Variant report

Variant	rs9576805
Chromosome Location	chr13:40026076-40026077
allele	C/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	MYC	chr13:40025465-40027107	NB4	blood:	n/a	n/a
2	KAP1	chr13:40025874-40026399	U2OS	brain:	n/a	chr13:40026171-40026179
3	SPI1	chr13:40025948-40026196	GM12891	blood:	n/a	chr13:40026033-40026046
4	KAP1	chr13:40025670-40026999	HEK293	kidney:	n/a	chr13:40026171-40026179
5	MEF2C	chr13:40025812-40026313	GM12878	blood:	n/a	chr13:40026114-40026128 chr13:40026112-40026133 chr13:40026112-40026133
6	SPI1	chr13:40025818-40026487	HL-60	blood:	n/a	chr13:40026033-40026046
7	SPI1	chr13:40025802-40026580	HL-60	blood:	n/a	chr13:40026033-40026046
8	BHLHE40	chr13:40025875-40026305	GM12878	blood:	n/a	n/a
9	MEF2A	chr13:40025928-40026351	GM12878	blood:	n/a	chr13:40026114-40026128 chr13:40026112-40026133 chr13:40026112-40026133
10	SPI1	chr13:40025663-40026414	GM12878	blood:	n/a	chr13:40026033-40026046
11	POLR2A	chr13:40025833-40026604	HL-60	blood:	n/a	n/a
12	POLR2A	chr13:40025832-40026467	SK-N-MC	brain:	n/a	n/a
13	EP300	chr13:40025996-40026196	GM12878	blood:	n/a	chr13:40026035-40026049
14	SPI1	chr13:40025916-40026159	GM12878	blood:	n/a	chr13:40026033-40026046
15	MEF2A	chr13:40025968-40026275	GM12878	blood:	n/a	chr13:40026114-40026128 chr13:40026112-40026133 chr13:40026112-40026133
16	SPI1	chr13:40025908-40026112	GM12878	blood:	n/a	chr13:40026033-40026046
17	MAX	chr13:40025907-40026934	NB4	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000238408	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2011719	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2012553	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2148933	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182780	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182781	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4340189	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456371	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4499118	0.83[AMR][1000 genomes]
rs4569130	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943666	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563706	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6563707	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7319652	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7322023	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7326279	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7330999	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7337916	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs737645	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7983763	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7985325	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7996782	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7998182	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8000420	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315688	0.83[AMR][1000 genomes]
rs943568	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548779	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9576807	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9576810	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9576811	0.83[AMR][1000 genomes]
rs9576812	0.82[AMR][1000 genomes]
rs9603544	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1011	chr13:40008962-40034177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv561536	chr13:40015948-40043224	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr13:40013400-40026200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:40017600-40026200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:40020800-40026200	Weak transcription	Lung	lung
4	chr13:40021800-40027800	Enhancers	Fetal Heart	heart
5	chr13:40022000-40029200	Weak transcription	Spleen	Spleen
6	chr13:40023000-40028000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:40023200-40026400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:40023400-40026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:40023400-40026200	Weak transcription	Right Atrium	heart
10	chr13:40023400-40026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:40023400-40026400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:40023400-40026600	Weak transcription	Left Ventricle	heart
13	chr13:40023400-40026600	Weak transcription	Right Ventricle	heart
14	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
15	chr13:40023800-40026200	Weak transcription	Brain Substantia Nigra	brain
16	chr13:40023800-40026400	Weak transcription	Brain Angular Gyrus	brain
17	chr13:40024000-40028000	Enhancers	Brain Hippocampus Middle	brain
18	chr13:40024600-40027200	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:40024600-40027400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr13:40024600-40027600	Enhancers	Adipose Nuclei	Adipose
21	chr13:40024600-40028000	Enhancers	Colon Smooth Muscle	Colon
22	chr13:40024600-40028200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:40024600-40028200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr13:40024800-40027000	Enhancers	Primary B cells from cord blood	blood
25	chr13:40025000-40027400	Enhancers	Primary hematopoietic stem cells	blood
26	chr13:40025000-40027600	Enhancers	Brain Anterior Caudate	brain
27	chr13:40025000-40028000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr13:40025200-40026200	Enhancers	Liver	Liver
29	chr13:40025200-40026800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr13:40025200-40027000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:40025200-40028000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:40025400-40026200	Enhancers	GM12878-XiMat	blood
33	chr13:40025400-40028000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:40025400-40028000	Enhancers	Brain Germinal Matrix	brain
35	chr13:40025400-40028200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr13:40025600-40026400	Enhancers	Rectal Smooth Muscle	rectum
37	chr13:40025600-40026600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:40025600-40026600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr13:40025600-40026800	Enhancers	NHDF-Ad	bronchial
40	chr13:40025600-40027200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr13:40025600-40027200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr13:40025600-40027400	Enhancers	Fetal Lung	lung
43	chr13:40025600-40028200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:40025600-40028200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr13:40025600-40033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:40025800-40026600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr13:40025800-40027200	Enhancers	HSMMtube	muscle
48	chr13:40025800-40027400	Enhancers	Fetal Muscle Leg	muscle
49	chr13:40026000-40026200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:40026000-40026200	Enhancers	Monocytes-CD14+_RO01746	blood

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