Variant report

Variant	rs7251154
Chromosome Location	chr19:42305941-42305942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42295737..42298028-chr19:42304935..42307847,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10401370	0.81[EUR][1000 genomes]
rs10401528	0.81[EUR][1000 genomes]
rs10401928	0.83[EUR][1000 genomes]
rs10407206	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs10407619	0.83[EUR][1000 genomes]
rs10407797	0.81[EUR][1000 genomes]
rs10408367	0.89[CEU][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs10410918	0.83[EUR][1000 genomes]
rs10414823	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs10416824	0.89[CEU][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs10418100	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10419111	0.80[EUR][1000 genomes]
rs10419827	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10500284	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs12979253	0.89[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs1811564	0.83[EUR][1000 genomes]
rs1870092	0.89[CEU][hapmap];0.88[TSI][hapmap]
rs1870093	0.80[EUR][1000 genomes]
rs2008798	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs2199829	0.89[CEU][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs2199830	0.83[EUR][1000 genomes]
rs28821622	0.83[EUR][1000 genomes]
rs28824227	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28847113	0.81[EUR][1000 genomes]
rs34819714	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3795022	0.83[EUR][1000 genomes]
rs4480913	0.83[EUR][1000 genomes]
rs62117403	0.82[EUR][1000 genomes]
rs6508998	0.83[EUR][1000 genomes]
rs6508999	0.82[EUR][1000 genomes]
rs6509000	0.83[EUR][1000 genomes]
rs7251336	0.89[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7251783	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7251799	0.85[EUR][1000 genomes]
rs7251960	0.89[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7258053	0.90[EUR][1000 genomes]
rs734107	0.89[CEU][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs734109	0.83[EUR][1000 genomes]
rs8099934	0.83[EUR][1000 genomes]
rs8100182	0.83[EUR][1000 genomes]
rs8106505	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs8110199	0.83[EUR][1000 genomes]
rs8113283	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs8113538	0.83[EUR][1000 genomes]
rs8113641	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs8113720	0.83[EUR][1000 genomes]
rs8113741	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8113813	0.83[EUR][1000 genomes]
rs899662	0.85[CEU][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7251154	DMRTC2	cis	Whole Blood	GTEx
rs7251154	PPP5C	cis	parietal	SCAN
rs7251154	ZNF575	cis	parietal	SCAN
rs7251154	EHD2	cis	parietal	SCAN
rs7251154	RABAC1	Cis_1M	lymphoblastoid	RTeQTL
rs7251154	CEACAM1	cis	cerebellum	SCAN
rs7251154	EXOC3L2	cis	cerebellum	SCAN
rs7251154	ZNF404	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42298800-42307400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:42301600-42306600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:42303000-42307000	Enhancers	Esophagus	oesophagus
4	chr19:42303400-42306000	Weak transcription	GM12878-XiMat	blood
5	chr19:42304800-42316800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:42305000-42306600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr19:42305000-42307000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr19:42305000-42307200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:42305000-42309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:42305000-42310000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr19:42305200-42307000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:42305200-42307000	Enhancers	Fetal Thymus	thymus
13	chr19:42305200-42308800	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:42305400-42306000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
15	chr19:42305600-42306800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:42305600-42307000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:42305600-42308200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:42305800-42306200	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:42305800-42307000	Enhancers	Adipose Nuclei	Adipose
20	chr19:42305800-42308200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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