Variant report

Variant	rs72973623
Chromosome Location	chr1:75223064-75223065
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75218089..75220075-chr1:75222943..75225364,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11538281	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095826	1.00[EUR][1000 genomes]
rs17095828	1.00[EUR][1000 genomes]
rs17095873	1.00[EUR][1000 genomes]
rs28557039	0.90[AFR][1000 genomes]
rs41532045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56801414	1.00[EUR][1000 genomes]
rs56984812	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57299160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57413593	1.00[EUR][1000 genomes]
rs57891038	1.00[EUR][1000 genomes]
rs58387974	1.00[EUR][1000 genomes]
rs60099743	1.00[EUR][1000 genomes]
rs60307267	1.00[EUR][1000 genomes]
rs60486335	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61741065	0.92[AFR][1000 genomes]
rs6702642	1.00[EUR][1000 genomes]
rs72968192	1.00[EUR][1000 genomes]
rs72968194	1.00[EUR][1000 genomes]
rs72970024	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970030	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970039	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970040	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970042	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970049	0.86[AFR][1000 genomes]
rs72973608	0.88[AFR][1000 genomes]
rs72973615	0.88[AFR][1000 genomes]
rs72973628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72973658	1.00[EUR][1000 genomes]
rs74093752	1.00[EUR][1000 genomes]
rs74095148	1.00[EUR][1000 genomes]
rs74095166	1.00[EUR][1000 genomes]
rs74095169	0.82[AFR][1000 genomes]
rs74095179	1.00[EUR][1000 genomes]
rs74095180	1.00[EUR][1000 genomes]
rs74095181	1.00[EUR][1000 genomes]
rs74095182	1.00[EUR][1000 genomes]
rs74095183	1.00[EUR][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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:75201400-75231800	Strong transcription	Dnd41	blood
3	chr1:75202400-75224000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr1:75202400-75226400	Strong transcription	Fetal Intestine Large	intestine
5	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
7	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:75202800-75225600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
12	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
14	chr1:75206200-75232800	Weak transcription	NHLF	lung
15	chr1:75206800-75230600	Weak transcription	Pancreas	Pancrea
16	chr1:75206800-75233600	Weak transcription	Gastric	stomach
17	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:75209400-75228600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:75210600-75229000	Weak transcription	Brain Angular Gyrus	brain
20	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
21	chr1:75213400-75227600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:75214400-75225400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr1:75214400-75225800	Strong transcription	Ovary	ovary
24	chr1:75214400-75228200	Strong transcription	Primary T cells from cord blood	blood
25	chr1:75214400-75232200	Strong transcription	Liver	Liver
26	chr1:75214600-75225000	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:75214600-75225600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr1:75214600-75226400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:75214600-75227000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:75214800-75227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:75214800-75228200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:75214800-75228600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr1:75215000-75224200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:75215200-75225000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
37	chr1:75216400-75225600	Strong transcription	Primary B cells from cord blood	blood
38	chr1:75216800-75223800	Strong transcription	HepG2	liver
39	chr1:75216800-75226000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:75217400-75225600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:75218000-75223600	Strong transcription	Brain Germinal Matrix	brain
42	chr1:75218400-75224600	Strong transcription	HUVEC	blood vessel
43	chr1:75218800-75224000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:75219200-75231000	Weak transcription	Lung	lung
45	chr1:75219200-75233400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:75219600-75223600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:75219800-75232400	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:75219800-75232600	Weak transcription	K562	blood
49	chr1:75220000-75223400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:75220000-75230600	Weak transcription	Fetal Heart	heart

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