Variant report

Variant	rs1362490
Chromosome Location	chr2:171635765-171635766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:171635396-171635825	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171633926..171636213-chr2:171641664..171644131,2	K562	blood:
2	chr2:171563836..171566367-chr2:171635740..171638328,2	K562	blood:
3	chr2:171548566..171551496-chr2:171635134..171636707,2	K562	blood:

Variant related genes	Relation type
ENSG00000222509	TF binding region
ERICH2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10165379	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10175644	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10181282	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10194303	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10432420	0.84[ASN][1000 genomes]
rs10930438	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11895153	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs12612710	0.83[EUR][1000 genomes]
rs12613472	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12619010	0.83[EUR][1000 genomes]
rs12994793	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13028382	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894919	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2287111	0.83[YRI][hapmap]
rs2883886	0.80[YRI][hapmap]
rs34002163	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3749036	0.85[EUR][1000 genomes]
rs3764915	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3764916	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4132720	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433235	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433238	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433246	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433247	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433248	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66833017	0.82[EUR][1000 genomes]
rs6711176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723611	0.86[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6726371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733809	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6736129	0.82[ASN][1000 genomes]
rs6738022	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6757195	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6759584	0.82[YRI][hapmap]
rs7580460	0.82[EUR][1000 genomes]
rs7608979	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs869954	0.84[EUR][1000 genomes]
rs953680	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs954321	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9973711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1362490	MYO3B	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171629400-171641000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:171629600-171658800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:171630000-171635800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:171630200-171641800	Weak transcription	K562	blood
5	chr2:171634600-171640600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:171635200-171635800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:171635200-171649800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:171635400-171635800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:171635400-171635800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:171635400-171636000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:171635600-171635800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:171635600-171646800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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