Variant report

Variant	rs56343038
Chromosome Location	chr9:16776792-16776793
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10756811	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10756812	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10810616	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10810619	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10810628	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10810629	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10962570	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10962572	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10962573	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10962582	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10962585	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10962590	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11793056	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11793537	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11795031	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12343424	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12344347	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12344799	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12353453	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13294647	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1330299	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4623533	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs944207	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16754000-16787000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:16755800-16778400	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:16762600-16786800	Weak transcription	NHLF	lung
4	chr9:16767200-16778200	Weak transcription	NHDF-Ad	bronchial
5	chr9:16767600-16795400	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:16768000-16795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:16769400-16782600	Weak transcription	Fetal Kidney	kidney
8	chr9:16769400-16784800	Weak transcription	Fetal Intestine Large	intestine
9	chr9:16769800-16784000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:16769800-16787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:16769800-16795400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:16770000-16786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:16771000-16778600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:16771600-16784000	Weak transcription	HSMM	muscle
15	chr9:16772400-16784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:16773000-16795000	Weak transcription	HSMMtube	muscle
17	chr9:16773800-16785000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:16774000-16784200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:16774200-16783000	Weak transcription	Fetal Lung	lung
20	chr9:16774200-16787400	Weak transcription	NH-A	brain
21	chr9:16774600-16784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:16775600-16784400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:16775800-16778000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:16775800-16784600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:16776000-16778600	Weak transcription	Ovary	ovary
26	chr9:16776000-16782400	Weak transcription	Fetal Intestine Small	intestine
27	chr9:16776000-16786600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:16776000-16787600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:16776200-16778200	Weak transcription	Fetal Stomach	stomach
30	chr9:16776200-16784400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:16776200-16787400	Weak transcription	Osteobl	bone
32	chr9:16776400-16777600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:16776400-16781200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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