Variant report

Variant	rs4593639
Chromosome Location	chr9:21889401-21889402
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10117550	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10118406	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1134871	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11531716	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1418072	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2027484	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3928893	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4607704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4977737	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4977738	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4977739	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6475592	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7028211	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21859000-21892000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr9:21865000-21890200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:21865400-21892600	Weak transcription	Colonic Mucosa	Colon
4	chr9:21865600-21890000	Weak transcription	Placenta	Placenta
5	chr9:21865800-21889600	Weak transcription	Ovary	ovary
6	chr9:21866000-21890200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:21869400-21889600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:21869600-21890000	Weak transcription	Thymus	Thymus
9	chr9:21870200-21889600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:21873000-21893000	Weak transcription	NHDF-Ad	bronchial
11	chr9:21874200-21890200	Weak transcription	Osteobl	bone
12	chr9:21874400-21889600	Weak transcription	NHEK	skin
13	chr9:21874400-21893800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:21880200-21890600	Weak transcription	HUVEC	blood vessel
15	chr9:21880400-21890200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:21880400-21890200	Weak transcription	Gastric	stomach
17	chr9:21880400-21890800	Weak transcription	NH-A	brain
18	chr9:21880400-21892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:21880400-21901400	Weak transcription	HSMMtube	muscle
20	chr9:21880600-21889600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:21881000-21889800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr9:21881000-21890200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:21881200-21890000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:21881400-21890200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:21881400-21893200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr9:21881800-21890800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:21883600-21890200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:21884000-21889600	Weak transcription	Aorta	Aorta
29	chr9:21884000-21889600	Weak transcription	Pancreas	Pancrea
30	chr9:21884000-21890200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:21884200-21890800	Weak transcription	Right Ventricle	heart
32	chr9:21885000-21890200	Weak transcription	HSMM	muscle
33	chr9:21885400-21892200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:21886200-21891000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:21886800-21890200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr9:21887000-21889600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:21887000-21890000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:21887000-21890200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:21887000-21890200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:21887000-21891000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr9:21887200-21890000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr9:21887200-21890200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:21887200-21890800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:21887200-21892800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr9:21887200-21919000	Weak transcription	Hela-S3	cervix
46	chr9:21887400-21889600	Weak transcription	Left Ventricle	heart
47	chr9:21887800-21892000	Weak transcription	Psoas Muscle	Psoas
48	chr9:21888000-21889600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:21888200-21889800	Weak transcription	Adipose Nuclei	Adipose
50	chr9:21888200-21890000	Weak transcription	Primary T cells fromperipheralblood	blood

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