Variant report

Variant	rs74131001
Chromosome Location	chr1:183990866-183990867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55734904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56124216	0.91[AMR][1000 genomes]
rs57744980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59701007	0.91[AMR][1000 genomes]
rs60210878	0.91[AMR][1000 genomes]
rs60591205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60616956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130994	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130996	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131000	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132770	0.91[AMR][1000 genomes]
rs74132771	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132774	0.91[AMR][1000 genomes]
rs74132775	0.83[AMR][1000 genomes]
rs74132776	0.83[AMR][1000 genomes]
rs74132777	0.91[AMR][1000 genomes]
rs74132778	0.91[AMR][1000 genomes]
rs74133803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:183984000-183991600	Weak transcription	NHDF-Ad	bronchial
2	chr1:183985600-184002800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:183986200-184001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:183986600-183993000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:183986800-183991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:183987000-183992000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:183987000-183992400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:183987000-183992400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:183987200-183991600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:183987200-183991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:183988400-184003200	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:183988400-184003400	Enhancers	Brain Substantia Nigra	brain
13	chr1:183988600-183992000	Weak transcription	Psoas Muscle	Psoas
14	chr1:183989000-183994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:183989000-183994200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:183989000-183994400	Weak transcription	Fetal Brain Female	brain
17	chr1:183989200-183997400	Enhancers	Brain Hippocampus Middle	brain
18	chr1:183989200-183999600	Enhancers	Brain Anterior Caudate	brain
19	chr1:183989600-183993000	Enhancers	Fetal Muscle Leg	muscle
20	chr1:183989600-183995800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:183989600-183998600	Enhancers	Colon Smooth Muscle	Colon
22	chr1:183989600-184000000	Enhancers	Fetal Heart	heart
23	chr1:183989800-183991000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:183989800-183992400	Weak transcription	Fetal Brain Male	brain
25	chr1:183989800-183992800	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:183989800-183995600	Enhancers	Fetal Stomach	stomach
27	chr1:183990000-183991200	Enhancers	Left Ventricle	heart
28	chr1:183990000-183991400	Enhancers	Ovary	ovary
29	chr1:183990200-183993000	Enhancers	Brain Germinal Matrix	brain
30	chr1:183990200-183993200	Enhancers	Brain Angular Gyrus	brain
31	chr1:183990200-183994200	Enhancers	K562	blood
32	chr1:183990200-183994400	Weak transcription	Right Ventricle	heart
33	chr1:183990400-183992400	Weak transcription	Right Atrium	heart
34	chr1:183990400-183995200	Enhancers	Fetal Kidney	kidney
35	chr1:183990400-183998200	Enhancers	Fetal Lung	lung
36	chr1:183990600-183992800	Enhancers	HSMMtube	muscle
37	chr1:183990800-183991000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:183990800-183991200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:183990800-183991200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:183990800-183991200	Enhancers	HMEC	breast
41	chr1:183990800-183991200	Enhancers	NHEK	skin
42	chr1:183990800-183991800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:183990800-183991800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:183990800-183991800	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:183990800-183992000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:183990800-183994200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:183990800-183995000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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