Variant report

Variant	rs12684533
Chromosome Location	chr9:94638962-94638963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94636703..94639887-chr9:94643001..94646217,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10761132	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10761133	0.81[EUR][1000 genomes]
rs10761134	0.81[EUR][1000 genomes]
rs10761135	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10820910	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992126	0.80[AMR][1000 genomes]
rs10992136	0.83[AMR][1000 genomes]
rs10992144	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10992145	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12378938	0.80[AMR][1000 genomes]
rs12555334	0.80[EUR][1000 genomes]
rs12684524	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1528363	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1528364	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1534530	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1534533	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881385	0.80[AMR][1000 genomes]
rs2030991	0.80[EUR][1000 genomes]
rs2312735	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4744111	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744112	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55956910	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58202197	0.80[EUR][1000 genomes]
rs62565675	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6479377	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7030661	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7045226	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7850118	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7864311	0.80[EUR][1000 genomes]
rs7865855	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7870049	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv530946	chr9:94633154-94715023	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94627000-94650800	Weak transcription	Gastric	stomach
2	chr9:94627200-94648600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:94627600-94647400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94630400-94641400	Weak transcription	K562	blood
5	chr9:94631200-94639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:94632800-94641000	Enhancers	Colon Smooth Muscle	Colon
7	chr9:94633000-94644600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:94636200-94641800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:94636400-94639800	Enhancers	Stomach Smooth Muscle	stomach
10	chr9:94636600-94639200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:94636600-94639200	Weak transcription	Right Atrium	heart
12	chr9:94636600-94639800	Weak transcription	Fetal Heart	heart
13	chr9:94636600-94642800	Weak transcription	Left Ventricle	heart
14	chr9:94636600-94646000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:94636600-94647200	Weak transcription	Fetal Intestine Large	intestine
16	chr9:94636800-94645400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:94637000-94640400	Weak transcription	Fetal Stomach	stomach
18	chr9:94637800-94639200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:94637800-94645000	Weak transcription	Fetal Intestine Small	intestine
20	chr9:94638000-94639000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:94638000-94643200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:94638200-94639400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:94638200-94639400	Weak transcription	Fetal Lung	lung
24	chr9:94638200-94642000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:94638200-94643000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:94638200-94643000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:94638200-94646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:94638400-94641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:94638400-94646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:94638800-94639200	Weak transcription	Ovary	ovary
31	chr9:94638800-94644200	Weak transcription	Placenta Amnion	Placenta Amnion

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