Variant report

Variant	rs1933008
Chromosome Location	chr1:220775988-220775989
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1073460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12048541	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs12568419	0.81[JPT][hapmap]
rs17007885	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1933002	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2253641	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2378401	0.95[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2589578	0.92[ASN][1000 genomes]
rs2589588	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2786601	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2786604	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2786607	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2786609	0.86[ASN][1000 genomes]
rs2786613	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2786619	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2889928	0.90[ASN][1000 genomes]
rs2993209	0.99[ASN][1000 genomes]
rs2994527	0.86[ASN][1000 genomes]
rs3737296	0.91[JPT][hapmap]
rs3806329	0.85[CHD][hapmap]
rs4011894	0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4846657	0.92[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap]
rs6541155	0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6677302	0.90[ASN][1000 genomes]
rs6699189	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6699196	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7514431	0.91[JPT][hapmap]
rs9430949	0.80[JPT][hapmap]
rs9431262	0.85[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1933008	ESRRG	cis	cerebellum	SCAN
rs1933008	GPATCH2	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220749800-220799000	Weak transcription	Aorta	Aorta
2	chr1:220751800-220799000	Weak transcription	Fetal Stomach	stomach
3	chr1:220752600-220808600	Weak transcription	Left Ventricle	heart
4	chr1:220753400-220778400	Weak transcription	NHEK	skin
5	chr1:220756000-220790800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:220761200-220799200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:220762600-220780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:220764200-220790200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:220764400-220779200	Weak transcription	Fetal Heart	heart
10	chr1:220767400-220798600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:220767600-220799000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:220767800-220784400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:220767800-220826400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:220768000-220790800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:220768000-220804600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:220768000-220813800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:220768200-220778200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:220768200-220784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:220768200-220791600	Weak transcription	Brain Germinal Matrix	brain
20	chr1:220768400-220799000	Weak transcription	Adipose Nuclei	Adipose
21	chr1:220768800-220784400	Weak transcription	Fetal Brain Female	brain
22	chr1:220773400-220784600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:220774000-220796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:220775000-220776000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:220775000-220776400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:220775000-220776400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:220775000-220776600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:220775400-220788400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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