Variant report

Variant	rs277368
Chromosome Location	chr1:75230606-75230607
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	chr1:75230355..75233919-chr1:75236315..75238196,3	K562	blood:
2	chr1:71544757..71547243-chr1:75230448..75232270,2	K562	blood:

Variant related genes	Relation type
ENSG00000229956	Chromatin interaction
ENSG00000132485	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 16 )

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

rs_ID	r²[population]
rs1051122	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874122	1.00[ASN][1000 genomes]
rs10890142	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11485298	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11485555	0.87[ASN][1000 genomes]
rs12410060	1.00[ASN][1000 genomes]
rs1248244	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1409785	0.99[ASN][1000 genomes]
rs1465483	0.89[ASN][1000 genomes]
rs1475396	0.99[ASN][1000 genomes]
rs1969111	0.95[ASN][1000 genomes]
rs1980851	0.95[ASN][1000 genomes]
rs277369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277374	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs277375	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs277376	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277380	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277398	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs277402	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2795030	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28482086	0.99[ASN][1000 genomes]
rs28568334	0.97[ASN][1000 genomes]
rs28583318	0.99[ASN][1000 genomes]
rs2881153	0.99[ASN][1000 genomes]
rs28857918	0.97[ASN][1000 genomes]
rs28879157	0.97[ASN][1000 genomes]
rs3806160	0.97[ASN][1000 genomes]
rs3819946	0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3931020	1.00[ASN][1000 genomes]
rs405445	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4145871	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs438014	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs452242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455032	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs525487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522428	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs968358	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs277368	CRYZ	Cis_1M	lymphoblastoid	RTeQTL
rs277368	CRYZ	cis	parietal	SCAN
rs277368	CRYZ	cis	Adipose Subcutaneous	GTEx
rs277368	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx
rs277368	CRYZ	cis	lymphoblastoid	seeQTL
rs277368	TYW3	cis	parietal	SCAN
rs277368	CRYZ	cis	lung	GTEx
rs277368	CRYZ	cis	Whole Blood	GTEx
rs277368	CRYZ	cis	Esophagus Mucosa	GTEx
rs277368	CRYZ	cis	multi-tissue	Pritchard
rs277368	CRYZ	cis	cerebellum	SCAN
rs277368	TYW3	cis	cerebellum	SCAN
rs277368	CRYZ	cis	Nerve Tibial	GTEx
rs277368	CRYZ	cis	lesional skin	skin_eQTL
rs277368	CRYZ	cis	Artery Tibial	GTEx
rs277368	CRYZ	cis	Lymphoblastoid	GTEx

Chromatin state (count:111 , 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	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
5	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
9	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
11	chr1:75206200-75232800	Weak transcription	NHLF	lung
12	chr1:75206800-75233600	Weak transcription	Gastric	stomach
13	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
15	chr1:75214400-75232200	Strong transcription	Liver	Liver
16	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
18	chr1:75219200-75231000	Weak transcription	Lung	lung
19	chr1:75219200-75233400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:75219800-75232400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:75219800-75232600	Weak transcription	K562	blood
22	chr1:75220000-75231000	Weak transcription	Hela-S3	cervix
23	chr1:75220800-75230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:75221400-75231800	Weak transcription	NHDF-Ad	bronchial
25	chr1:75221400-75232400	Weak transcription	NHEK	skin
26	chr1:75221400-75238000	Weak transcription	A549	lung
27	chr1:75221600-75234600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:75221600-75237600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:75222200-75236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:75223000-75231200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:75223000-75231200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:75223000-75232600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:75223000-75232800	Weak transcription	Esophagus	oesophagus
34	chr1:75223000-75235200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:75223200-75231000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:75223200-75231400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:75223200-75231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:75223200-75232200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr1:75223200-75232600	Weak transcription	Fetal Brain Female	brain
40	chr1:75223200-75232800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:75223200-75233400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:75223600-75231000	Weak transcription	Brain Germinal Matrix	brain
43	chr1:75223600-75232800	Weak transcription	Thymus	Thymus
44	chr1:75223600-75235200	Weak transcription	Spleen	Spleen
45	chr1:75223800-75232800	Weak transcription	HepG2	liver
46	chr1:75223800-75233600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:75224000-75232600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:75224200-75233000	Weak transcription	Fetal Lung	lung
49	chr1:75224400-75231200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:75224600-75232800	Weak transcription	Osteobl	bone

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