Variant report

Variant	rs74101991
Chromosome Location	chr1:95506275-95506276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs41292697	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56032536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56204307	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs57040913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57122039	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57213707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57950891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59130528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59338711	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59569067	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60405904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60491236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60549805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60555923	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60757816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61488063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61772226	0.94[AFR][1000 genomes]
rs61774271	0.94[AFR][1000 genomes]
rs74101957	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs74101958	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101968	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74101972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74101979	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103606	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103627	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103629	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103644	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103651	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs74103654	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3402740	chr1:95500980-95527860	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95480000-95508800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:95485200-95507000	Weak transcription	Fetal Heart	heart
3	chr1:95488000-95507000	Weak transcription	Ovary	ovary
4	chr1:95488200-95507000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
6	chr1:95488400-95507000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:95488400-95507800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:95488600-95507800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:95489400-95517200	Weak transcription	Aorta	Aorta
10	chr1:95491400-95507000	Weak transcription	Fetal Kidney	kidney
11	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:95492600-95507800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:95492800-95507000	Weak transcription	Fetal Stomach	stomach
14	chr1:95492800-95508800	Weak transcription	Primary T cells from cord blood	blood
15	chr1:95493400-95508800	Weak transcription	Liver	Liver
16	chr1:95495200-95508000	Weak transcription	HepG2	liver
17	chr1:95495200-95508800	Weak transcription	Fetal Intestine Small	intestine
18	chr1:95495400-95507000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:95497000-95508000	Weak transcription	Left Ventricle	heart
20	chr1:95500600-95507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:95501400-95506800	Weak transcription	NHLF	lung
22	chr1:95501800-95506800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:95501800-95507000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:95501800-95507000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:95502000-95507000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:95502000-95512200	Weak transcription	GM12878-XiMat	blood
27	chr1:95502600-95508000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:95502600-95509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:95504400-95506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:95504400-95507200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:95504400-95507200	Enhancers	NHEK	skin
32	chr1:95504400-95507400	Enhancers	HMEC	breast
33	chr1:95504800-95506800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:95505000-95507800	Enhancers	HSMM	muscle
35	chr1:95505000-95508800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:95505400-95507000	Weak transcription	Osteobl	bone
37	chr1:95505600-95507000	Weak transcription	NH-A	brain
38	chr1:95505600-95537400	Weak transcription	Right Atrium	heart
39	chr1:95505800-95507400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:95505800-95507800	Enhancers	HSMMtube	muscle
41	chr1:95505800-95509600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:95506000-95506400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:95506000-95506400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:95506000-95506400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:95506000-95517000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
47	chr1:95506200-95506600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:95506200-95507000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:95506200-95507000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:95506200-95507000	Weak transcription	Placenta	Placenta

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