney
29	chr8:89337200-89341400	Active TSS	NHDF-Ad	bronchial
30	chr8:89337200-89341600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:89337400-89341000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr8:89337400-89341600	Active TSS	NH-A	brain
33	chr8:89337600-89338600	Flanking Active TSS	Fetal Lung	lung
34	chr8:89337600-89338800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr8:89337600-89341200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:89337600-89341200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:89337600-89341200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:89337600-89341200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
39	chr8:89337600-89341400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:89337800-89338400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr8:89337800-89340800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:89337800-89341200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:89337800-89341200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:89337800-89341400	Active TSS	Fetal Brain Male	brain
45	chr8:89338000-89338400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:89338000-89338400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr8:89338000-89338400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:89338000-89338400	Flanking Active TSS	Fetal Heart	heart
49	chr8:89338000-89338600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:89338000-89338800	Flanking Active TSS	Osteobl	bone

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