Variant report

Variant	rs423983
Chromosome Location	chr15:40138384-40138385
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]
rs11636194	1.00[AMR][1000 genomes]
rs166704	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16952166	1.00[AMR][1000 genomes]
rs16969567	1.00[AMR][1000 genomes]
rs16969594	1.00[AMR][1000 genomes]
rs16969623	1.00[AMR][1000 genomes]
rs16969673	1.00[AMR][1000 genomes]
rs16969697	1.00[AMR][1000 genomes]
rs16969698	1.00[AMR][1000 genomes]
rs16969766	1.00[AMR][1000 genomes]
rs16969787	1.00[AMR][1000 genomes]
rs16969794	1.00[AMR][1000 genomes]
rs16969798	1.00[AMR][1000 genomes]
rs16969817	1.00[AMR][1000 genomes]
rs175728	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2631699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2640643	1.00[AMR][1000 genomes]
rs275722	1.00[AMR][1000 genomes]
rs275735	1.00[AMR][1000 genomes]
rs275740	1.00[AMR][1000 genomes]
rs275741	1.00[AMR][1000 genomes]
rs275743	1.00[AMR][1000 genomes]
rs275745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56932964	1.00[AMR][1000 genomes]
rs573879	1.00[AMR][1000 genomes]
rs584244	1.00[AMR][1000 genomes]
rs60403575	1.00[AMR][1000 genomes]
rs60701446	1.00[AMR][1000 genomes]
rs649015	1.00[AMR][1000 genomes]
rs650424	1.00[AMR][1000 genomes]
rs684438	1.00[AMR][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40123400-40143200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr15:40123600-40162400	Weak transcription	Aorta	Aorta
3	chr15:40123800-40143600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:40126400-40142600	Weak transcription	NHLF	lung
5	chr15:40127200-40142600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:40133400-40142400	Weak transcription	HSMM	muscle
7	chr15:40135200-40142800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:40135400-40139400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:40135600-40139200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:40136800-40138400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:40137000-40138600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:40137000-40138800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:40137200-40138600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:40137800-40138600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr15:40138000-40138600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr15:40138000-40138800	Enhancers	Osteobl	bone
17	chr15:40138200-40138400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:40138200-40138600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:40138200-40138800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:40138200-40138800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:40138200-40138800	Enhancers	Muscle Satellite Cultured Cells	--

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