Variant report

Variant	rs17302688
Chromosome Location	chr1:175058462-175058463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175058271..175062583-chr1:175062770..175067990,6	K562	blood:
2	chr1:175058365..175061494-chr1:175062662..175065562,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10798330	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap]
rs10912888	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap]
rs11577778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11578942	0.80[EUR][1000 genomes]
rs11578961	0.82[EUR][1000 genomes]
rs11582121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583313	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11583729	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.82[ASN][1000 genomes]
rs12059398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12065394	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12068402	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12068982	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076122	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083779	1.00[CHB][hapmap]
rs12087791	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16847779	0.90[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17374668	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2269647	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4466606	1.00[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap]
rs4625241	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs55808408	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55967803	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56226643	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59822966	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61541139	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665471	0.82[EUR][1000 genomes]
rs6695255	0.80[EUR][1000 genomes]
rs6703193	0.82[EUR][1000 genomes]
rs7515773	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap]
rs7546260	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap]
rs9650986	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012861	chr1:175021780-175063160	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv535210	chr1:175021780-175063160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv3609	chr1:175046412-175094406	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17302688	DNM3	cis	cerebellum	SCAN
rs17302688	KLHL20	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175043200-175058600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:175047000-175065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:175056400-175059600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:175057600-175058800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:175057600-175059000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:175057600-175059000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:175057600-175059000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:175057600-175063200	Weak transcription	Right Atrium	heart
9	chr1:175057800-175058600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:175057800-175058600	Enhancers	Fetal Kidney	kidney
11	chr1:175058200-175059000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:175058400-175058600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:175058400-175058600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:175058400-175058600	Enhancers	Fetal Muscle Leg	muscle

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