Variant report

Variant	rs60306829
Chromosome Location	chr1:168698426-168698427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10919012	1.00[EUR][1000 genomes]
rs12058057	1.00[EUR][1000 genomes]
rs12058379	1.00[EUR][1000 genomes]
rs12060178	1.00[EUR][1000 genomes]
rs12061744	1.00[EUR][1000 genomes]
rs12063868	1.00[EUR][1000 genomes]
rs12064456	1.00[EUR][1000 genomes]
rs12072744	1.00[EUR][1000 genomes]
rs12078028	1.00[EUR][1000 genomes]
rs12079471	1.00[EUR][1000 genomes]
rs12082826	1.00[EUR][1000 genomes]
rs2064472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2206299	1.00[EUR][1000 genomes]
rs56930710	1.00[EUR][1000 genomes]
rs57257422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58149156	1.00[EUR][1000 genomes]
rs59796296	1.00[EUR][1000 genomes]
rs60014051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60151518	1.00[EUR][1000 genomes]
rs60993038	1.00[EUR][1000 genomes]
rs61365006	1.00[EUR][1000 genomes]
rs73032097	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73034238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040271	1.00[EUR][1000 genomes]
rs7549645	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168694000-168698600	Active TSS	Rectal Smooth Muscle	rectum
2	chr1:168694600-168698800	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:168694800-168699000	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:168695000-168698800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:168696000-168701000	Weak transcription	Fetal Heart	heart
6	chr1:168697000-168699200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr1:168697400-168700200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:168697600-168699200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:168697800-168698800	Flanking Active TSS	NHDF-Ad	bronchial
10	chr1:168697800-168699200	Enhancers	Placenta	Placenta
11	chr1:168698000-168698600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr1:168698000-168698600	Flanking Bivalent TSS/Enh	Osteobl	bone
13	chr1:168698000-168698800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr1:168698000-168699000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:168698000-168699200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:168698200-168698600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:168698200-168698600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:168698400-168698600	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:168698400-168698800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:168698400-168698800	Enhancers	NHLF	lung
21	chr1:168698400-168699000	Enhancers	Fetal Lung	lung
22	chr1:168698400-168699000	Enhancers	Fetal Muscle Leg	muscle
23	chr1:168698400-168699200	Enhancers	Fetal Stomach	stomach
24	chr1:168698400-168700600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:168698400-168701400	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:168698400-168703400	Weak transcription	Psoas Muscle	Psoas
27	chr1:168698400-168705800	Weak transcription	Left Ventricle	heart
28	chr1:168698400-168707400	Weak transcription	Aorta	Aorta

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