Variant report

Variant	rs1329021
Chromosome Location	chr9:108221260-108221261
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108219652..108221418-chr9:108230487..108232069,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1018848	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1018849	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10820805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820806	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10820807	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10820808	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10820816	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991664	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10991666	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10991669	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10991675	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10991680	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10991686	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10991688	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11525961	0.80[AMR][1000 genomes]
rs11535511	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12235779	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12555267	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1327351	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1329022	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576285	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16924672	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16924676	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1858744	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1928293	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1928294	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2068266	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518110	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518111	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2518113	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2518117	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2518118	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2518119	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2518122	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2518127	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2768278	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2768284	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2768285	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2768286	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2768287	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2768288	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2768293	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2768295	0.81[AMR][1000 genomes]
rs2768296	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2904847	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4302902	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56134629	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72744254	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72744266	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72744269	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs885955	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][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	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
5	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108211000-108248000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:108211400-108222000	Weak transcription	Stomach Mucosa	stomach
3	chr9:108211800-108227000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:108212200-108234800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:108212800-108226600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:108214400-108227200	Weak transcription	Fetal Kidney	kidney
7	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
8	chr9:108219000-108221600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:108219200-108221400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:108219600-108221400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr9:108220000-108221400	Enhancers	Right Ventricle	heart
12	chr9:108220200-108221400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:108220200-108221800	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr9:108220200-108243400	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:108220400-108222400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:108220400-108222600	Enhancers	HepG2	liver
17	chr9:108220400-108227600	Weak transcription	Liver	Liver
18	chr9:108220400-108237400	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:108220400-108252600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:108220600-108221800	Weak transcription	Psoas Muscle	Psoas
21	chr9:108220600-108226600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:108220600-108227000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:108220600-108227600	Weak transcription	HMEC	breast
24	chr9:108220600-108231000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:108220600-108237000	Weak transcription	Pancreas	Pancrea
26	chr9:108220600-108237400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:108220800-108221400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:108220800-108221800	Weak transcription	Right Atrium	heart
29	chr9:108220800-108222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:108220800-108225800	Weak transcription	A549	lung
31	chr9:108220800-108226600	Weak transcription	Hela-S3	cervix
32	chr9:108220800-108227000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:108220800-108229200	Weak transcription	NHLF	lung
34	chr9:108220800-108237000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:108220800-108237600	Weak transcription	Aorta	Aorta
36	chr9:108221000-108221400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:108221000-108221400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:108221000-108221400	Weak transcription	Fetal Intestine Large	intestine
39	chr9:108221000-108221400	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr9:108221000-108221600	Weak transcription	Brain Anterior Caudate	brain
41	chr9:108221000-108221600	Weak transcription	Ovary	ovary
42	chr9:108221000-108221800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr9:108221000-108221800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:108221000-108221800	Enhancers	Small Intestine	intestine
45	chr9:108221000-108222400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:108221000-108223200	Enhancers	K562	blood
47	chr9:108221000-108226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:108221000-108226600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:108221000-108226600	Weak transcription	NHDF-Ad	bronchial
50	chr9:108221000-108226800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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