Variant report

Variant	rs1983811
Chromosome Location	chr9:21553004-21553005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10118880	0.81[EUR][1000 genomes]
rs10738594	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10757225	0.87[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10965064	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1545749	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1983810	0.85[EUR][1000 genomes]
rs4141712	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141713	0.84[EUR][1000 genomes]
rs9298816	0.84[EUR][1000 genomes]
rs9657572	0.90[EUR][1000 genomes]
rs9657607	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996442	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
2	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21545600-21555600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:21546400-21553600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:21547000-21553400	Transcr. at gene 5' and 3'	HMEC	breast
4	chr9:21548400-21553800	Enhancers	Stomach Mucosa	stomach
5	chr9:21548400-21553800	Transcr. at gene 5' and 3'	NHEK	skin
6	chr9:21548400-21558200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:21549400-21553800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:21550000-21553600	Transcr. at gene 5' and 3'	A549	lung
9	chr9:21550600-21554200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:21550800-21554200	Enhancers	Fetal Intestine Large	intestine
11	chr9:21551000-21553200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr9:21551000-21553200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:21551400-21553400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:21551600-21553200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:21551800-21553600	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:21551800-21554800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:21552200-21553400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:21552600-21554400	Genic enhancers	Osteobl	bone
19	chr9:21552600-21558600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:21552800-21553200	Enhancers	Duodenum Mucosa	Duodenum
21	chr9:21552800-21553400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:21552800-21553800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:21552800-21553800	Transcr. at gene 5' and 3'	NH-A	brain
24	chr9:21552800-21554800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:21552800-21555000	Weak transcription	NHLF	lung
26	chr9:21552800-21555200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr9:21552800-21555200	Weak transcription	Fetal Intestine Small	intestine
28	chr9:21552800-21555800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:21552800-21556000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:21553000-21553200	Flanking Active TSS	HUVEC	blood vessel
31	chr9:21553000-21553400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:21553000-21553600	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr9:21553000-21553600	Enhancers	Hela-S3	cervix
34	chr9:21553000-21554600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:21553000-21555600	Weak transcription	NHDF-Ad	bronchial
36	chr9:21553000-21555800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:21553000-21556000	Weak transcription	HSMM	muscle
38	chr9:21553000-21558600	Weak transcription	H9 Cell Line	embryonic stem cell

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