Variant report

Variant	rs1051122
Chromosome Location	chr1:75190452-75190453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10874122	0.92[ASN][1000 genomes]
rs10890142	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11485298	0.91[ASN][1000 genomes]
rs11485555	0.93[ASN][1000 genomes]
rs12410060	0.92[ASN][1000 genomes]
rs1248244	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1409785	0.91[ASN][1000 genomes]
rs1465483	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1475396	0.91[ASN][1000 genomes]
rs1969111	0.87[ASN][1000 genomes]
rs1980851	0.87[ASN][1000 genomes]
rs277368	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277369	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277374	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277375	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277376	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277380	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277396	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs277398	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277402	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2795030	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28482086	0.91[ASN][1000 genomes]
rs28568334	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28583318	0.91[ASN][1000 genomes]
rs2881153	0.91[ASN][1000 genomes]
rs28857918	0.93[ASN][1000 genomes]
rs28879157	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3806160	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3819946	0.91[ASN][1000 genomes]
rs3931020	0.92[ASN][1000 genomes]
rs405445	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4145871	0.91[ASN][1000 genomes]
rs438014	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs452242	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455032	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525487	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7522428	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968358	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv871152	chr1:75152186-75197533	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1051122	CRYZ	cis	lung	GTEx
rs1051122	CRYZ	cis	Whole Blood	GTEx
rs1051122	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx
rs1051122	CRYZ	cis	multi-tissue	Pritchard
rs1051122	CRYZ	cis	Adipose Subcutaneous	GTEx
rs1051122	CRYZ	Cis_1M	lymphoblastoid	RTeQTL
rs1051122	CRYZ	cis	Artery Tibial	GTEx
rs1051122	CRYZ	cis	Esophagus Mucosa	GTEx
rs1051122	CRYZ	cis	Nerve Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75166400-75191400	Weak transcription	Placenta	Placenta
2	chr1:75166600-75194800	Weak transcription	Esophagus	oesophagus
3	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
4	chr1:75167600-75190600	Strong transcription	Liver	Liver
5	chr1:75167600-75190800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:75169400-75190600	Strong transcription	Primary B cells from cord blood	blood
7	chr1:75169400-75191600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:75169800-75191800	Weak transcription	Colonic Mucosa	Colon
9	chr1:75171000-75197200	Weak transcription	Brain Angular Gyrus	brain
10	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
11	chr1:75175400-75196000	Weak transcription	HSMMtube	muscle
12	chr1:75176800-75191600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:75177400-75191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:75177400-75191600	Weak transcription	Gastric	stomach
15	chr1:75177400-75191800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:75178000-75191800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:75179400-75191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:75179600-75191200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:75179800-75191600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:75179800-75191600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:75180000-75191000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:75180000-75196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:75180400-75191000	Strong transcription	A549	lung
24	chr1:75180400-75197200	Weak transcription	Psoas Muscle	Psoas
25	chr1:75180600-75191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:75180800-75190800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:75180800-75190800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:75180800-75190800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:75181400-75190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:75181600-75190600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:75182200-75191000	Strong transcription	NHDF-Ad	bronchial
32	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
33	chr1:75183600-75190600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:75183800-75194000	Weak transcription	Fetal Heart	heart
35	chr1:75184400-75191600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:75184800-75191000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:75185000-75191600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:75185600-75190800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:75185800-75191000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:75186200-75191600	Weak transcription	Fetal Stomach	stomach
41	chr1:75187200-75191800	Weak transcription	Dnd41	blood
42	chr1:75187200-75195400	Weak transcription	HMEC	breast
43	chr1:75187400-75191600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:75187400-75197200	Weak transcription	Stomach Mucosa	stomach
45	chr1:75187600-75191600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:75187800-75197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:75188000-75191400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:75188000-75194400	Weak transcription	Small Intestine	intestine
49	chr1:75188200-75191400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:75188200-75191600	Weak transcription	Brain Anterior Caudate	brain

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