Variant report

Variant	rs73567597
Chromosome Location	chr8:48540274-48540275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.89[AFR][1000 genomes]
rs57659543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565212	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.89[AFR][1000 genomes]
rs73565260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567589	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178070	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
2	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
4	chr8:48523200-48545400	Weak transcription	Spleen	Spleen
5	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:48525000-48544000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:48532200-48543000	Weak transcription	Psoas Muscle	Psoas
9	chr8:48535200-48542600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:48535200-48547200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:48535600-48554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:48535800-48554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:48536600-48540400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:48540000-48540400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:48540000-48540400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:48540000-48540400	Enhancers	Colon Smooth Muscle	Colon
17	chr8:48540000-48540400	Active TSS	Fetal Kidney	kidney
18	chr8:48540000-48540400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:48540000-48540400	Active TSS	HSMMtube	muscle
20	chr8:48540000-48540400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:48540000-48540600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr8:48540000-48540600	Active TSS	NHLF	lung
23	chr8:48540000-48540800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:48540000-48540800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:48540000-48541000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:48540000-48541000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:48540000-48541000	Flanking Active TSS	Osteobl	bone
28	chr8:48540000-48541600	Enhancers	Rectal Smooth Muscle	rectum
29	chr8:48540200-48540400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:48540200-48540400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:48540200-48540400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:48540200-48540400	Active TSS	Liver	Liver
33	chr8:48540200-48540400	Enhancers	Fetal Intestine Small	intestine
34	chr8:48540200-48540400	Enhancers	Lung	lung
35	chr8:48540200-48540400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr8:48540200-48540600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:48540200-48540600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:48540200-48540600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr8:48540200-48540600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:48540200-48540600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:48540200-48540600	Active TSS	Adipose Nuclei	Adipose
42	chr8:48540200-48540600	Active TSS	Brain Anterior Caudate	brain
43	chr8:48540200-48540600	Active TSS	Brain Hippocampus Middle	brain
44	chr8:48540200-48540600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:48540200-48540600	Flanking Active TSS	Fetal Lung	lung
46	chr8:48540200-48540600	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr8:48540200-48540600	Enhancers	Placenta	Placenta
48	chr8:48540200-48540600	Active TSS	Left Ventricle	heart
49	chr8:48540200-48540600	Active TSS	Right Atrium	heart
50	chr8:48540200-48540600	Active TSS	Right Ventricle	heart

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