Variant report

Variant	rs999310
Chromosome Location	chr1:168696614-168696615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11577775	1.00[ASN][1000 genomes]
rs12065661	0.88[ASN][1000 genomes]
rs12401569	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12401592	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403860	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12410077	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12411200	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35915405	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56168358	1.00[EUR][1000 genomes]
rs57187559	1.00[EUR][1000 genomes]
rs58493284	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58987681	1.00[EUR][1000 genomes]
rs60429525	1.00[EUR][1000 genomes]
rs73032003	1.00[EUR][1000 genomes]
rs73042054	1.00[EUR][1000 genomes]
rs74121379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74121380	1.00[EUR][1000 genomes]
rs74122718	1.00[EUR][1000 genomes]
rs74122750	1.00[EUR][1000 genomes]
rs74122754	1.00[EUR][1000 genomes]
rs74122773	1.00[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168689000-168697000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:168692600-168697000	Weak transcription	Pancreas	Pancrea
3	chr1:168692600-168698200	Weak transcription	Psoas Muscle	Psoas
4	chr1:168694000-168698600	Active TSS	Rectal Smooth Muscle	rectum
5	chr1:168694600-168697000	Enhancers	Fetal Stomach	stomach
6	chr1:168694600-168698800	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:168694800-168699000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:168695000-168698800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:168695600-168698400	Active TSS	Colon Smooth Muscle	Colon
10	chr1:168695600-168698400	Active TSS	Right Ventricle	heart
11	chr1:168695800-168697200	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr1:168695800-168698200	Active TSS	Right Atrium	heart
13	chr1:168696000-168697200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:168696000-168698000	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:168696000-168701000	Weak transcription	Fetal Heart	heart
16	chr1:168696200-168697800	Weak transcription	Placenta	Placenta
17	chr1:168696200-168698400	Active TSS	Fetal Intestine Small	intestine
18	chr1:168696200-168698400	Weak transcription	Fetal Lung	lung
19	chr1:168696200-168698400	Active TSS	Left Ventricle	heart
20	chr1:168696400-168696800	Active TSS	Fetal Muscle Trunk	muscle
21	chr1:168696400-168697000	Enhancers	Fetal Muscle Leg	muscle
22	chr1:168696400-168697200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:168696400-168697600	Weak transcription	Ovary	ovary
24	chr1:168696400-168697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:168696400-168698000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:168696600-168696800	Flanking Active TSS	Adipose Nuclei	Adipose

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