Variant report

Variant	rs3845356
Chromosome Location	chr1:75219066-75219067
allele	C/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: 27 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10161	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1424671	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1574941	1.00[ASN][1000 genomes]
rs1590639	1.00[ASN][1000 genomes]
rs2345438	0.81[EUR][1000 genomes]
rs28588069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594379	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602706	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28640981	0.81[AMR][1000 genomes]
rs28654603	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28683801	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28685856	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28695657	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28767547	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28796389	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28796647	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28831813	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3845357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57880013	0.93[ASN][1000 genomes]
rs61790736	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61790737	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61790739	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs749690	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs3845356	CRYZ	cis	Artery Tibial	GTEx
rs3845356	CRYZ	cis	normal skin	skin_eQTL
rs3845356	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx
rs3845356	CRYZ	cis	uninvolved skin	skin_eQTL
rs3845356	TYW3	cis	Muscle Skeletal	GTEx
rs3845356	CRYZ	cis	multi-tissue	Pritchard
rs3845356	CRYZ	cis	Esophagus Mucosa	GTEx
rs3845356	CRYZ	cis	lung	GTEx
rs3845356	CRYZ	cis	Nerve Tibial	GTEx
rs3845356	CRYZ	cis	Whole Blood	GTEx
rs3845356	CRYZ	Cis_1M	lymphoblastoid	RTeQTL
rs3845356	CRYZ	cis	lesional skin	skin_eQTL
rs3845356	CRYZ	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:121 , 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	chr1:75202800-75222800	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:75202800-75225600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:75204000-75221400	Weak transcription	Fetal Brain Male	brain
12	chr1:75204000-75221800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
15	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:75205600-75221200	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:75206000-75220400	Weak transcription	NHEK	skin
18	chr1:75206200-75220400	Weak transcription	HSMMtube	muscle
19	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
20	chr1:75206200-75232800	Weak transcription	NHLF	lung
21	chr1:75206400-75221600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:75206800-75230600	Weak transcription	Pancreas	Pancrea
23	chr1:75206800-75233600	Weak transcription	Gastric	stomach
24	chr1:75207600-75222000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:75207800-75221200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:75208200-75220000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:75209400-75228600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:75210600-75229000	Weak transcription	Brain Angular Gyrus	brain
30	chr1:75210800-75219400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:75210800-75220600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:75210800-75220600	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:75211000-75220400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:75211000-75221600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:75211000-75222400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:75211000-75222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
38	chr1:75211200-75222400	Weak transcription	Esophagus	oesophagus
39	chr1:75211600-75221200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:75211600-75222400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:75211600-75222400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:75212000-75221200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:75213400-75227600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:75213600-75222000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:75213800-75222000	Strong transcription	Fetal Thymus	thymus
46	chr1:75214200-75219200	Strong transcription	Brain Anterior Caudate	brain
47	chr1:75214200-75222800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:75214400-75220000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:75214400-75221000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr1:75214400-75225400	Strong transcription	Rectal Mucosa Donor 29	rectum

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