Variant report

Variant	rs2501932
Chromosome Location	chr9:78990457-78990458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10121699	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10124695	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10869767	0.82[ASN][1000 genomes]
rs11144864	0.86[ASN][1000 genomes]
rs11144865	0.86[ASN][1000 genomes]
rs11144871	0.82[ASN][1000 genomes]
rs11144880	0.80[ASN][1000 genomes]
rs11788095	0.89[ASN][1000 genomes]
rs12057052	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13288968	0.98[ASN][1000 genomes]
rs13302654	0.88[ASN][1000 genomes]
rs1535845	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1961995	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002423	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2251604	0.82[ASN][1000 genomes]
rs2377639	0.86[ASN][1000 genomes]
rs2490572	0.96[ASN][1000 genomes]
rs2490573	0.88[ASN][1000 genomes]
rs2490574	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2490576	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2490579	0.82[ASN][1000 genomes]
rs2490583	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2490584	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2490586	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2501920	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2501922	0.81[ASN][1000 genomes]
rs2501923	0.82[ASN][1000 genomes]
rs2501925	0.81[ASN][1000 genomes]
rs2501927	0.82[ASN][1000 genomes]
rs2501928	0.86[ASN][1000 genomes]
rs2501930	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2501933	0.88[ASN][1000 genomes]
rs2501935	0.88[ASN][1000 genomes]
rs2501937	0.96[ASN][1000 genomes]
rs2501938	0.96[ASN][1000 genomes]
rs2501939	0.97[ASN][1000 genomes]
rs2501940	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2501942	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3739729	0.82[ASN][1000 genomes]
rs4372070	0.81[ASN][1000 genomes]
rs4745541	0.81[ASN][1000 genomes]
rs4745544	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4745545	0.86[ASN][1000 genomes]
rs4745546	0.86[ASN][1000 genomes]
rs6560519	0.81[EUR][1000 genomes]
rs7847608	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78984600-78993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:78986600-79008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:78986800-78990600	Enhancers	Liver	Liver
4	chr9:78986800-78990800	Enhancers	Fetal Intestine Large	intestine
5	chr9:78986800-78990800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:78986800-78991000	Enhancers	Fetal Stomach	stomach
7	chr9:78987000-78990600	Enhancers	Colon Smooth Muscle	Colon
8	chr9:78987000-78990600	Enhancers	Fetal Intestine Small	intestine
9	chr9:78987000-78990600	Enhancers	HepG2	liver
10	chr9:78987000-78991000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:78987200-78991200	Enhancers	Stomach Mucosa	stomach
12	chr9:78987600-79007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:78988200-78993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:78988200-79002600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:78988200-79003200	Weak transcription	HSMMtube	muscle
16	chr9:78988200-79008400	Weak transcription	Brain Substantia Nigra	brain
17	chr9:78988200-79008400	Weak transcription	Fetal Heart	heart
18	chr9:78988400-78999000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:78988400-78999000	Weak transcription	Spleen	Spleen
20	chr9:78988400-78999600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:78988400-79002200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:78988600-78994200	Weak transcription	HMEC	breast
23	chr9:78988600-79001000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:78988600-79001000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:78988600-79002400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:78988600-79007800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:78988600-79008200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:78988800-78999800	Weak transcription	Brain Anterior Caudate	brain
29	chr9:78988800-79006000	Weak transcription	Brain Angular Gyrus	brain
30	chr9:78988800-79007200	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:78988800-79008400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:78989000-78998200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:78989000-78999800	Weak transcription	GM12878-XiMat	blood
34	chr9:78989000-79000000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:78989000-79000200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:78989200-78990600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:78989200-78990800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:78989200-78997800	Weak transcription	Ovary	ovary
39	chr9:78989400-78990600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr9:78989400-78990600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:78989400-78990600	Enhancers	Rectal Smooth Muscle	rectum
42	chr9:78989400-78990600	Enhancers	NH-A	brain
43	chr9:78989600-78990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:78989600-78990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:78989600-78990600	Flanking Active TSS	Hela-S3	cervix
46	chr9:78989600-78990600	Enhancers	K562	blood
47	chr9:78989600-78990800	Enhancers	NHLF	lung
48	chr9:78989600-78991800	Enhancers	HUVEC	blood vessel
49	chr9:78989800-78990600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr9:78989800-78990600	Enhancers	Monocytes-CD14+_RO01746	blood

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