Variant report

Variant	rs12683586
Chromosome Location	chr9:115773918-115773919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10513176	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981596	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13290234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35112778	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286441	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60338828	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575129	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575132	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021392	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71503552	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv466490	chr9:115716155-115783589	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv615201	chr9:115716155-115783589	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv430092	chr9:115716215-115790227	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1052547	chr9:115717108-115787041	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1035654	chr9:115717108-115789896	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3379667	chr9:115743721-115782404	ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv615203	chr9:115745205-115775168	ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv466491	chr9:115745205-115814473	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv831691	chr9:115754699-115929459	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1048246	chr9:115759281-115821188	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv540198	chr9:115759281-115821188	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
15	nsv1039564	chr9:115769553-115821327	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	nsv540199	chr9:115769553-115821327	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	nsv1042280	chr9:115769753-115821188	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
18	nsv540200	chr9:115769753-115821188	ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115762400-115774000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:115762800-115774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:115771600-115774000	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:115771800-115774000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:115771800-115774000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:115771800-115774000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:115772000-115774000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:115772400-115774000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:115772600-115774000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:115773400-115774000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:115773400-115775000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr9:115773400-115775200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr9:115773600-115774000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr9:115773600-115774200	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr9:115773600-115774200	Active TSS	Fetal Heart	heart
16	chr9:115773600-115774600	ZNF genes & repeats	Liver	Liver
17	chr9:115773600-115774800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr9:115773600-115774800	Active TSS	Brain Cingulate Gyrus	brain
19	chr9:115773600-115774800	Active TSS	K562	blood
20	chr9:115773600-115775200	Active TSS	Brain Anterior Caudate	brain
21	chr9:115773600-115775200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:115773600-115775200	Active TSS	Brain Substantia Nigra	brain
23	chr9:115773600-115775200	Active TSS	Fetal Brain Female	brain
24	chr9:115773600-115775200	Active TSS	Fetal Lung	lung
25	chr9:115773800-115774000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:115773800-115774000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:115773800-115774000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr9:115773800-115774000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:115773800-115774000	Enhancers	Fetal Intestine Small	intestine
30	chr9:115773800-115774000	Enhancers	Fetal Muscle Trunk	muscle
31	chr9:115773800-115774000	Enhancers	Fetal Stomach	stomach
32	chr9:115773800-115774000	Enhancers	Pancreas	Pancrea
33	chr9:115773800-115774000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr9:115773800-115774200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr9:115773800-115774200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr9:115773800-115774200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr9:115773800-115774200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr9:115773800-115774200	Flanking Active TSS	Fetal Brain Male	brain
39	chr9:115773800-115774200	Bivalent/Poised TSS	A549	lung
40	chr9:115773800-115774200	Flanking Active TSS	HepG2	liver
41	chr9:115773800-115774400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr9:115773800-115774400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:115773800-115774400	ZNF genes & repeats	Gastric	stomach
44	chr9:115773800-115774600	Active TSS	NHLF	lung
45	chr9:115773800-115774800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr9:115773800-115774800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr9:115773800-115774800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:115773800-115774800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:115773800-115774800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:115773800-115774800	Active TSS	Primary T cells from cord blood	blood

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