Variant report

Variant	rs12346245
Chromosome Location	chr9:97439417-97439418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10081702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10117499	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10117956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10118261	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10119354	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10119797	0.93[AFR][1000 genomes]
rs10124091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10124217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993307	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10993320	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12115845	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12336203	0.88[EUR][1000 genomes]
rs12339221	0.86[EUR][1000 genomes]
rs12339300	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12339942	0.83[EUR][1000 genomes]
rs12344517	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12344604	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12344661	0.93[AFR][1000 genomes]
rs12347853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12350284	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685159	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs13287373	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13295608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13298361	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1571144	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16911536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16911594	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34000226	0.86[EUR][1000 genomes]
rs34089610	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34165368	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34198898	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34540802	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34705993	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35060589	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35121098	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35414853	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35557606	0.86[EUR][1000 genomes]
rs35823631	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35840707	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35984007	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36025648	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36039841	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41281164	0.85[EUR][1000 genomes]
rs55718833	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56268713	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56338410	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60605105	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61247576	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61388738	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6479563	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67161795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67845333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032765	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7041122	0.86[YRI][hapmap]
rs72747008	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7850175	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7859242	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7871632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7874823	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9696054	0.84[EUR][1000 genomes]
rs9696547	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv893597	chr9:97380597-97463435	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97431800-97441000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:97432200-97449800	Weak transcription	Right Atrium	heart
3	chr9:97436800-97440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:97437000-97441200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:97437600-97440600	Weak transcription	Aorta	Aorta
6	chr9:97437800-97441800	Weak transcription	A549	lung
7	chr9:97438000-97444000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:97438400-97440800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:97438600-97440800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:97438800-97440200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:97438800-97443400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:97438800-97444000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:97438800-97449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:97439000-97440600	Weak transcription	Adipose Nuclei	Adipose
15	chr9:97439000-97443400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:97439000-97443400	Weak transcription	Ovary	ovary
17	chr9:97439000-97443800	Weak transcription	NHDF-Ad	bronchial
18	chr9:97439000-97444000	Weak transcription	Osteobl	bone
19	chr9:97439200-97441400	Enhancers	Fetal Muscle Leg	muscle
20	chr9:97439400-97439600	Enhancers	Fetal Lung	lung
21	chr9:97439400-97439600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr9:97439400-97441400	Enhancers	Fetal Stomach	stomach

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