Variant report

Variant	rs73692228
Chromosome Location	chr8:89337237-89337238
allele	A/T
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	MXI1	chr8:89336029-89341963	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:89336276..89338217-chr8:89340889..89343054,2	K562	blood:
2	chr8:89335175..89338098-chr8:89338927..89340871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253553	TF binding region
ENSG00000253553	Chromatin interaction
ENSG00000156103	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28907871	0.91[AMR][1000 genomes]
rs28907872	0.91[AMR][1000 genomes]
rs28907898	0.80[AMR][1000 genomes]
rs73692229	0.96[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89320800-89337600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:89326600-89338200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:89333200-89337600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:89333200-89341600	Active TSS	Fetal Brain Female	brain
5	chr8:89334600-89341600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:89335000-89341400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr8:89335000-89341400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:89335200-89341200	Active TSS	Brain Germinal Matrix	brain
9	chr8:89335400-89337400	Active TSS	Fetal Brain Male	brain
10	chr8:89335800-89337800	Flanking Active TSS	Osteobl	bone
11	chr8:89335800-89339000	Active TSS	Fetal Muscle Leg	muscle
12	chr8:89335800-89341200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:89336000-89337800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:89336000-89340200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:89336000-89340800	Active TSS	Stomach Smooth Muscle	stomach
16	chr8:89336000-89341000	Active TSS	Aorta	Aorta
17	chr8:89336000-89341000	Active TSS	Fetal Stomach	stomach
18	chr8:89336000-89341400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:89336000-89341400	Active TSS	Brain Angular Gyrus	brain
20	chr8:89336200-89337600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:89336200-89338000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:89336200-89338600	Active TSS	Brain Hippocampus Middle	brain
23	chr8:89336200-89338600	Flanking Active TSS	HUVEC	blood vessel
24	chr8:89336200-89341400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr8:89336200-89341400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr8:89336200-89341400	Active TSS	Brain Anterior Caudate	brain
27	chr8:89336400-89338000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:89336400-89338000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:89336400-89338000	Enhancers	Fetal Heart	heart
30	chr8:89336400-89338400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:89336400-89340800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:89336400-89341000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:89336400-89341200	Active TSS	Brain Cingulate Gyrus	brain
34	chr8:89336600-89337400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:89336600-89337600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:89336600-89337800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:89336600-89340400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr8:89336800-89337400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr8:89336800-89337400	Flanking Active TSS	NH-A	brain
40	chr8:89336800-89337600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:89336800-89337600	Active TSS	Fetal Lung	lung
42	chr8:89336800-89338000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:89336800-89338400	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:89336800-89341200	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:89337000-89338200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:89337000-89341200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:89337000-89341400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:89337200-89337400	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr8:89337200-89337600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:89337200-89337600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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