Variant report

Variant	rs12338815
Chromosome Location	chr9:117919820-117919821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10120799	0.90[EUR][1000 genomes]
rs10122188	0.90[EUR][1000 genomes]
rs10124924	0.90[EUR][1000 genomes]
rs10125919	0.90[EUR][1000 genomes]
rs10125923	0.90[EUR][1000 genomes]
rs10125938	0.90[EUR][1000 genomes]
rs10465110	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10465131	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817717	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10817719	0.90[EUR][1000 genomes]
rs10817720	0.90[EUR][1000 genomes]
rs10982548	0.98[ASN][1000 genomes]
rs10982549	1.00[ASN][1000 genomes]
rs10982551	0.98[ASN][1000 genomes]
rs10982560	1.00[ASN][1000 genomes]
rs10982561	0.81[ASN][1000 genomes]
rs10982562	0.83[ASN][1000 genomes]
rs10982563	1.00[ASN][1000 genomes]
rs10982564	1.00[ASN][1000 genomes]
rs10982565	1.00[ASN][1000 genomes]
rs10982566	1.00[ASN][1000 genomes]
rs10982568	1.00[ASN][1000 genomes]
rs10982569	1.00[ASN][1000 genomes]
rs10982570	1.00[ASN][1000 genomes]
rs10982571	1.00[ASN][1000 genomes]
rs10982573	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982574	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982578	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10982580	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982581	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982582	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982583	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10982584	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982585	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982586	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982587	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10982588	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982589	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10982590	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10982591	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982592	0.82[EUR][1000 genomes]
rs10982596	0.87[EUR][1000 genomes]
rs10982597	0.87[EUR][1000 genomes]
rs12115360	0.87[EUR][1000 genomes]
rs12115362	0.90[EUR][1000 genomes]
rs12237691	0.98[ASN][1000 genomes]
rs12338911	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348952	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13289510	0.90[EUR][1000 genomes]
rs16932289	1.00[ASN][1000 genomes]
rs4607691	0.90[EUR][1000 genomes]
rs56791225	0.98[ASN][1000 genomes]
rs59205962	0.95[ASN][1000 genomes]
rs60003319	0.95[ASN][1000 genomes]
rs60715510	0.88[EUR][1000 genomes]
rs60760004	0.98[ASN][1000 genomes]
rs6478136	1.00[ASN][1000 genomes]
rs6478138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478139	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478140	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478141	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478142	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478143	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6478144	1.00[ASN][1000 genomes]
rs7027235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027851	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7030384	0.82[EUR][1000 genomes]
rs7031730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031771	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7048739	0.82[EUR][1000 genomes]
rs7847093	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851019	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851086	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851110	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851481	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859387	1.00[ASN][1000 genomes]
rs7862558	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864609	0.95[ASN][1000 genomes]
rs7866441	0.84[AMR][1000 genomes];0.89[EUR][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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117916800-117920400	Enhancers	Rectal Smooth Muscle	rectum
2	chr9:117917800-117921200	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:117917800-117921600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:117918600-117921800	Enhancers	Colon Smooth Muscle	Colon
5	chr9:117918800-117920200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:117918800-117920400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:117918800-117920400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:117918800-117920400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:117918800-117920400	Enhancers	HSMM	muscle
10	chr9:117918800-117920600	Enhancers	HMEC	breast
11	chr9:117918800-117921600	Enhancers	NHLF	lung
12	chr9:117918800-117921800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:117918800-117922000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr9:117919000-117921600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:117919200-117920200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr9:117919200-117920200	Enhancers	Stomach Smooth Muscle	stomach
17	chr9:117919200-117920400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:117919200-117920600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:117919400-117920400	Enhancers	Fetal Intestine Small	intestine
20	chr9:117919400-117920600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:117919400-117920600	Enhancers	Fetal Intestine Large	intestine
22	chr9:117919400-117921200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:117919800-117920200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:117919800-117920200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:117919800-117920400	Enhancers	NH-A	brain
26	chr9:117919800-117920600	Enhancers	A549	lung
27	chr9:117919800-117920600	Enhancers	NHEK	skin
28	chr9:117919800-117921600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:117919800-117921600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:117919800-117921600	Enhancers	Osteobl	bone
31	chr9:117919800-117922000	Enhancers	NHDF-Ad	bronchial

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