Variant report

Variant	rs55864279
Chromosome Location	chr9:94627108-94627109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94626467..94629171-chr9:94633400..94634901,2	K562	blood:
2	chr9:94619022..94622671-chr9:94625624..94629747,5	K562	blood:
3	chr9:94626758..94629803-chr9:94629808..94631771,3	K562	blood:
4	chr9:94626760..94629171-chr9:94633039..94635717,3	K562	blood:
5	chr9:94621154..94622760-chr9:94625624..94628222,3	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10820907	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820908	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10820914	0.82[AMR][1000 genomes]
rs10992123	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992124	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10992128	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992129	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10992130	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992131	0.81[EUR][1000 genomes]
rs10992132	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992135	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10992137	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992139	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992140	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10992142	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10992143	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992149	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10992151	0.82[AMR][1000 genomes]
rs11789973	0.82[AMR][1000 genomes]
rs11790144	0.83[AMR][1000 genomes]
rs12552292	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12552858	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12555334	0.80[EUR][1000 genomes]
rs12683797	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1534531	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16907887	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1881387	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1881392	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2030991	0.80[EUR][1000 genomes]
rs2841691	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4517189	0.82[AMR][1000 genomes]
rs4639579	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4744108	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744109	0.91[EUR][1000 genomes]
rs4744110	0.91[EUR][1000 genomes]
rs4744113	0.84[EUR][1000 genomes]
rs55663665	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56088447	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56308784	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58202197	0.80[EUR][1000 genomes]
rs58431919	0.82[AMR][1000 genomes]
rs59723153	0.82[AMR][1000 genomes]
rs62564597	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62564598	0.81[EUR][1000 genomes]
rs62564599	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62565674	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6479376	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67944481	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7019210	0.81[AMR][1000 genomes]
rs7031562	0.81[EUR][1000 genomes]
rs7033819	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7039406	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7048756	0.81[EUR][1000 genomes]
rs7850636	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7855417	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7863061	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7867707	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7870902	0.90[AMR][1000 genomes];0.91[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	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94621000-94627400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:94621400-94638000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:94623200-94629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:94623200-94634000	Weak transcription	Fetal Intestine Small	intestine
5	chr9:94626000-94628200	Enhancers	Fetal Stomach	stomach
6	chr9:94626000-94628400	Enhancers	Fetal Lung	lung
7	chr9:94626000-94628600	Enhancers	Colon Smooth Muscle	Colon
8	chr9:94626400-94627200	Enhancers	Brain Germinal Matrix	brain
9	chr9:94626400-94627200	Enhancers	Fetal Brain Male	brain
10	chr9:94626400-94627600	Enhancers	Ovary	ovary
11	chr9:94626400-94628000	Enhancers	Fetal Heart	heart
12	chr9:94626400-94628000	Enhancers	Rectal Smooth Muscle	rectum
13	chr9:94626400-94628400	Enhancers	Stomach Smooth Muscle	stomach
14	chr9:94626400-94628800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:94626600-94627200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:94626600-94627200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:94626600-94627600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:94626600-94627600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:94626600-94627600	Enhancers	Fetal Thymus	thymus
20	chr9:94626600-94630400	Enhancers	K562	blood
21	chr9:94626600-94636200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:94626800-94627400	Enhancers	Fetal Kidney	kidney
23	chr9:94626800-94627600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr9:94626800-94627800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:94626800-94627800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:94627000-94627400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:94627000-94632600	Weak transcription	Right Atrium	heart
28	chr9:94627000-94635000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:94627000-94650800	Weak transcription	Gastric	stomach

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