Variant report

Variant	rs4650005
Chromosome Location	chr1:75231723-75231724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75230355..75233919-chr1:75236315..75238196,3	K562	blood:
2	chr1:75197358..75200500-chr1:75231674..75234194,4	K562	blood:
3	chr1:71544757..71547243-chr1:75230448..75232270,2	K562	blood:
4	chr1:75226788..75230241-chr1:75231524..75234649,3	K562	blood:

Variant related genes	Relation type
ENSG00000229956	Chromatin interaction
ENSG00000162623	Chromatin interaction
ENSG00000132485	Chromatin interaction
ENSG00000116791	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11162945	0.84[AMR][1000 genomes]
rs1133891	0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs11485264	0.82[MEX][hapmap]
rs11485299	0.84[AMR][1000 genomes]
rs12034724	0.84[AMR][1000 genomes]
rs12043726	0.84[AMR][1000 genomes]
rs13375787	1.00[ASW][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1359750	0.84[AMR][1000 genomes]
rs1581870	0.87[AMR][1000 genomes]
rs2032969	0.82[MEX][hapmap]
rs28374065	0.80[AMR][1000 genomes]
rs28436025	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28445096	0.83[AMR][1000 genomes]
rs3819947	0.84[AMR][1000 genomes]
rs4650004	0.84[AMR][1000 genomes]
rs4650007	0.87[AMR][1000 genomes]
rs58715708	0.83[AMR][1000 genomes]
rs6681874	0.87[AMR][1000 genomes]
rs67696801	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535692	0.84[AMR][1000 genomes]
rs7540514	0.84[AMR][1000 genomes]
rs9647	0.84[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4650005	CRYZ	cis	lymphoblastoid	seeQTL
rs4650005	TYW3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75201400-75231800	Strong transcription	Dnd41	blood
2	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
4	chr1:75206200-75232800	Weak transcription	NHLF	lung
5	chr1:75206800-75233600	Weak transcription	Gastric	stomach
6	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
8	chr1:75214400-75232200	Strong transcription	Liver	Liver
9	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
11	chr1:75219200-75233400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:75219800-75232400	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:75219800-75232600	Weak transcription	K562	blood
14	chr1:75221400-75231800	Weak transcription	NHDF-Ad	bronchial
15	chr1:75221400-75232400	Weak transcription	NHEK	skin
16	chr1:75221400-75238000	Weak transcription	A549	lung
17	chr1:75221600-75234600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:75221600-75237600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:75222200-75236000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:75223000-75232600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:75223000-75232800	Weak transcription	Esophagus	oesophagus
22	chr1:75223000-75235200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:75223200-75231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:75223200-75232200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:75223200-75232600	Weak transcription	Fetal Brain Female	brain
26	chr1:75223200-75232800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:75223200-75233400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:75223600-75232800	Weak transcription	Thymus	Thymus
29	chr1:75223600-75235200	Weak transcription	Spleen	Spleen
30	chr1:75223800-75232800	Weak transcription	HepG2	liver
31	chr1:75223800-75233600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:75224000-75232600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:75224200-75233000	Weak transcription	Fetal Lung	lung
34	chr1:75224600-75232800	Weak transcription	Osteobl	bone
35	chr1:75225000-75231800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:75225000-75235000	Weak transcription	Fetal Kidney	kidney
37	chr1:75225400-75232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:75225600-75232800	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:75225800-75233600	Weak transcription	Ovary	ovary
40	chr1:75226000-75237600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:75226400-75232600	Weak transcription	Fetal Stomach	stomach
42	chr1:75226600-75232000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:75227200-75232000	Strong transcription	HSMM	muscle
44	chr1:75227600-75232000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:75227800-75232400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:75227800-75233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:75227800-75235600	Weak transcription	HUVEC	blood vessel
48	chr1:75228000-75232600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:75228000-75234400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:75228000-75235200	Weak transcription	Left Ventricle	heart

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