Variant report

Variant	rs73338483
Chromosome Location	chr10:52841668-52841669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10218858	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10995547	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12573698	0.96[EUR][1000 genomes]
rs16913603	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16913709	0.96[EUR][1000 genomes]
rs2339676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2339677	0.96[EUR][1000 genomes]
rs2879546	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4542348	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5011544	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58268608	0.96[EUR][1000 genomes]
rs58296033	1.00[EUR][1000 genomes]
rs59098547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322648	0.83[ASN][1000 genomes]
rs73322650	0.83[ASN][1000 genomes]
rs73322654	1.00[ASN][1000 genomes]
rs73322683	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323803	1.00[EUR][1000 genomes]
rs73338488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338492	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338494	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73338502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73340468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73340469	1.00[EUR][1000 genomes]
rs73340484	1.00[EUR][1000 genomes]
rs7476372	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7476747	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9414804	0.85[EUR][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	nsv831873	chr10:52710610-52899540	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv895394	chr10:52793177-52866503	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1036645	chr10:52804961-53159076	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr10:52834800-52842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:52835600-52842400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:52836200-52842800	Weak transcription	Psoas Muscle	Psoas
4	chr10:52836400-52847400	Weak transcription	Right Ventricle	heart
5	chr10:52837200-52843000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr10:52837200-52849600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:52837600-52842800	Weak transcription	NHDF-Ad	bronchial
8	chr10:52838200-52842800	Weak transcription	Left Ventricle	heart
9	chr10:52839000-52844000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:52839200-52841800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:52839600-52843000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:52840000-52843200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:52840200-52842800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:52840400-52842800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:52840400-52842800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr10:52840400-52852200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:52840600-52842400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:52840600-52842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:52840600-52842600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:52840600-52842600	Weak transcription	Colon Smooth Muscle	Colon
21	chr10:52840600-52842600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr10:52840600-52842600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr10:52840600-52842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:52840600-52842800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:52840600-52842800	Weak transcription	Fetal Muscle Leg	muscle
26	chr10:52840600-52843000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:52840600-52843400	Weak transcription	Fetal Kidney	kidney
28	chr10:52840600-52843400	Weak transcription	Fetal Lung	lung
29	chr10:52841000-52842000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr10:52841000-52842800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:52841200-52842800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr10:52841200-52842800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr10:52841400-52841800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:52841400-52843000	Weak transcription	Aorta	Aorta
35	chr10:52841600-52842000	Strong transcription	Fetal Stomach	stomach
36	chr10:52841600-52842600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr10:52841600-52842600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr10:52841600-52842800	Weak transcription	NHLF	lung

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