Variant report

Variant	rs1044710
Chromosome Location	chr2:211297355-211297356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10182794	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10183539	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1019394	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10200430	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1044708	0.85[LWK][hapmap]
rs10932330	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13003388	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13420747	0.91[CEU][hapmap]
rs1350462	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1458278	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1902939	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1902940	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2021215	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2370953	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3911559	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4673522	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4673523	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57910651	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58025921	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6726864	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73069721	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7601667	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1044710	CRYGB	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211287200-211298200	Weak transcription	HMEC	breast
2	chr2:211287200-211299200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:211287200-211299600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:211287400-211297800	Weak transcription	NH-A	brain
5	chr2:211290600-211299000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:211291400-211299400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:211291600-211299000	Weak transcription	Lung	lung
8	chr2:211291600-211300800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:211291800-211299600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:211292200-211297400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:211292200-211297400	Weak transcription	Thymus	Thymus
12	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
13	chr2:211293000-211299400	Weak transcription	Esophagus	oesophagus
14	chr2:211293000-211305800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:211293200-211297800	Weak transcription	Fetal Kidney	kidney
16	chr2:211293200-211299000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:211293200-211299000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:211293200-211299200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:211293200-211307400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:211293200-211307800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:211293200-211311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:211293400-211299000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:211293600-211299000	Weak transcription	Pancreas	Pancrea
24	chr2:211293800-211297600	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:211293800-211297800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:211293800-211298400	Weak transcription	Hela-S3	cervix
27	chr2:211293800-211299400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:211293800-211299400	Weak transcription	Spleen	Spleen
29	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:211294200-211299200	Enhancers	Fetal Heart	heart
31	chr2:211294200-211301400	Strong transcription	Primary T cells from cord blood	blood
32	chr2:211294400-211303400	Weak transcription	NHLF	lung
33	chr2:211294600-211297400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:211294600-211297400	Weak transcription	A549	lung
35	chr2:211294800-211306200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:211294800-211306400	Strong transcription	Dnd41	blood
37	chr2:211294800-211322200	Weak transcription	K562	blood
38	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:211295000-211297600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:211295000-211306600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr2:211295000-211307400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
44	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
45	chr2:211295200-211298000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:211295200-211299000	Weak transcription	Placenta	Placenta
47	chr2:211295200-211299400	Weak transcription	Right Ventricle	heart
48	chr2:211295400-211309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:211295600-211297800	Strong transcription	Fetal Stomach	stomach
50	chr2:211295600-211301800	Strong transcription	Stomach Smooth Muscle	stomach

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