Variant report

Variant	rs1215808
Chromosome Location	chr12:106662242-106662243
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	chr12:106644967..106648309-chr12:106659700..106662827,5	MCF-7	breast:
2	chr12:106639675..106642862-chr12:106661081..106665256,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136026	Chromatin interaction
ENSG00000258355	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10507210	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10746057	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10778460	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10861566	0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10861567	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10861569	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11112924	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11112926	0.83[ASN][1000 genomes]
rs11112927	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11112928	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1148408	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148409	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1148410	0.95[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1148412	0.90[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs1148442	0.95[ASN][1000 genomes]
rs1148443	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12230190	0.95[ASN][1000 genomes]
rs12823006	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2047545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2279760	0.81[JPT][hapmap]
rs7304941	0.81[JPT][hapmap]
rs7308143	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7311121	0.96[ASN][1000 genomes]
rs7311133	0.96[ASN][1000 genomes]
rs7315560	0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1215808	CCDC53	cis	cerebellum	SCAN
rs1215808	ISCU	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106660600-106662400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:106660800-106663200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:106661000-106663800	Weak transcription	Left Ventricle	heart
4	chr12:106661200-106664200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:106661400-106662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:106661400-106664000	Enhancers	K562	blood
7	chr12:106661600-106662800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:106661600-106669000	Weak transcription	Psoas Muscle	Psoas
9	chr12:106662000-106663000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:106662000-106665200	Weak transcription	Fetal Heart	heart
11	chr12:106662200-106664000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:106662200-106664400	Enhancers	Primary monocytes fromperipheralblood	blood

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