Variant report

Variant	rs7517902
Chromosome Location	chr1:180517764-180517765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180516263..180518210-chr1:180520202..180523252,4	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10798774	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914021	0.81[CEU][hapmap]
rs10914022	0.81[CEU][hapmap];0.96[GIH][hapmap]
rs10914023	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs10914028	0.90[ASN][1000 genomes]
rs10914034	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10914036	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10914037	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12039331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12069581	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407684	0.81[CEU][hapmap];0.96[GIH][hapmap]
rs13374665	0.81[CEU][hapmap]
rs1416822	0.81[CEU][hapmap]
rs1538622	0.85[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs16856127	0.85[CEU][hapmap]
rs17300340	0.81[CEU][hapmap]
rs17300579	0.81[CEU][hapmap]
rs17300600	0.83[CEU][hapmap]
rs17372362	0.81[CEU][hapmap]
rs4405110	0.81[CEU][hapmap]
rs4651068	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6425644	0.87[CHB][hapmap]
rs6425646	0.81[CEU][hapmap]
rs6680202	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6692401	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6694798	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6694975	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6695171	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6695263	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6699076	0.87[CHB][hapmap]
rs6703124	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72720946	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72720947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513944	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7513963	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7515243	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7517775	0.81[CEU][hapmap]
rs7541993	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7546119	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7550897	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7551178	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7552084	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs946631	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs946636	0.81[CEU][hapmap]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	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
rs7517902	ACBD6	cis	parietal	SCAN
rs7517902	RGS8	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:180511800-180521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:180512200-180521200	Weak transcription	HSMMtube	muscle
4	chr1:180512400-180517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:180513000-180518000	Weak transcription	Fetal Brain Male	brain
6	chr1:180513600-180521200	Weak transcription	Right Ventricle	heart
7	chr1:180515000-180518600	Enhancers	Fetal Heart	heart
8	chr1:180516200-180518400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:180516200-180519000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:180516200-180519400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:180516400-180520600	Weak transcription	Left Ventricle	heart
12	chr1:180516400-180521200	Weak transcription	Right Atrium	heart
13	chr1:180516600-180536800	Weak transcription	Psoas Muscle	Psoas
14	chr1:180517200-180519400	Enhancers	Fetal Brain Female	brain
15	chr1:180517400-180518600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:180517400-180519200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:180517600-180518200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:180517600-180518600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:180517600-180518800	Enhancers	Brain Germinal Matrix	brain
20	chr1:180517600-180523200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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