Variant report

Variant	rs2441998
Chromosome Location	chr9:17475119-17475120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10732337	0.83[ASN][1000 genomes]
rs12000328	0.85[EUR][1000 genomes]
rs12002590	0.90[EUR][1000 genomes]
rs1442532	0.98[ASN][1000 genomes]
rs16935681	0.98[ASN][1000 genomes]
rs17764545	0.90[EUR][1000 genomes]
rs17831889	0.90[EUR][1000 genomes]
rs1867076	0.98[ASN][1000 genomes]
rs1867077	0.98[ASN][1000 genomes]
rs2442000	0.83[ASN][1000 genomes]
rs2442004	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2499046	0.98[ASN][1000 genomes]
rs2499047	0.98[ASN][1000 genomes]
rs2593398	0.98[ASN][1000 genomes]
rs4961566	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6475148	0.98[ASN][1000 genomes]
rs7023206	1.00[ASN][1000 genomes]
rs73416461	0.93[ASN][1000 genomes]
rs7467106	0.88[ASN][1000 genomes]
rs7851369	0.98[ASN][1000 genomes]
rs7864836	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv471287	chr9:17165698-17708814	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv466269	chr9:17165698-17710407	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv892668	chr9:17371690-17532840	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv892670	chr9:17378776-17507277	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv892671	chr9:17378776-17610211	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	esv2422265	chr9:17396711-17598187	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv613698	chr9:17457854-17488111	Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv613699	chr9:17470126-17490559	Strong transcription Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17411800-17481000	Weak transcription	Aorta	Aorta
2	chr9:17440400-17494600	Weak transcription	Left Ventricle	heart
3	chr9:17442000-17491800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:17448000-17503400	Weak transcription	Ovary	ovary
5	chr9:17448400-17496400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:17448600-17495800	Weak transcription	Dnd41	blood
7	chr9:17452800-17495600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:17453000-17497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:17453800-17504200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:17454000-17491800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:17455600-17503000	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:17457200-17477200	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:17458800-17500400	Weak transcription	HUVEC	blood vessel
14	chr9:17460600-17496200	Weak transcription	HSMM	muscle
15	chr9:17465000-17487400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr9:17467200-17487600	Weak transcription	NHDF-Ad	bronchial
17	chr9:17468000-17485600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:17468200-17487000	Weak transcription	Adipose Nuclei	Adipose
19	chr9:17468200-17487400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:17468200-17497200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:17468200-17500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:17468200-17500200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr9:17470200-17476400	Weak transcription	Liver	Liver
24	chr9:17470400-17485000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:17473000-17478600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:17473600-17476000	Weak transcription	Fetal Lung	lung
27	chr9:17475000-17475200	Active TSS	Fetal Heart	heart

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