Variant report

Variant	rs28594379
Chromosome Location	chr1:75224560-75224561
allele	A/G
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: 24 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10161	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125889	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12129513	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1574941	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590639	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17618340	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2345438	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28535522	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28588069	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28640981	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28804435	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35497701	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3845356	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845357	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889133	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55895041	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57880013	0.93[ASN][1000 genomes]
rs61790739	0.80[EUR][1000 genomes]
rs6668736	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs749690	0.80[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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs28594379	CRYZ	cis	Adipose Subcutaneous	GTEx
rs28594379	CRYZ	cis	multi-tissue	Pritchard
rs28594379	CRYZ	cis	Nerve Tibial	GTEx
rs28594379	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx
rs28594379	CRYZ	Cis_1M	lymphoblastoid	RTeQTL
rs28594379	CRYZ	cis	lung	GTEx

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	chr1:75202400-75226400	Strong transcription	Fetal Intestine Large	intestine
4	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
6	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:75202800-75225600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
11	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
13	chr1:75206200-75232800	Weak transcription	NHLF	lung
14	chr1:75206800-75230600	Weak transcription	Pancreas	Pancrea
15	chr1:75206800-75233600	Weak transcription	Gastric	stomach
16	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:75209400-75228600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:75210600-75229000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
20	chr1:75213400-75227600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:75214400-75225400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:75214400-75225800	Strong transcription	Ovary	ovary
23	chr1:75214400-75228200	Strong transcription	Primary T cells from cord blood	blood
24	chr1:75214400-75232200	Strong transcription	Liver	Liver
25	chr1:75214600-75225000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:75214600-75225600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:75214600-75226400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:75214600-75227000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:75214800-75227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:75214800-75228200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:75214800-75228600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:75215200-75225000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
35	chr1:75216400-75225600	Strong transcription	Primary B cells from cord blood	blood
36	chr1:75216800-75226000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:75217400-75225600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:75218400-75224600	Strong transcription	HUVEC	blood vessel
39	chr1:75219200-75231000	Weak transcription	Lung	lung
40	chr1:75219200-75233400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:75219800-75232400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:75219800-75232600	Weak transcription	K562	blood
43	chr1:75220000-75230600	Weak transcription	Fetal Heart	heart
44	chr1:75220000-75231000	Weak transcription	Hela-S3	cervix
45	chr1:75220200-75228000	Strong transcription	Left Ventricle	heart
46	chr1:75220600-75225000	Strong transcription	Fetal Kidney	kidney
47	chr1:75220600-75225600	Strong transcription	Brain Hippocampus Middle	brain
48	chr1:75220800-75230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:75221000-75225400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr1:75221200-75224600	Weak transcription	HMEC	breast

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