Variant report

Variant	rs2084289
Chromosome Location	chr9:94968214-94968215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10125510	0.88[EUR][1000 genomes]
rs1058726	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1058751	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733744	0.88[EUR][1000 genomes]
rs10761159	0.88[EUR][1000 genomes]
rs1144933	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152760	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152761	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152762	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1175737	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1175923	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1175929	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1175930	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1175931	0.81[EUR][1000 genomes]
rs11787696	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11788610	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11789578	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11790257	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11791931	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11792542	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793505	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794966	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12555097	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2295939	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2398749	0.83[EUR][1000 genomes]
rs2761680	0.88[EUR][1000 genomes]
rs3894058	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41280213	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280215	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472163	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743862	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4743864	0.85[ASN][1000 genomes]
rs4743866	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4743867	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743868	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743871	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744123	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4744124	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744125	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501814	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs556155	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs557066	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55894730	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56110031	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56308715	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56374228	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6479421	0.88[EUR][1000 genomes]
rs7042199	0.88[EUR][1000 genomes]
rs72748400	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72748402	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7864453	0.88[EUR][1000 genomes]
rs895639	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409464	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409465	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409466	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9409467	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409469	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409659	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409660	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409661	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409662	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9409663	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409665	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409666	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs944949	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94954400-94971000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:94959400-94969000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:94959400-94971200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:94959400-94973200	Weak transcription	Pancreas	Pancrea
5	chr9:94959600-94969800	Weak transcription	Osteobl	bone
6	chr9:94959600-94970800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:94960600-94970400	Weak transcription	Hela-S3	cervix
8	chr9:94966000-94973400	Weak transcription	Esophagus	oesophagus
9	chr9:94966600-94971200	Weak transcription	Fetal Intestine Large	intestine
10	chr9:94966800-94970800	Weak transcription	Adipose Nuclei	Adipose
11	chr9:94967000-94971000	Weak transcription	HSMM	muscle
12	chr9:94967200-94968800	Weak transcription	A549	lung
13	chr9:94967200-94969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:94967200-94969800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:94967200-94970000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:94967200-94970800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr9:94967200-94970800	Weak transcription	HSMMtube	muscle
18	chr9:94967400-94970200	Weak transcription	Left Ventricle	heart
19	chr9:94967400-94970400	Weak transcription	Primary T cells from cord blood	blood
20	chr9:94967400-94971000	Weak transcription	Brain Anterior Caudate	brain
21	chr9:94967400-94971000	Weak transcription	Fetal Brain Female	brain
22	chr9:94967600-94971000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:94967600-94971000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:94967600-94971400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:94967800-94969600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:94967800-94969600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:94967800-94970800	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:94967800-94970800	Weak transcription	Psoas Muscle	Psoas
29	chr9:94967800-94971200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:94968000-94970400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:94968000-94970800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr9:94968000-94970800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:94968200-94969800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:94968200-94970400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:94968200-94970600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:94968200-94970600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:94968200-94970600	Weak transcription	HMEC	breast
38	chr9:94968200-94970800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:94968200-94971000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:94968200-94971000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:94968200-94971000	Weak transcription	Brain Inferior Temporal Lobe	brain

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