Variant report

Variant	rs10982578
Chromosome Location	chr9:117921658-117921659
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10120799	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10122188	0.86[EUR][1000 genomes]
rs10124924	0.86[EUR][1000 genomes]
rs10125919	0.86[EUR][1000 genomes]
rs10125923	0.86[EUR][1000 genomes]
rs10125938	0.86[EUR][1000 genomes]
rs10465110	0.84[EUR][1000 genomes]
rs10465131	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10817717	0.84[EUR][1000 genomes]
rs10817719	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10817720	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10817724	0.96[AFR][1000 genomes]
rs10817726	0.92[AFR][1000 genomes]
rs10982573	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982574	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982575	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982580	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10982581	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982582	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982583	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10982584	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982585	0.91[EUR][1000 genomes]
rs10982586	0.88[EUR][1000 genomes]
rs10982587	0.81[EUR][1000 genomes]
rs10982588	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10982589	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982590	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982591	0.88[EUR][1000 genomes]
rs10982596	0.84[EUR][1000 genomes]
rs10982597	0.84[EUR][1000 genomes]
rs10982600	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10982623	1.00[ASN][1000 genomes]
rs12115360	0.84[EUR][1000 genomes]
rs12115362	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12338815	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12338911	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12339665	0.96[AFR][1000 genomes]
rs12346640	0.86[EUR][1000 genomes]
rs12347993	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12348952	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12350544	0.96[AFR][1000 genomes]
rs12380804	1.00[ASN][1000 genomes]
rs13289510	0.86[EUR][1000 genomes]
rs13296278	1.00[ASN][1000 genomes]
rs1335334	0.81[AFR][1000 genomes]
rs16932349	0.96[AFR][1000 genomes]
rs17246222	1.00[ASN][1000 genomes]
rs28681459	1.00[ASN][1000 genomes]
rs34459511	0.96[AFR][1000 genomes]
rs35263530	0.96[AFR][1000 genomes]
rs4607691	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60715510	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6478138	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6478139	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6478140	0.88[EUR][1000 genomes]
rs6478141	0.88[EUR][1000 genomes]
rs6478142	0.88[EUR][1000 genomes]
rs6478143	0.81[EUR][1000 genomes]
rs7027235	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7027851	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7031730	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7031771	0.84[EUR][1000 genomes]
rs71505533	0.96[AFR][1000 genomes]
rs7357687	0.92[AFR][1000 genomes]
rs7847093	0.88[EUR][1000 genomes]
rs7851019	0.88[EUR][1000 genomes]
rs7851086	0.88[EUR][1000 genomes]
rs7851110	0.88[EUR][1000 genomes]
rs7851481	0.88[EUR][1000 genomes]
rs7862558	0.88[EUR][1000 genomes]
rs7866441	0.81[EUR][1000 genomes]
rs955387	1.00[ASN][1000 genomes]
rs9886855	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117918600-117921800	Enhancers	Colon Smooth Muscle	Colon
2	chr9:117918800-117921800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:117918800-117922000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr9:117919800-117922000	Enhancers	NHDF-Ad	bronchial
5	chr9:117920200-117923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:117920400-117921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:117920400-117923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:117920400-117923000	Weak transcription	Fetal Intestine Small	intestine
9	chr9:117920400-117925800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:117920400-117925800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:117920600-117926400	Weak transcription	NHEK	skin
12	chr9:117921000-117922000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:117921000-117922000	Enhancers	Fetal Heart	heart
14	chr9:117921200-117921800	Enhancers	Fetal Muscle Leg	muscle
15	chr9:117921200-117922000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:117921400-117921800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:117921400-117921800	Enhancers	Rectal Smooth Muscle	rectum
18	chr9:117921400-117922000	Enhancers	Stomach Smooth Muscle	stomach
19	chr9:117921400-117926600	Weak transcription	HSMMtube	muscle
20	chr9:117921600-117923800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:117921600-117925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:117921600-117925800	Weak transcription	NHLF	lung
23	chr9:117921600-117926400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:117921600-117926600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:117921600-117926800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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