Variant report

Variant	rs28831813
Chromosome Location	chr1:75209522-75209523
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	chr1:75198016..75202216-chr1:75208581..75212721,6	K562	blood:

Variant related genes	Relation type
ENSG00000116791	Chromatin interaction
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12129513	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1424671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2345438	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28535522	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28588069	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28602706	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28640981	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28654603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28683801	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28685856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28695657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28767547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28796389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28796647	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28804435	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35497701	1.00[ASN][1000 genomes]
rs3845356	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3845357	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3889133	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55895041	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790736	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790737	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790739	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749690	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs28831813	TYW3	cis	Muscle Skeletal	GTEx
rs28831813	CRYZ	cis	Skin Sun Exposed Lower leg	GTEx
rs28831813	CRYZ	cis	lung	GTEx
rs28831813	CRYZ	cis	Nerve Tibial	GTEx
rs28831813	CRYZ	cis	Whole Blood	GTEx
rs28831813	CRYZ	Cis_1M	lymphoblastoid	RTeQTL
rs28831813	CRYZ	cis	Artery Tibial	GTEx
rs28831813	CRYZ	cis	Artery Aorta	GTEx
rs28831813	CRYZ	cis	Adipose Subcutaneous	GTEx
rs28831813	CRYZ	cis	Esophagus Mucosa	GTEx

Chromatin state (count:122 , 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	chr1:75200200-75217600	Weak transcription	Stomach Mucosa	stomach
3	chr1:75200400-75210600	Weak transcription	Colonic Mucosa	Colon
4	chr1:75200400-75218400	Weak transcription	Fetal Heart	heart
5	chr1:75201200-75210600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:75201200-75212400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:75201400-75212800	Strong transcription	Primary B cells from cord blood	blood
8	chr1:75201400-75231800	Strong transcription	Dnd41	blood
9	chr1:75202400-75209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:75202400-75210000	Strong transcription	Fetal Thymus	thymus
11	chr1:75202400-75211400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:75202400-75212200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:75202400-75212800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:75202400-75212800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:75202400-75213000	Strong transcription	Liver	Liver
16	chr1:75202400-75219000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:75202400-75224000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:75202400-75226400	Strong transcription	Fetal Intestine Large	intestine
19	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
21	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:75202600-75211000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:75202600-75212400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:75202600-75212400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:75202800-75213000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:75202800-75222800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:75202800-75225600	Strong transcription	Fetal Muscle Trunk	muscle
29	chr1:75203000-75211800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:75203000-75212800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr1:75203000-75213000	Strong transcription	Primary T cells from cord blood	blood
32	chr1:75203200-75209800	Strong transcription	Brain Hippocampus Middle	brain
33	chr1:75204000-75218400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:75204000-75221400	Weak transcription	Fetal Brain Male	brain
35	chr1:75204000-75221800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
38	chr1:75204400-75210200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:75204400-75217000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:75205000-75210600	Strong transcription	Placenta	Placenta
41	chr1:75205000-75212600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:75205000-75213000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:75205000-75213000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr1:75205000-75213200	Strong transcription	Left Ventricle	heart
45	chr1:75205200-75211600	Strong transcription	Fetal Stomach	stomach
46	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:75205600-75210600	Strong transcription	Brain Anterior Caudate	brain
48	chr1:75205600-75210600	Strong transcription	Fetal Brain Female	brain
49	chr1:75205600-75211600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:75205600-75211600	Strong transcription	Fetal Intestine Small	intestine

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